Abstract
The knowledge that cancer is a malignant form of uncontrolled growth has existed for over a century. Several biological, chemical, and physical agents have been implicated in cancer causation. However, the mechanisms responsible for this uninhibited proliferation, following the initial insult(s), are still object of intense investigation.
The first documented studies of cancer were performed over a century ago on domestic animals. At that time, the lack of both theoretical and technological knowledge impaired the formulations of conclusions about cancer, other than the visible presence of new growth, thus the term neoplasm (from the Greek neo = new and plasma = growth).
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References
Boveri T. Über mehrpolige Mitosen als Mittel zur Analyse des Zellkerns. Verhandlungen der Physikalisch-medicinischen Gesellschaft zu Würzburg. Würzburg: Stuber; 1902.
Sutton WS. The chromosomes in heredity. Biol Bull. 1902;4:231–51.
Boveri T. Zur Frage der Entstehung Maligner Tumoren. Yena: Gustav Fisher; 1914.
Nowell PC, Hungerford DA. A minute chromosome in human chronic granulocytic leukemia. Science. 1960;132:1497.
Meloni-Ehrig A. Cytogenetic analysis. In: Body fluid analysis for cellular composition; approved guideline (H56A). Wayne: Clinical and Laboratory Standards Institute; 2006.
Dewald G, Hicks G, Dines D, et al. Usefulness of culture methods to aid cytogenetic analyses for the diagnosis of malignant pleural effusions. Mayo Clin Proc. 1982;57:488.
Morgan SS, Poland-Johnston NK, Meloni A, Morgan R. Methodology and experience in culturing and testing the GCT cell line for bone marrow cytogenetic improvement. Karyogram. 1988;14:7–9.
Struski S, Gervais C, Helias C, et al. Stimulation of B-cell lymphoproliferations with CpG-oligonucleotide DSP30 plus IL-2 is more effective than with TPA to detect clonal abnormalities. Leukemia. 2009;23:617–9.
Dewald G, Allen J, Strutzenberg D, et al. A cytogenetic method for mailed-in bone marrow specimen for the study of hematologic disorders. Lab Med. 1982;13:225.
Nowell PC. Phytohemagglutinin: an initiator of mitosis in cultures of normal human leukocytes. Cancer Res. 1960;20:462–6.
Spurbeck J, Zinsmeister A, Meyer K, et al. Dynamics of chromosome spreading. Am J Med Genet. 1996;61:387.
Drets ME, Shaw MW. Specific banding patterns of human chromosomes. Exp Cell Res. 1971;68:2073–7.
Rowley J, Potter D. Chromosomal banding patterns in acute nonlymphocytic leukemia. Blood. 1976;47:705.
Shaffer LG, Slovak ML, Campbell LJ. ISCN 2009: an international system for human cytogenetic nomenclature. Basel: S. Karger; 2009.
Tirado CA, Meloni-Ehrig AM, Jahn JA, Edwards T, Scheerle J, Burks K, Repetti C, Christacos NC, Kelly JC, Greenberg J, Murphy C, Croft CD, Heritage D, Mowrey PN. Cryptic ins(4;11)(q21;q23q23) detected by fluorescence in situ hybridization: a variant of t(4;11)(q21;q23) in an infant with a precursor B-cell lymphoblastic leukemia. Report of a second case. Cancer Genet Cytogenet. 2007;174:166–9.
Kelly JC, Shahbazi N, Scheerle J, Jahn J, Suchen S, Christacos NC, Mowrey PN, Witt MH, Hostetter A, Meloni-Ehrig AM. Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia. Cancer Genet Cytogenet. 2009;192(1):36–9.
Cremer T, Landegent J, Bruckner A, et al. Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84. Hum Genet. 1986;74:346.
Tkachuk DC, Westbrook CA, Andreeff M, et al. Detection of BCR-ABL fusion in chronic myelogenous leukemia by in situ hybridization. Science. 1990;259:559.
Speicher MR, Ballard SG, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet. 1996;12:368.
Zhang FF, Murata-Collins JL, Gaytan P, et al. Twenty-four-color spectral karyotyping reveals chromosome aberrations in cytogenetically normal and acute myeloid leukemia. Genes Chromosomes Cancer. 2000;28:318.
Pinkel D, Alberson DG. Array comparative genomic hybridization and its application to cancer. Nat Genet. 2005;37(Suppl):S11.
Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258:818.
Wilkens L, Tchinda J, Burkhardt D, et al. Analysis of hematological diseases using conventional karyotyping, fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). Hum Pathol. 1998;29:833.
Gargallo P, Cacchione R, Chena C, et al. Chronic lymphocytic leukemia developing in a patient with chronic myeloid leukemia: evidence of distinct lineage-associated genomic events. Cancer Genet Cytogenet. 2005;161:74–7.
Robak T, Urbańska-Ryś H, Smolewski P, et al. Chronic myelomonocytic leukemia coexisting with B-cell chronic lymphocytic leukemia. Leuk Lymphoma. 2003;44(11):2001–8.
Kelly MJ, Meloni-Ehrig AM, Manley PE, Altura RA. Poor outcome in a pediatric patient with acute myeloid leukemia associated with a variant t(8;21) and trisomy 6. Cancer Genet Cytogenet. 2009;189(1):48–52.
Busque L, Gilliland DG. Clonal evolution in acute myeloid leukemia. Blood. 1993;82:337.
Shanafelt TD, Witzig TE, Fink SR, et al. Prospective evaluation of clonal evolution during long-term follow-up of patients with untreated early-stage chronic lymphocytic leukemia. J Clin Oncol. 2006;24:4634.
Hoglund M, Sehn L, Connors JM, et al. Identification of cytogenetic subgroups and karyotypic pathways of clonal evolution in follicular lymphomas. Genes Chromosomes Cancer. 2004;39:195.
Tijo JH, Levan A. The chromosome number in man. Hereditas. 1956;42:1–6.
Ford CE, Hamerton JL. The chromosomes of man. Nature. 1956;178:1020–3.
Ford CE, Jacobs PA. Human somatic chromosomes. Nature. 1958;181:1565–8.
Rowley JD. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet. 1973;16: 109–12.
Ford JH, Pittman SM. Duplication of 21 or 8/21 translocation in acute leukaemia. Lancet. 1974;2:1458.
Ford JH, Pittman SM, Gunz FW. Consistent chromosome abnormalities in acute leukaemia. Br Med J. 1974;4:227–8.
Mitelman F, Johansson B, Mertens F, editors. Mitelman database of chromosome aberrations in Cancer. Available at http://cgap.nci.nih.gov/Chromosomes/Mitelman (2008). Accessed Oct 2010.
Heim S, Mitelman F, editors. Cancer cytogenetics. 3rd ed. Hoboken: Wiley-Blackwell; 2009.
Mitelman F, Johannsson B, Mertens F. The impact of translocations and gene fusions on cancer causation. Nature. 2007;7:233.
Rowley JD. Chromosomal translocations: revisited yet again. Blood. 2008;112:2183–9.
Meloni A, Morgan R, Piatt J, Sandberg AA. Translocation (1;11)(q21;q23); a new subgroup within M4 ANLL. Cancer Genet Cytogenet. 1989;37:269–71.
Morgan R, Riske CB, Meloni A, Ries CA, Johnson CH, Lemons RS, Sandberg AA. t(16;21)(p11.2;q22): a recurrent primary arrangement in ANLL. Cancer Genet Cytogenet. 1991;53:83–90.
Rowley JD, Golumb H, Dougherty C. 15/17 translocation a consistent chromosomal change in acute promyelocytic leukemia. Lancet. 1977;1:549.
Chen Z, Morgan R, Notohamiprodjo M, Meloni-Ehrig A, Schuster RT, Bennett JS, Cohen JD, Stone JF, Sandberg AA. The Philadelphia chromosome as a secondary change in leukemia: three case reports and an overview of the literature. Cancer Genet Cytogenet. 1997;101:148–51.
Nucifora G, Rowley JD. AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia. Blood. 1995;86:1.
Welzler M, Dodge RK, Mrozek K, et al. Additional cytogenetic abnormalities in adults with Philadelphia chromosome positive acute lymphoblastic leukemia: a study of the Cancer and Leukemia Group B. Br J Haematol. 2004;124:275.
Peterson LF, Zhang D-E. The 8;21 in leukemogenesis. Oncogene. 2004;23:4255.
Perea G, Lasa A, Aventin A, et al. Prognostic value of minimal residual disease (MRD) in acute myeloid leukemia (AML) with favorable cytogenetics [t(8;21) and inv(16)]. Leukemia. 2006;20:87.
de The H, Chomienne C, Lanotte M, et al. The t(15;17) translocation of acute promyelocytic leukemia fuses the retinoic acid receptor α gene to a novel transcribed locus. Nature. 1990;347:558.
Ben-Neriah Y, Daley GQ, Mes-Masson A-M, et al. The chronic myelogenous leukemia-specific P210 protein is the product of the bcr/abl hybrid gene. Science. 1986;233:212.
Hiebert SW, Lutterbach B, Amann J. Role of co-repressors in transcriptional repression mediated by the t(8;21), t(16;21), t(12;21), and inv(16) fusion proteins. Curr Opin Hematol. 2001;8:197.
Rosenwald A, Wright G, Wiestner A, et al. The proliferation gene expression signature is a quantitative integrator of oncogenic events that predicts survival in mantle cell lymphoma. Cancer Cell. 2003;3:185.
Bende RJ, Smit LA, van Noesel CJM. Molecular pathways in follicular lymphoma. Leukemia. 2007;21:18.
Dalla-Favera R, Bregni M, Erikson J, et al. Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells. Proc Natl Acad Sci USA. 1982;79:7824.
Meloni-Ehrig AM, Alexander E, Nathan SV, Ahmed MS, Smith ED, Scheerle J, Kelly JC, Meck JM, Mowrey PM. Deletion 6p as the sole chromosome abnormality in a patient with therapy-related myelodysplastic syndrome. Case report and review of the literature. Cancer Genet Cytogenet. 2010;197:81–3.
Meck J, Otani-Rosa J, Neuberg R, Welsh J, Mowrey P, Meloni-Ehrig AM. A rare finding of deletion 5q in a pediatric patient with myelomonocytic leukemia. Cancer Genet Cytogenet. 2009;195(2): 192–4.
Sole F, Luno E, Sanzo C, et al. Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica. 2005; 90:1168.
Bernasconi P, Boni M, Cavigliano PM, et al. Clinical relevance of cytogenetics in myelodysplastic syndrome. Ann N Y Acad Sci. 2006;1089:395.
Olney HJ, Le Beau MM. Evaluation of recurring cytogenetic abnormalities in the treatment of myelodysplastic syndromes. Leuk Res. 2007;31:427.
Bacher U, Haferlach T, Kern W, et al. Conventional cytogenetics of myeloproliferative diseases other than CML contributes valid information. Ann Hematol. 2005;84:250.
Najfeld V. Conventional and molecular cytogenetics of Ph-negative chronic myeloproliferative disorders. In: Tefferi A, Silver R, editors. Myeloproliferative disorders: molecular pathogenesis and practice in the JAK2 mutations era. New York: Informa Healthcare; 2007. p. 51.
Kamath A, Tara H, Xiang B, Bajaj R, He W, Li P. Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization. Cancer Genet Cytogenet. 2008;183(2):117–20.
O’Malley F, Rayeroux K, Cole-Sinclair M, Tong M, Campbell LJ. MYC amplification in two further cases of acute myeloid leukemia with trisomy 4 and double minute chromosomes. Cancer Genet Cytogenet. 1999;109(2):123–5.
Michalová K, Cermák J, Brezinová J, Zemanová Z. Double minute chromosomes in a patient with myelodysplastic syndrome transforming into acute myeloid leukemia. Cancer Genet Cytogenet. 1999;109(1):76–8.
Ariyama Y, Fukuda Y, Okuno Y, Seto M, Date K, Abe T, Nakamura Y, Inazawa J. Amplification on double-minute chromosomes and partial-tandem duplication of the MLL gene in leukemic cells of a patient with acute myelogenous leukemia. Genes Chromosomes Cancer. 1998;23(3):267–72.
Herry A, Douet-Guilbert N, Guéganic N, Morel F, Le Bris MJ, Berthou C, De Braekeleer M. Del(5q) and MLL amplification in homogeneously staining region in acute myeloblastic leukemia: a recurrent cytogenetic association. Ann Hematol. 2006;85(4):244–9.
Vazquez I, Lahortiga I, Agirre X, Larrayoz MJ, Vizmanos JL, Ardanaz MT, Zeleznik-Le NJ, Calasanz MJ, Odero MD. Cryptic ins(2;11) with clonal evolution showing amplification of 11q23-q25 either on hsr(11) or on dmin, in a patient with AML-M2. Leukemia. 2004;18(12):2041–4.
Swerdlow SH, Campo E, Harris NL, et al. WHO classification of tumors of haematopoietic and lymphoid tissues. Lyon: IARC; 2008.
Raskind WH, Tirumali N, Jacobson R, et al. Evidence for a multistep pathogenesis of myelodysplastic anemia. Blood. 1984;63: 1318.
Tiu R, Gondek L, O’Keefe C, Macijewski JP. Clonality of the stem cell compartment during evolution of myelodysplastic syndromes and other bone marrow failure syndromes. Leukemia. 2007;1:10.
Heaney ML, Golde DW. Myelodysplasia. N Engl J Med. 1999;340:1649.
Asimakopolous FA, Holloway TL, Nacheva EP, et al. Detection of chromosome 20q deletions in bone marrow metaphases but not peripheral blood granulocytes in patients with myeloproliferative disorders and myelodysplastic syndromes. Blood. 1994;87:1561.
Nilsson L, Astrand-Grundstrom I, Arvidsson I, et al. Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: evidence for involvement at the hematopoietic stem cell level. Blood. 2000;96:2012.
Van den Berghe H, Michaux L. 5q-, twenty-five years later: a synopsis. Cancer Genet Cytogenet. 1997;94:1.
Lezon-Geyda K, Najfeld V, Johnson EM. Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia. Leukemia. 2001; 15:954.
Giagounidis AAN, Germing U, Haase S, et al. Clinical, morphological, cytogenetic and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia. 2004;18:113.
Rubin CM, Arthur DC, Woods WG, et al. Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy. Blood. 1991;78:2982.
Larson RA, Le Beau MM. Therapy-related myeloid leukaemia: a model for leukemogenesis in humans. Chem Biol Interact. 2005;30:187.
Smith SM, Le Beau MM, Huo D, et al. Clinical cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: The University of Chicago series. Blood. 2003;102:43.
Bloomfield CD, Archer KJ, Mrozek K, et al. 11q23 balanced chromosome aberrations in treatment-related myelodysplastic syndromes and acute leukemia: report from an international workshop. Genes Chromosomes Cancer. 2002;33:362.
Boultwood J, Lewis S, Wainscoat JS. The 5q-syndrome. Blood. 1994;84:3253.
Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079.
Haase D, Estey EH, Steidl C, et al. Multivariate evaluation of the prognostic and therapeutic relevance of cytogenetics in a merged European-American cohort of 3680 patients with MDS. Blood. 2007;110:247.
Giagounidis AAN, Germing U, Aul C. Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clin Cancer Res. 2006;12:5.
Nimer SD. Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q. J Clin Oncol. 2006;24:2576.
Pederson B. 5q-survival: importance of gender and deleted 5q bands and survival analysis based on 324 published cases. Leuk Lymphoma. 1998;31:325.
Soenen V, Preudhomme C, Roumier C, et al. 17p deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. Blood. 1998;91:1008.
Pozdnyakova O, Miron PM, Tang G, Walter O, Raza A, Woda B, Wang SA. Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities. Cancer. 2008;113:3331–40.
Le Beau MM, Espinoza III R, Davis EM, et al. Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood. 1996;88:1930.
Liang H, Fairman J, Claxton DF, et al. Molecular anatomy of chromosome 7q deletions in myeloid neoplasms: evidence for multiple critical loci. Proc Natl Acad Sci USA. 1998;95:3781.
Brezinová J, Zemanová Z, Ransdorfová S, Pavlistová L, Babická L, Housková L, et al. Structural aberrations of chromosome 7 revealed by a combination of molecular cytogenetic techniques in myeloid malignancies. Cancer Genet Cytogenet. 2007;173:10–6.
McKenna RW. Myelodysplasia and myeloproliferative disorders in children. Am J Clin Pathol. 2004;122:58–69.
Carroll WL, Morgan R, Glader BE. Childhood bone marrow monosomy 7 syndrome: a familial disorder? J Pediat. 1985;107: 578–80.
Hasle H, Alonzo TA, Auvrignon A, Behar C, Chang M, Creutzig U, et al. Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study. Blood. 2007;109:4641–7.
Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, et al. Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet. 2001;124:147–51.
Porta G, Maserati E, Mattaruchi E, et al. Monosomy 7 in myeloid malignancies, parental origin and monitoring by real-time quantitative PCR. Leukemia. 2007;8:1833.
Huret JL. +8 or trisomy 8. Atlas Genet Cytogenet Oncol Haematol. 2007. URL: http://AtlasGeneticsOncology.org/Anomalies/tri8ID1017.html. Accessed 27 July 2010.
Paulsson K, Johansson B. Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes. Pathol Biol. 2007;55:37–48.
Westwood NB, Gruszka-Westwood AM, Pearson CE, et al. The incidence of trisomy 8, trisomy 9 and D20S109 deletion in polycythemia vera: an analysis of blood granulocytes using interphase fluorescence in situ hybridization. Br J Haematol. 2000;110:839.
Beyer V, Mühlematter D, Parlier V, Cabrol C, Bougeon-Mamin S, Solenthaler M, et al. Polysomy 8 defines a clinico-cytogenetic entity representing a subset of myeloid hematologic malignancies associated with a poor prognosis: report on a cohort of 12 patients and review of 105 published cases. Cancer Genet Cytogenet. 2005;160:97–119.
Lahortiga I, Vazquez I, Agirre X, et al. Molecular heterogeneity in AML/MDS patients with 3q21q26 rearrangements. Genes Chromosomes Cancer. 2004;40:179.
Poppe B, Dastugue N, Speleman F. 3q rearrangements in myeloid malignancies. Atlas Genet Cytogenet Oncol Haematol. 2003. URL: http://AtlasGeneticsOncology.org/Anomalies/3qrearrmyeloID1125.html. Accessed 15 Sept 2010.
Huret JL. 3q21q26 rearrangements in treatment related leukemia. Atlas Genet Cytogenet Oncol Haematol. 2005. URL: http://AtlasGeneticsOncology.org/Anomalies/3q21q26TreatRelLeukID1236.html. Accessed 15 Sept 2010.
Fontasch C, Gudar H, Lengfelder E, et al. Correlation of cytogenetic findings with clinical features in 18 patients with inv(3)(21q26) to t(3;3)(q21;q26). Leukemia. 1994;8:1318.
Morishita K, Parganas E, William CL, et al. Activation of EVI1 gene expression in human acute myelogenous leukemia by translocation spanning 300–400 kilobases on chromosome band 3q26. Proc Natl Acad Sci USA. 1994;89:3937.
Poppe B, Dastugue N, Vadesopelle J, et al. EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26. Genes Chromosomes Cancer. 2006;45:349.
Martinelli G, Ottaviani F, Buonamici S, et al. Associations of 3q21q26 syndrome with different RPNI/EVI1 fusion transcripts. Haematologica. 2003;88:1221.
Meloni-Ehrig AM. dic(17;20)(p11.2;q11.2). Atlas Genet Cytogenet Oncol Haematol. 2008. URL: http://AtlasGeneticsOncology.org/Anomalies/dic1720p11q11ID1485.html. Accessed 15 Sept 2010.
Merlat A, Lai JL, Sterkers Y, Demory JL, Bauters F, Preudhomme C, Fenaux P. Therapy-related myelodysplastic syndrome and acute myeloid leukemia with 17p deletion. A report on 25 cases. Leukemia. 1999;13:250–7.
Fenaux P, Collyn d’Hooghe M, Jonveaux P, Lai JL, Bauters F, Loucheux MH, Kerckaert JP. Rearrangement and expression of the p53 gene in myelodysplastic syndrome and acute myeloid leukemia. Nouv Rev Fr Hematol. 1990;32:341–4.
Stone JF, Sandberg AA. Sex chromosome aneuploidy and aging. Mutat Res. 1995;338:107–13.
Huh J, Moon H, Chung WS. Incidence and clinical significance of sex chromosome losses in bone marrow of patients with hematologic diseases. Korean J Lab Med. 2007;27:56–61.
Wiktor A, Rybicki BA, Piao ZS, Shurafa M, Barthel B, Maeda K, Van Dyke DL. Clinical significance of Y chromosome loss in hematologic disease. Genes Chromosomes Cancer. 2000;27:11–6.
Abruzzese E, Rao PN, Slatkoff M, Cruz J, Powell BL, Jackle B, Pettenati MJ. Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases. Cancer Genet Cytogenet. 1997;93:140–6.
Smith A, Watson N, Sharma P. Frequency of trisomy 15 and loss of the Y chromosome in adult leukemia. Cancer Genet Cytogenet. 1999;114:108–11.
Sinclair EJ, Potter AM, Watmore AE, Fitchett M, Ross F. Trisomy 15 associated with loss of the Y chromosome in bone marrow: a possible new aging effect. Cancer Genet Cytogenet. 1998;105:20–3.
Hanson CA, Steensma DP, Hodnefield JM, Nguyen PL, Hoyer JD, Viswanatha DS, Zou Y, Knudson RA, Van Dyke DL, Ketterling RP. Isolated trisomy 15: a clonal chromosome abnormality in bone marrow with doubtful hematologic significance. Am J Clin Pathol. 2008;129:478–85.
Morel F, Le Bris MJ, Herry A, Morice P, De Braekeleer M. Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature. Leuk Lymphoma. 2003;44:549–51.
Xu W, Li JY, Liu Q, Zhu Y, Pan JL, Qiu HR, Xue YQ. Multiplex fluorescence in situ hybridization in identifying chromosome involvement of complex karyotypes in de novo myelodysplastic syndromes and acute myeloid leukemia. Int J Lab Hematol. 2010;32:86–95.
Cherry AM, Brockman SR, Paternoster SF, Hicks GA, Neuberg D, Higgins RR, Bennett JM, Greenberg PL, Miller K, Tallman MS, Rowe J, Dewald GW. Comparison of interphase FISH and metaphase cytogenetics to study myelodysplastic syndrome: an Eastern Cooperative Oncology Group (ECOG) study. Leuk Res. 2003;27:1085–90.
Costa D, Valera S, Carrió A, Arias A, Muñoz C, Rozman M, Belkaid M, Coutinho R, Nomdedeu B, Campo E. Do we need to do fluorescence in situ hybridization analysis in myelodysplastic syndromes as often as we do? Leuk Res. 2010;34:1437–41.
Raskind WH, Steinmann L, Najfeld V. Clonal development of myeloproliferative disorders: clues to hematopoietic differentiation and multistep pathogenesis of cancer. Leukemia. 1998;12:108.
Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006;355:2452.
Valent P. Pathogenesis, classification, and therapy of eosinophilia and eosinophil disorders. Blood Rev. 2009;23:157–65.
De Keersmaecker K, Cools J. Chronic myeloproliferative disorders: a tyrosine kinase tale. Leukemia. 2006;20:200.
Bench AJ, Nacheva EP, Champion KM, Green AR. Molecular genetics and cytogenetics of myeloproliferative disorders. Baillieres Clin Haematol. 1998;11:819–48.
Djordjević V, Dencić-Fekete M, Jovanović J, Drakulić D, Stevanović M, Janković G, Gotić M. Pattern of trisomy 1q in hematological malignancies: a single institution experience. Cancer Genet Cytogenet. 2008;186(1):12–8.
Fialkow PJ, Jacobson RJ, Papayannopoulou T. Chronic myelocytic leukemia. Clonal origin in a stem cell common to the granulocyte, erythrocyte, platelet and monocyte/macrophage. Am J Med. 1977;63:125.
Fialkow PJ, Martin PJ, Najfeld V, et al. Evidence for multistep pathogenesis of chronic myelogenous leukemia. Blood. 1981;58:158.
Rowley JD. A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973;243:290.
Goldman JM. Chronic myeloid leukemia: a historical perspective. Semin Hematol. 2010;47:302–11.
Grofen J, Stephenson JR, Heisterkamp N, et al. Philadelphia chromosome breakpoints are clustered within a limited region, bcr, or chromosome. Cell. 1984;36:93.
Heisterkamp N, Stam K, Groffen J, et al. Structural organization of the Ph′ gene and its role in the Ph translocation. Nature. 1985;315:758.
Score J, Calasanz MJ, Ottman O, Pane F, Yeh RF, Sobrinho-Simões MA, Kreil S, Ward D, Hidalgo-Curtis C, Melo JV, Wiemels J, Nadel B, Cross NC, Grand FH. Analysis of genomic breakpoints in p190 and p210 BCR-ABL indicate distinct mechanisms of formation. Leukemia. 2010;24:1742–50.
Melo JV. BCR-ABL gene variants. Baillieres Clin Haematol. 1997;10:203–22.
Perrotti D, Jamieson C, Goldman J, Skorski T. Chronic myeloid leukemia: mechanisms of blastic transformation. J Clin Invest. 2010;120:2254–64.
Hagemeijer A, Buijs A, Smith E, et al. Translocation of BCR to chromosome 9: a new cytogenetic variant detected by FISH in two Ph-negative, BCR-ABL-positive patients with chronic myelogenous leukemia. Genes Chromosomes Cancer. 1993;8:237.
Nacheva E, Holloway VT, Brown K, et al. Philadelphia negative chronic myelogenous leukemia: detection by FISH of BCR-ABL fusion gene localized either to chromosome 9 or chromosome 22. Br J Haematol. 1993;87:409.
Brunel V, Sainity D, Costello R, et al. Translocation of BCR to chromosome 9 in a Philadelphia negative chronic myeloid leukemia. Cancer Genet Cytogenet. 1995;85:82.
Karbasian Esfahani M, Morris EL, Dutcher JP, Wiernik PH. Blastic phase of chronic myelogenous leukemia. Curr Treat Options Oncol. 2006;7:189–99.
Wang Y, Hopwood VL, Hu P, Lennon A, Osterberger J, Glassman A. Determination of secondary chromosomal aberrations of chronic myelocytic leukemia. Cancer Genet Cytogenet. 2004;153:53–6.
Adamson JW, Fialkow PJ, Murphy S, et al. Polycythemia vera: stem cell and probable clonal origin of the disease. N Engl J Med. 1976;295:913.
James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythemia Vera. Nature. 2005;434:1144.
Rumi E, Elena C, Passamonti F. Mutational status of myeloproliferative neoplasms. Crit Rev Eukaryot Gene Expr. 2010;20:61–76.
Guglielmelli P, Vannucchi AM. Recent advances in diagnosis and treatment of chronic myeloproliferative neoplasms. F1000 Med Rep. 2010;2.pii:16.
Andrieux J, Demory JL. Karyotype and molecular cytogenetics studies in polycythemia vera. Curr Hematol Rep. 2005;4:224.
Chen Z, Notohamiprodjom M, Guan X-Y, et al. Gain of 9p in the pathogenesis of polycythemia vera. Genes Chromosomes Cancer. 1998;22:321.
Kralovics R, Guan Y, Prchlar JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30:229.
Bacher U, Haferlach T, Schoch C. Gain of 9p due to an unbalanced rearrangement der(9;18): a recurrent clonal abnormality in chronic myeloproliferative disorders. Cancer Genet Cytogenet. 2005;160:179–83.
Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352:1779–90.
Swolin B, Weinfeld A, Westin J. Trisomy 1q in polycythemia vera and its relation to disease transition. Am J Hematol. 1986;22:155–67.
Passamonti F, Rumi E, Pietra D, Elena C, Boveri E, Arcaini L, Roncoroni E, Astori C, Merli M, Boggi S, Pascutto C, Lazzarino M, Cazzola M. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24:1574–9.
Passamonti F, Rumi E, Arcaini L, Castagnola C, Lunghi M, Bernasconi P, Giovanni Della Porta M, Columbo N, Pascutto C, Cazzola M, Lazzarino M. Leukemic transformation of polycythemia vera: a single center study of 23 patients. Cancer. 2005;104:1032–6.
Mavrogianni D, Viniou N, Michali E, Terpos E, Meletis J, Vaiopoulos G, Madzourani M, Pangalis G, Yataganas X, Loukopoulos D. Leukemogenic risk of hydroxyurea therapy as a single agent in polycythemia vera and essential thrombocythemia: N- and K-ras mutations and microsatellite instability in chromosomes 5 and 7 in 69 patients. Int J Hematol. 2002;75:394–400.
Jacobson RJ, Salo A, Fialkow PJ. Agnogenic myeloid metaplasia. A clonal proliferation of hematopoietic stem cells with secondary myelofibrosis. Blood. 1978;51:189.
Wadleigh M, Tefferi A. Classification and diagnosis of myeloproliferative neoplasms according to the 2008 World Health Organization criteria. Int J Hematol. 2010;91:174–9.
Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813–7.
Tefferi A, Dingli D, Li C-Y, Dewald GW. Prognostic diversity among cytogenetics abnormalities in myelofibrosis with myeloid metaplasia. Cancer. 2005;104:1656.
Strasser-Weippl K, Steurer M, Kees M, et al. Prognostic relevance of cytogenetics determined by fluorescent in situ hybridization in patients having myelofibrosis with myeloid metaplasia. Cancer. 2006;107:2801.
Millecker L, Lennon PA, Verstovsek S, Barkoh B, Galbincea J, Hu P, Chen SS, Jones D. Distinct patterns of cytogenetic and clinical progression in chronic myeloproliferative neoplasms with or without JAK2 or MPL mutations. Cancer Genet Cytogenet. 2010;197:1–7.
Sanchez S, Ewton A. Essential thrombocythemia: a review of diagnostic and pathologic features. Arch Pathol Lab Med. 2006;130:1144–50.
Levine RL, Heaney M. New advances in the pathogenesis and therapy of essential thrombocythemia. Hematol Am Soc Hematol Educ Program. 2008:76–82.
Sever M, Kantarjian H, Pierce S, Jain N, Estrov Z, Cortes J, Verstovsek S. Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation. Int J Hematol. 2009;90:522–5.
Oliver JW, Deol I, Morgan DL, Tonk VS. Chronic eosinophilic leukemia and hypereosinophilic syndromes. Proposal for classification, literature review, and report of a case with a unique chromosomal abnormality. Cancer Genet Cytogenet. 1998;107:111–7.
Loules G, Kalala F, Giannakoulas N, Papadakis E, Matsouka P, Speletas M. FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia. BMC Blood Disord. 2009;9:1.
Alvarez-Twose I, González de Olano D, Sánchez-Muñoz L, Matito A, Esteban-López MI, Vega A, et al. Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms. J Allergy Clin Immunol. 2010;125:1269–78.
Brockow K, Metcalfe DD. Mastocytosis. Chem Immunol Allergy. 2010;95:110–24.
Yoshida C, Takeuchi M, Tsuchiyama J, Sadahira Y. Successful treatment of KIT D816V-positive, imatinib-resistant systemic mastocytosis with interferon-alpha. Intern Med. 2009;48:1973–8.
Yamada Y, Cancelas JA. FIP1L1/PDGFR alpha-associated systemic mastocytosis. Int Arch Allergy Immunol. 2010;152:101–5.
Fritsche-Polanz R, Fritz M, Huber A, Sotlar K, Sperr WR, Mannhalter C, Födinger M, Valent P. High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. Mol Oncol. 2010;4: 335–46.
Elliott MA. Chronic neutrophilic leukemia and chronic myelomonocytic leukemia: WHO defined. Best Pract Res Clin Haematol. 2006;19:571–93.
Orazi A, Cattoretti G, Sozzi G. A case of chronic neutrophilic leukemia with trisomy 8. Acta Haematol. 1989;81:148–51.
Takamatsu Y, Kondo S, Inoue M, Tamura K. Chronic neutrophilic leukemia with dysplastic features mimicking myelodysplastic syndromes. Int J Hematol. 1996;63:65–9.
Haskovec C, Ponzetto C, Polák J, Maritano D, Zemanová Z, Serra A, Michalová K, Klamová H, Cermák J, Saglio G. P230 BCR/ABL protein may be associated with an acute leukaemia phenotype. Br J Haematol. 1998;103:1104–8.
Tefferi A. Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. J Cell Mol Med. 2009;13:215–37.
Mozziconacci MJ, Carbuccia N, Prebet T, Charbonnier A, Murati A, Vey N, Chaffanet M, Birnbaum D. Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature. Leuk Res. 2008;32:1304–8.
Han X, Medeiros LJ, Abruzzo LV, Jones D, Lin P. Chronic myeloproliferative diseases with the t(5;12)(q33;p13): clonal evolution is associated with blast crisis. Am J Clin Pathol. 2006;125(1): 49–56.
Shin J, Kim M, Kim DB, Yeom JO, Lee HJ, Cho SG. Sustained response to low-dose imatinib mesylate in a patient with chronic myelomonocytic leukemia with t(5;12)(q33;p13). Acta Haematol. 2008;119:57–9.
Fink SR, Belongie KJ, Paternoster SF, Smoley SA, Pardanani AD, Tefferi A, Van Dyke DL, Ketterling RP. Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations. Leuk Res. 2009;33:843–6.
Steer EJ, Cross NC. Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta. Acta Haematol. 2002;107:113–22.
Nand R, Bryke C, Kroft SH, Divgi A, Bredeson C, Atallah E. Myeloproliferative disorder with eosinophilia and ETV6-ABL gene rearrangement: efficacy of second-generation tyrosine kinase inhibitors. Leuk Res. 2009;33:1144–6.
Griesinger F, Hennig H, Hillmer F, et al. A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia. Genes Chromosomes Cancer. 2005;44:329.
Reiter A, Walz C, Watmore A, et al. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCMI to JAK2. Cancer Res. 2005;65:2662.
Hall J, Foucar K. Diagnosing myelodysplastic/myeloproliferative neoplasms: laboratory testing strategies to exclude other disorders. Int J Lab Hematol. 2010;32:559–71.
Reiter A, Invernizzi R, Cross NC, Cazzola M. Molecular basis of myelodysplastic/myeloproliferative neoplasms. Haematologica. 2009;94:1634–8.
Bowen DT. Chronic myelomonocytic leukemia: lost in classification? Hematol Oncol. 2005;23:26–33.
Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell. 1994;77:307.
Nishida H, Ueno H, Park JW, Yano T. Isochromosome i(17q) as a sole cytogenetic abnormality in a case of leukemic transformation from myelodysplastic syndrome (MDS)/myeloproliferative diseases (MPD). Leuk Res. 2008;32:1325–7.
Pinheiro RF, Chauffaille MdeL, Silva MR. Isochromosome 17q in MDS: a marker of a distinct entity. Cancer Genet Cytogenet. 2006;166:189–90.
Groupe Français de Cytogénétique Hématologique. Cytogenetics of chronic myelomonocytic leukemia. Cancer Genet Cytogenet. 1986;21:11–30.
Tefferi A, Skoda R, Vardiman JW. Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. Nat Rev Clin Oncol. 2009;6:627–37.
Elder PT, McMullin MF, Humphreys MW, Hamilton J, McGrattan P. The finding of a reciprocal whole-arm translocation t(X;12)(p10;p10) in association with atypical chronic myeloid leukaemia. Med Oncol. 2010;27:760–2.
Kapaun P, Kabisch H, Held KR, Walter TA, Hegewisch S, Zander AR. Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome. Ann Hematol. 1993;66: 57–8.
Fend F, Horn T, Koch I, Vela T, Orazi A. Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm. Leuk Res. 2008;32:1931–5.
Niemeyer CM, Locatelli F. Chronic myeloproliferative disorders. In: Pui C-H, editor. Childhood leukemias. 2nd ed. New York: Cambridge University Press; 2006. p. 579.
Hasle H, Arico M, Basso G, Biondi A, Cantu Rajnoldi A, Creutzig U, et al. European Working Group on MDS in Childhood (EWOG-MDS). Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. Leukemia. 1999;13: 376–85.
Betz BL, Hess JL. Acute myeloid leukemia diagnosis in the 21st century. Arch Pathol Lab Med. 2010;134:1427–33.
Rubnitz JE, Gibson B, Smith FO. Acute myeloid leukemia. Hematol Oncol Clin North Am. 2010;24:35–63.
Eden T. Aetiology of childhood leukaemia. Cancer Treat Rev. 2010;36:286–97.
Grimwade D, Walker H, Oliver F, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1612 patients entered into the MRC AML 10 trial. Blood. 1998;92:2322.
Marcucci G, Mrozek K, Ryppert AS, et al. Abnormal cytogenetics at date of morphologic complete remission predicts short overall and disease-free survival, and higher relapse rate in adult acute myeloid leukemia: results from cancer and leukemia group B study 8461. J Clin Oncol. 2004;15:2410.
Bloomfield CD, Mrozek K, Caliguri MA. Cancer and Leukemia Group B correlative science committee: major accomplishments and future directions. Clin Cancer Res. 2006;12:3564.
Ishikawa Y, Kiyoi H, Tsujimura A, Miyawaki S, Miyazaki Y, Kuriyama K, Tomonaga M, Naoe T. Comprehensive analysis of cooperative gene mutations between class I and class II in de novo acute myeloid leukemia. Eur J Haematol. 2009;83:90–8.
Paschka P. Core binding factor acute myeloid leukemia. Semin Oncol. 2008;35:410–7.
Klaus M, Haferlach T, Schnittger S, Kern W, Hiddemann W, Schoch C. Cytogenetic profile in de novo acute myeloid leukemia with FAB subtypes M0, M1, and M2: a study based on 652 cases analyzed with morphology, cytogenetics, and fluorescence in situ hybridization. Cancer Genet Cytogenet. 2004;155:47–56.
Huret JL. t(8;21)(q22;q22). Atlas Genet Cytogenet Oncol Haematol. 1997. URL: http://AtlasGeneticsOncology.org/Anomalies/t0821.html. Accessed 2 Nov 2010.
Huret JL. t(8;21)(q22;q22) in treatment related leukemia. Atlas Genet Cytogenet Oncol Haematol. 2003. URL: http://AtlasGeneticsOncology.org/Anomalies/t0821q22q22TreatRelID1293.html. Accessed 2 Nov 2010.
Bae SY, Kim JS, Ryeu BJ, Lee KN, Lee CK, Kim YK, et al. Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases. Cancer Genet Cytogenet. 2010;199:31–7.
Al Bahar S, Adriana Z, Pandita R. A novel variant translocation t(6;8;21)(p22;q22;q22) leading to AML/ETO fusion in acute myeloid leukemia. Gulf J Oncolog. 2009;5:56–9.
Tirado CA, Chena W, Valdez FJ, Henderson S, Smart RL, Doolittle J, et al. A cryptic t(1;21;8)(p36;q22;q22) in a case of acute myeloid leukemia with maturation. J Assoc Genet Technol. 2009;35:88–92.
Kawakami K, Nishii K, Hyou R, Watanabe Y, Nakao M, Mitani H, et al. A case of acute myeloblastic leukemia with a novel variant of t(8;21)(q22;q22). Int J Hematol. 2008;87:78–82.
Ahmad F, Kokate P, Chheda P, Dalvi R, Das BR, Mandava S. Molecular cytogenetic findings in a three-way novel variant of t(1;8;21)(p35;q22;q22): a unique relocation of the AML1/ETO fusion gene 1p35 in AML-M2. Cancer Genet Cytogenet. 2008;180:153–7.
Udayakumar AM, Alkindi S, Pathare AV, Raeburn JA. Complex t(8;13;21)(q22;q14;q22)–a novel variant of t(8;21) in a patient with acute myeloid leukemia (AML-M2). Arch Med Res. 2008;39:252–6.
Choi J, Song J, Kim SJ, Choi JR, Kim SJ, Min YH, et al. Prognostic significance of trisomy 6 in an adult acute myeloid leukemia with t(8;21). Cancer Genet Cytogenet. 2010;202:141–3.
Lück SC, Russ AC, Du J, Gaidzik V, Schlenk RF, Pollack JR, et al. KIT mutations confer a distinct gene expression signature in core binding factor leukaemia. Br J Haematol. 2010;148:925–37.
Monma F, Nishii K, Shiga J, et al. Detection of CBFB/MYH fusion gene in de novo acute myeloid leukemia: a single institutional study of 224 Japanese AML patients. Leuk Res. 2007;31:471.
Shigesada K, van de Sluis B, Liu PP. Mechanism of leukemogenesis by the inv(16) chimeric gene CBFB/PEBP2B-MHY11. Oncogene. 2004;23:4297–307.
Hernández JM, González MB, Granada I, Gutiérrez N, Chillón C, Ramos F, et al. Detection of inv(16) and t(16;16) by fluorescence in situ hybridization in acute myeloid leukemia M4Eo. Haematologica. 2000;85:481–5.
Andersen MK, Larson RA, Mauritzson N, Schnittger S, Jhanwar SC, Pedersen-Bjergaard J. Balanced chromosome abnormalities inv(16) and t(15;17) in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop. Genes Chromosomes Cancer. 2002;33:395–400.
Appelbaum FR, Kopecky KJ, Tallman MS, Slovak ML, Gundacker HM, Kim HT, et al. The clinical spectrum of adult acute myeloid leukaemia associated with core binding factor translocations. Br J Haematol. 2006;135:165–73.
Lo-Coco F, Ammatuna E. The biology of acute promyelocytic leukemia and its impact on diagnosis and treatment. Hematology Am Soc Hematol Educ Program. 2006:156–61.
Grignani F, Fagioli M, Alcalay M, et al. Acute promyelocytic leukemia: from genetics to treatment. Blood. 1994;83:10.
Tirado CA, Jahn JA, Scheerle J, Eid M, Meister RJ, Christie RJ. Variant acute promyelocytic leukemia translocation (15;17) originating from two subsequent balanced translocations involving the same chromosomes 15 and 17 while preserving the PML/RARA fusion. Cancer Genet Cytogenet. 2005;161:70–3.
Kato T, Hangaishi A, Ichikawa M, Motokura T, Takahashi T, Kurokawa M. A new three-way variant t(15;22;17)(q22;q11.2;q21) in acute promyelocytic leukemia. Int J Hematol. 2009;89:204–8.
Jezísková I, Rázga F, Gazdová J, Doubek M, Jurcek T, Korístek Z, Mayer J, Dvoráková D. A case of a novel PML/RARA short fusion transcript with truncated transcription variant 2 of the RARA gene. Mol Diagn Ther. 2010;14:113–7.
Sirulnik A, Melnick A, Zelent A, Licht JD. Molecular pathogenesis of acute promyelocytic leukaemia and APL variants. Best Pract Res Clin Haematol. 2003;16:387–408.
Yin CC, Glassman AB, Lin P, Valbuena JR, Jones D, Luthra R, Medeiros LJ. Morphologic, cytogenetic, and molecular abnormalities in therapy-related acute promyelocytic leukemia. Am J Clin Pathol. 2005;123:840–8.
De Lourdes Chauffaille M, Borri D, Proto-Siqueira R, Moreira ES, Alberto FL. Acute promyelocytic leukemia with t(15;17): frequency of additional clonal chromosome abnormalities and FLT3 mutations. Leuk Lymphoma. 2008;49:2387–9.
DiMartino JF, Cleary ML. MLL rearrangements in hematological malignancies: lesions from clinical and biological studies. Br J Haematol. 1999;106:614.
Rubnitz JE, Raimondi SC, Tong X, Srivastava DK, Razzouk BI, Shurtleff SA, Downing JR, Pui CH, Ribeiro RC, Behm FG. Favorable impact of the t(9;11) in childhood acute myeloid leukemia. J Clin Oncol. 2002;1(20):2302–9.
Krauter J, Wagner K, Schäfer I, Marschalek R, Meyer C, Heil G. Prognostic factors in adult patients up to 60 years old with acute myeloid leukemia and translocations of chromosome band 11q23: individual patient data-based meta-analysis of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol. 2009;27:3000–6.
Swansbury GJ, Slater R, Bain BJ, Moorman AV, Secker-Walker LM. Hematological malignancies with t(9;11)(p21-22;q23). a laboratory and clinical study of 125 cases. European 11q23 workshop participants. Leukemia. 1998;12:792–800.
Biggerstaff JS, Liu W, Slovak ML, Bobadilla D, Bryant E, Glotzbach C, Shaffer LG. A dual-color FISH assay distinguishes between ELL and MLLT1 (ENL) gene rearrangements in t(11;19)-positive acute leukemia. Leukemia. 2006;20:2046–50.
Martineau M, Berger R, Lillington DM, Moorman AV, Secker-Walker LM. The t(6;11)(q27;q23) translocation in acute leukemia: a laboratory and clinical study of 30 cases. EU concerted action 11q23 workshop participants. Leukemia. 1998;12:788–91.
Stasevich I, Utskevich R, Kustanovich A, Litvinko N, Savitskaya T, Chernyavskaya S, Saharova O, Aleinikova O. Translocation (10;11)(p12;q23) in childhood acute myeloid leukemia: incidence and complex mechanism. Cancer Genet Cytogenet. 2006;169:114–20.
Oancea C, Rüster B, Henschler R, Puccetti E, Ruthardt M. The t(6;9) associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation. Leukemia. 2010;24:1910–9.
Chi Y, Lindgren V, Quigley S, Gaitonde S. Acute myelogenous leukemia with t(6;9)(p23;q34) and marrow basophilia: an overview. Arch Pathol Lab Med. 2008;132:1835–7.
Igarashi T, Shimizu S, Morishita K, Ohtsu T, Itoh K, Minami H, Fujii H, Sasaki Y, Mukai K. Acute myelogenous leukemia with monosomy 7, inv(3)(q21q26), involving activated EVI 1 gene occurring after a complete remission of lymphoblastic lymphoma: a case report. Jpn J Clin Oncol. 1998;28:688–95.
Dastugue N, Lafage-Pochitaloff M, Pages MP, et al. Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Francais de Cytogenetique Hematologique (GFCH). Blood. 2002;15:618.
Oki Y, Kantarjian HM, Zhou X, et al. Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center. Blood. 2006;107:880.
Massey GV, Zipursky A, Chang MN, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children’s Oncology Group (COG) study POG-9481. Blood. 2006;107:4606.
Roy A, Roberts I, Norton A, Vyas P. Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. Br J Haematol. 2009;147:3–12.
Bourquin JP, Subramanian A, Langebrake C, et al. Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci USA. 2006;103:3339.
Bullinger L, Dohner K, Bair E, et al. Use of gene-expressing profiling to identify prognostic subclasses in adult acute myeloid leukemia. N Engl J Med. 2004;350:1605.
Radmacher C, Bagrintseva K, Vempati S, et al. Independent conformation of a prognostic gene-expression signature in adult acute myeloid leukemia with a normal karyotype: a Cancer and Leukemia Group B study. Blood. 2006;108:1677.
Baldus CD, Mrozek K, Marcucci G, Blommfield CD. Clinical outcome of de novo acute myeloid leukaemia patients with normal cytogenetics is affected by molecular genetic alterations: a concise review. Br J Haematol. 2007;137:387.
Miesner M, Haferlach C, Bacher U, Weiss T, Macijewski K, Kohlmann A, et al. Multilineage dysplasia (MLD) in acute myeloid leukemia (AML) correlates with MDS-related cytogenetic abnormalities and a prior history of MDS or MDS/MPN but has no independent prognostic relevance: a comparison of 408 cases classified as “AML not otherwise specified” (AML-NOS) or “AML with myelodysplasia-related changes” (AML-MRC). Blood. 2010;116:2742–51.
Seok JH, Park J, Kim SK, Choi JE, Kim CC. Granulocytic sarcoma of the spine: MRI and clinical review. AJR Am J Roentgenol. 2010;194:485–9.
Zhang XH, Zhang R, Li Y. Granulocytic sarcoma of abdomen in acute myeloid leukemia patient with inv(16) and t(6;17) abnormal chromosome: case report and review of literature. Leuk Res. 2010;34:958–61.
Lee SG, Park TS, Cheong JW, Yang WI, Song J, et al. Preceding orbital granulocytic sarcoma in an adult patient with acute myelogenous leukemia with t(8;21): a case study and review of the literature. Cancer Genet Cytogenet. 2008;185:51–4. Erratum in: Cancer Genet Cytogenet 2008;187:59.
Douet-Guilbert N, Morel F, Le Bris MJ, Sassolas B, Giroux JD, De Braekeleer M. Rearrangement of MLL in a patient with congenital acute monoblastic leukemia and granulocytic sarcoma associated with a t(1;11)(p36;q23) translocation. Leuk Lymphoma. 2005;46:143–6.
Jegalian AG, Facchetti F, Jaffe ES. Plasmacytoid dendritic cells: physiologic roles and pathologic states. Adv Anat Pathol. 2009;16:392–404.
Liang X, Graham DK. Natural killer cell neoplasms. Cancer. 2008;112:1425–36.
Rubnitz JE, Onciu M, Pounds S, Shurtleff S, Cao X, Raimondi SC, Behm FG, Campana D, Razzouk BI, Ribeiro RC, Downing JR, Pui CH. Acute mixed lineage leukemia in children: the experience of St Jude Children’s Research Hospital. Blood. 2009;113:5083–9.
Naghashpour M, Lancet J, Moscinski L, Zhang L. Mixed phenotype acute leukemia with t(11;19)(q23;p13.3)/MLL-MLLT1(ENL), B/T-lymphoid type: a first case report. Am J Hematol. 2010;85:451–4.
Marcus R, Sweetenham JW, Williams ME, editors. Lymphoma: pathology, diagnosis and treatment. Cambridge: Cambridge University Press; 2007.
Pui C-H, editor. Childhood leukemias. 2nd ed. New York: Cambridge University Press; 2006.
Faderl S, O’Brien S, Pui CH, Stock W, Wetzler M, Hoelzer D, Kantarjian HM. Adult acute lymphoblastic leukemia: concepts and strategies. Cancer. 2010;116:1165–76.
Szczepański T, Harrison CJ, van Dongen JJ. Review. Genetic aberrations in paediatric acute leukaemias and implications for management of patients. Lancet Oncol. 2010;11:880–9.
Raimondi SC. Cytogenetics of acute leukemias. In: Pui C-H, editor. Childhood leukemias. 2nd ed. New York: Cambridge University Press; 2006. p. 235–71.
O’Leary M, Krailo M, Anderson JR, Reaman GH, Children’s Oncology Group. Progress in childhood cancer: 50 years of research collaboration, a report from the Children’s Oncology Group. Semin Oncol. 2008;35:484–93.
Ravandi F, Kebriaei P. Philadelphia chromosome-positive acute lymphoblastic leukemia. Hematol Oncol Clin North Am. 2009;23:1043–63.
van Rhee F, Hochhaus A, Lin F, Melo JV, Goldman JM, Cross NC. p190 BCR-ABL mRNA is expressed at low levels in p210-positive chronic myeloid and acute lymphoblastic leukemias. Blood. 1996;87:5213–7.
Lichty BD, Keating A, Callum J, Yee K, Croxford R, Corpus G, Nwachukwu B, Kim P, Guo J, Kamel-Reid S. Expression of p210 and p190 BCR-ABL due to alternative splicing in chronic myelogenous leukaemia. Br J Haematol. 1998;103:711–5.
Edelhäuser M, Raber W, Mitterbauer G, Mannhalter C, Lechner K, Fonatsch C. Variant intra Philadelphia translocation with rearrangement of BCR-ABL and ABL-BCR within the same chromosome in a patient with cALL. Cancer Genet Cytogenet. 2000;122:83–6.
Hirota M, Hidaka E, Ueno I, Ishikawa M, Asano N, Yamauchi K, Ishida F, Tozuka M, Katsuyama T. Novel BCR-ABL transcript containing an intronic sequence insert in a patient with Philadelphia-positive acute lymphoblastic leukaemia. Br J Haematol. 2000;110:867–70.
Zaccaria A, Testoni N, Valenti AM, Luatti S, Tonelli M, Marzocchi G, et al. GIMEMA Working Party on CML. Chromosome abnormalities additional to the Philadelphia chromosome at the diagnosis of chronic myelogenous leukemia: pathogenetic and prognostic implications. Cancer Genet Cytogenet. 2010;199:76–80.
Wetzler M, Dodge RK, Mrózek K, Stewart CC, Carroll AJ, Tantravahi R, et al. Additional cytogenetic abnormalities in adults with Philadelphia chromosome-positive acute lymphoblastic leukaemia: a study of the Cancer and Leukaemia Group B. Br J Haematol. 2004;124:275–88.
De Braekeleer E, Basinko A, Douet-Guilbert N, Morel F, Le Bris MJ, Berthou C, et al. Cytogenetics in pre-B and B-cell acute lymphoblastic leukemia: a study of 208 patients diagnosed between 1981 and 2008. Cancer Genet Cytogenet. 2010;200:8–15.
Harrison CJ, Haas O, Harbott J, Biondi A, Stanulla M, Trka J, Izraeli S, Biology and Diagnosis Committee of International Berlin-Frankfürt-Münster study group. Detection of prognostically relevant genetic abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: recommendations from the Biology and Diagnosis Committee of the International Berlin-Frankfürt-Münster study group. Br J Haematol. 2010;151:132–42.
Reichel M, Gillert E, Angermuller S, et al. Based distribution of chromosomal breakpoints involving the MLL gene in infants versus children and adults with t(4;11) ALL. Oncogene. 2001;20:2900.
Fu JF, Liang DC, Shih LY. Analysis of acute leukemias with MLL/ENL fusion transcripts: identification of two novel breakpoints in ENL. Am J Clin Pathol. 2007;127:24–30.
De Braekeleer E, Meyer C, Le Bris MJ, Douet-Guilbert N, Basinko A, Morel F, et al. Identification of a MLL-MLLT4 fusion gene resulting from a t(6;11)(q27;q23) presenting as a del(11q) in a child with T-cell acute lymphoblastic leukemia. Leuk Lymphoma. 2010;51:1570–3.
Mansur MB, Emerenciano M, Splendore A, Brewer L, Hassan R, Pombo-de-Oliveira MS, Brazilian Collaborative Study Group of Infant Acute Leukemia. T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements. Leuk Res. 2010;34:483–6.
Barber KE, Harrison CJ, Broadfield ZJ, Stewart AR, Wright SL, Martineau M, Strefford JC, Moorman AV. Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2007;46:478–86.
Forestier E, Johansson B, Gustafsson G, Borgström G, Kerndrup G, Johannsson J, Heim S. Prognostic impact of karyotypic findings in childhood acute lymphoblastic leukaemia: a Nordic series comparing two treatment periods. For the Nordic Society of Paediatric Haematology and Oncology (NOPHO) Leukaemia Cytogenetic Study Group. Br J Haematol. 2000;110:147–53.
Baudis M, Prima V, Tung YH, Hunger SP. ABCB1 over-expression and drug-efflux in acute lymphoblastic leukemia cell lines with t(17;19) and E2A-HLF expression. Pediatr Blood Cancer. 2006;47:757–64.
Shearer BM, Flynn HC, Knudson RA, Ketterling RP. Interphase FISH to detect PBX1/E2A fusion resulting from the der(19)t(1;19)(q23;p13.3) or t(1;19)(q23;p13.3) in paediatric patients with acute lymphoblastic leukaemia. Br J Haematol. 2005;129:45–52.
Heerema NA, Nachman JB, Sather HN, et al. Hypodiploidy with less than 45 chromosomes confers adverse risk in childhood acute lymphoblastic leukemia: a report from the Children’s Cancer Group. Blood. 1999;94:4036.
Nachman JR, Herema NA, Sather H, et al. Outcome of children with hypodiploid acute lymphoblastic leukemia. Blood. 2007;110:1112.
Das PK, Sharma P, Koutts J, Smith A. Hypodiploidy of 37 chromosomes in an adult patient with acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2003;145:176–8.
Harrison CJ, Moorman AV, Broadfield ZJ, Cheung KL, Harris RL, Reza Jalali G, et al. Childhood and Adult Leukaemia Working Parties. Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia. Br J Haematol. 2004;125:552–9.
Nachman JB, Heerema NA, Sather H, Camitta B, Forestier E, Harrison CJ, Dastugue N, Schrappe M, Pui CH, Basso G, Silverman LB, Janka-Schaub GE. Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia. Blood. 2007;110:1112–5.
Rachieru-Sourisseau P, Baranger L, Dastugue N, Robert A, Geneviève F, Kuhlein E, Chassevent A. DNA Index in childhood acute lymphoblastic leukaemia: a karyotypic method to validate the flow cytometric measurement. Int J Lab Hematol. 2010;32: 288–98.
Paulsson K, Johansson B. High hyperdiploid childhood acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2009;48: 637–60.
Tauro S, McMullan D, Griffiths M, Craddock C, Mahendra P. High-hyperdiploidy in Philadelphia positive adult acute lymphoblastic leukaemia: case-series and review of literature. Bone Marrow Transplant. 2003;31:763–6.
Mertens F, Johansson B, Mitelman F. Dichotomy of hyperdiploid acute lymphoblastic leukemia on the basis of the distribution of gained chromosomes. Cancer Genet Cytogenet. 1996;92:8–10.
Romana SP, Le Coniat M, Berger R. t(12;21): a new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer. 1994;9:186.
Forestier E, Andersen MK, Autio K, Blennow E, Borgström G, Golovleva I, et al. Cytogenetic patterns of ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: a Nordic series of 245 cases and review of the literature. Genes Chromosomes Cancer. 2007;46:440.
Attarbaschi A, Mann G, König M, Dworzak MN, Trebo MM, Mühlegger N, Gadner H, Haas OA, Austrian Berlin-Frankfurt-Münster cooperative study group. Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia: an interphase FISH analysis. Leukemia. 2004;18:1611–6.
Cave H, Cacheux V, Raynaud S, et al. ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemia. Leukemia. 1997;11:1459.
De Braekeleer E, Férec C, De Braekeleer M. RUNX1 translocations in malignant hemopathies. Anticancer Res. 2009;29: 1031–7.
McHale CM, Wiemels JL, Zhang L, Ma X, Buffler PA, Guo W, Loh ML, Smith MT. Prenatal origin of TEL-AML1-positive acute lymphoblastic leukemia in children born in California. Genes Chromosomes Cancer. 2003;37:36–43.
Hjalgrim LL, Madsen HO, Melbye M, Jørgensen P, Christiansen M, Andersen MT, et al. Presence of clone-specific markers at birth in children with acute lymphoblastic leukaemia. Br J Cancer. 2002;87:994–9.
Moosavi SA, Sanchez J, Adeyinka A. Marker chromosomes are a significant mechanism of high-level RUNX1 gene amplification in hematologic malignancies. Cancer Genet Cytogenet. 2009;189:24–8.
Novara F, Beri S, Bernardo ME, Bellazzi R, Malovini A, Ciccone R, Cometa AM, Locatelli F, Giorda R, Zuffardi O. Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. Hum Genet. 2009;126:511–20.
Usvasalo A, Ninomiya S, Räty R, Hollmén J, Saarinen-Pihkala UM, Elonen E, Knuutila S. Focal 9p instability in hematologic neoplasias revealed by comparative genomic hybridization and single-nucleotide polymorphism microarray analyses. Genes Chromosomes Cancer. 2010;49:309–18.
Leblanc T, Derré J, Flexor M, Le Coniat M, Leroux D, Rimokh R, Larsen CJ, Berger R. FISH analysis of translocations involving the short arm of chromosome 9 in lymphoid malignancies. Genes Chromosomes Cancer. 1997;19:273–7.
Nahi H, Hägglund H, Ahlgren T, Bernell P, Hardling M, Karlsson K, Lazarevic VLj, Linderholm M, Smedmyr B, Aström M, Hallböök H. An investigation into whether deletions in 9p reflect prognosis in adult precursor B-cell acute lymphoblastic leukemia: a multi-center study of 381 patients. Haematologica. 2008;93(11):1734–8.
Heerema NA. 9p Rearrangements in ALL. Atlas Genet Cytogenet Oncol Haematol. 1999. URL: http://AtlasGeneticsOncology.org/Anomalies/9prearrALLID1156.html.
Heerema NA, Maben KD, Bernstein J, Breitfeld PP, Neiman RS, Vance GH. Dicentric (9;20)(p11;q11) identified by fluorescence in situ hybridization in four pediatric acute lymphoblastic leukemia patients. Cancer Genet Cytogenet. 1996;92:111–5.
Lundin C, Heldrup J, Ahlgren T, Olofsson T, Johansson B. B-cell precursor t(8;14)(q11;q32)-positive acute lymphoblastic leukemia in children is strongly associated with Down syndrome or with a concomitant Philadelphia chromosome. Eur J Haematol. 2009;82:46–53.
Duro D, Bernard O, Della Valle V, Leblanc T, Berger R, Larsen CJ. Inactivation of the P16INK4/MTS1 gene by a chromosome translocation t(9;14)(p21-22;q11) in an acute lymphoblastic leukemia of B-cell type. Cancer Res. 1996;56:848–54.
Wong KF, Kwong YL, Wong TK. Inversion 14q in acute lymphoblastic leukemia of B-lineage. Cancer Genet Cytogenet. 1995; 80:72–4.
Akasaka T, Balasias T, Russell LJ, et al. Five members of the CEBP transcription factor family are targeted by recurrent IGH translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood. 2007;109:3451.
Baumgarten E, Wegner RD, Fengler R, Ludwig WD, Schulte-Overberg U, Domeyer C, Schüürmann J, Henze G. Calla-positive acute leukaemia with t(5q;14q) translocation and hypereosinophilia–a unique entity? Acta Haematol. 1989;82:85–90.
Russell LJ, Akasaka T, Majid A, Sugimoto KJ, Loraine Karran E, Nagel I, et al. t(6;14)(p22;q32): a new recurrent IGH@ translocation involving ID4 in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Blood. 2008;111:387–91.
Iida S, Rao PH, Ueda R, Chaganti RSK, Dalla-Favera R. Chromosomal rearrangements of the PAX-5 locus in lymphoplasmacytic lymphoma with t(9;14)(p13;q32). Leuk Lymphoma. 1999;34:25.
Meloni-Ehrig AM, Tirado CA, Chen K, Jahn J, Suchan S, Scheerle J, et al. Isolated del(14)(q21) in a case of precursor B-cell acute lymphoblastic leukemia. Cancer Genet Cytogenet. 2005;161: 82–5.
Mullighan CG, Collins-Underwood JR, Phillips LA, Loudin MG, Liu W, Zhang J, et al. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat Genet. 2009;41:1243–6.
Hertzberg L, Vendramini E, Ganmore I, Cazzaniga G, Schmitz M, Chalker J, et al. Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. Blood. 2010;115:1006–17.
Onciu M, Lai R, Vega F, Bueso-Ramos C, Medeiros LJ. Precursor T-cell acute lymphoblastic leukemia in adults: age-related immunophenotypic, cytogenetic, and molecular subsets. Am J Clin Pathol. 2002;117:252–8.
Assumpção JG, Ganazza MA, de Araújo M, Silva AS, Scrideli CA, Brandalise SR, Yunes JA. Detection of clonal immunoglobulin and T-cell receptor gene rearrangements in childhood acute lymphoblastic leukemia using a low-cost PCR strategy. Pediatr Blood Cancer. 2010;55:1278–86.
Cauwelier B, Dastugne N, Cools J, et al. Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCR beta locus rearrangements and putative new T-cell oncogenes. Leukemia. 2006;20:1238.
Graux C, Cools J, Michaux L, Vandenberghe P, Hagemeijer A. Cytogenetics and molecular genetics of T-cell acute lymphoblastic leukemia: from thymocyte to lymphoblast. Leukemia. 2006;20:1496–510.
Pekarsky Y, Hallas C, Isobe M, Russo G, Croce CM. Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes. Proc Natl Acad Sci USA. 1999;96(6):2949–51.
Przybylski GK, Dik WA, Wanzeck J, Grabarczyk P, Majunke S, Martin-Subero JI, et al. Disruption of the BCL11B gene through inv(14)(q11.2q32.31) results in the expression of BCL11B-TRDC fusion transcripts and is associated with the absence of wild-type BCL11B transcripts in T-ALL. Leukemia. 2005;19(2):201–8.
Pomerantz J, Schreiber AN, Liegeois NJ, Silverman A, Alland L, Chin L, et al. The Ink4a tumor suppressor gene product, p19Arf, interacts with MDM2 and neutralizes MDM2’s inhibition of p53. Cell. 1998;92:713–23.
Iolascon A, Faienza MF, Coppola B, della Ragione F, Schettini F, Biondi A. Homozygous deletions of cyclin-dependent kinase inhibitor genes, p16(INK4A) and p18, in childhood T cell lineage acute lymphoblastic leukemias. Leukemia. 1996;10:255–60.
Graux C, Cools J, Melotte C, Quentmeier H, Ferrando A, Levine R, et al. Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet. 2004;36:1084–9.
Hagemeijer A, Graux C. ABL1 rearrangements in T-cell acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2010;49:299–308.
Quintás-Cardama A, Tong W, Manshouri T, Vega F, Lennon PA, Cools J, et al. Activity of tyrosine kinase inhibitors against human NUP214-ABL1-positive T cell malignancies. Leukemia. 2008;22:1117–24.
Willis TG, Dyer MJS. The role of immunoglobulin translocations in the pathogenesis of B-cell malignancies. Blood. 2000;96:808.
Larramendy ML, Siitonen SM, Zhu Y, Hurme M, Vilpo L, Vilpo JA, Knuutila S. Optimized mitogen stimulation induces proliferation of neoplastic B cells in chronic lymphocytic leukemia: significance for cytogenetic analysis. The Tampere Chronic Lymphocytic Leukemia group. Cytogenet Cell Genet. 1998;82(3–4):215–21.
Decker T, Hipp S, Kreitman RJ, Pastan I, Peschel C, Licht T. Sensitization of B-cell chronic lymphocytic leukemia cells to recombinant immunotoxin by immunostimulatory phosphorothioate oligodeoxynucleotides. Blood. 2002;99:1320–6.
Heerema NA, Byrd JC, Dal Cin PS, Dell’ Aquila ML, Koduru PR, Aviram A, et al. Stimulation of chronic lymphocytic leukemia cells with CpG oligodeoxynucleotide gives consistent karyotypic results among laboratories: a CLL Research Consortium (CRC) Study Chronic Lymphocytic Leukemia Research Consortium. Cancer Genet Cytogenet. 2010;203:134–40.
Meloni-Ehrig A, Meck J, Christacos N, Kelly J, Matyakhina L, Schonberg S, et al. Stimulation of B-cell mature malignancies with the CpG-oligonucleotide DSP30 and interleukin-2 for improved detection of chromosome abnormalities. Blood. 2009;114:1955.
Staud LM. A closer look at follicular lymphoma. N Engl J Med. 2007;356:741.
Jager U, Bocskor S, Le T, et al. Follicular lymphomas’ BCL-2/IGH junctions contain templated nucleotide insertions: novel insights into the mechanism of t(14;18) translocation. Blood. 2000;95:3520.
Bentley G, Palutke M, Mohamed AN. Variant t(14;18) in malignant lymphoma: a report of seven cases. Cancer Genet Cytogenet. 2005;157:12–7.
Nanjangud G, Rao PH, Teruya-Feldstein J, Donnelly G, Qin J, Mehra S, et al. Molecular cytogenetic analysis of follicular lymphoma (FL) provides detailed characterization of chromosomal instability associated with the t(14;18)(q32;q21) positive and negative subsets and histologic progression. Cytogenet Genome Res. 2007;118:337–44.
Eide MB, Liestøl K, Lingjaerde OC, Hystad ME, Kresse SH, Meza-Zepeda L, Myklebost O, Trøen G, Aamot HV, Holte H, Smeland EB, Delabie J. Genomic alterations reveal potential for higher grade transformation in follicular lymphoma and confirm parallel evolution of tumor cell clones. Blood. 2010;116:1489–97.
Oschlies I, Salaverria I, Mahn F, Meinhardt A, Zimmermann M, Woessmann W, et al. Pediatric follicular lymphoma–a clinico-pathological study of a population-based series of patients treated within the Non-Hodgkin’s Lymphoma–Berlin-Frankfurt-Munster (NHL-BFM) multicenter trials. Haematologica. 2010;95: 253–9.
Coakley D. Denis Burkitt and his contribution to haematology/oncology. Br J Haematol. 2006;135:17–25.
Bishop PC, Rao VK, Wilson WH. Burkitt’s lymphoma: molecular pathogenesis and treatment. Cancer Invest. 2000;18:574.
Boerma EG, Siebert R, Kluin PM, Baudis M. Translocations involving 8q24 in Burkitt lymphoma and other malignant lymphomas: a historical review of cytogenetics in the light of todays knowledge. Leukemia. 2009;23:225–34.
Gatter K, Pezzella F. Diffuse large C-cell lymphoma. Diagn Histopathol. 2010;16:69–81.
Barrans SL, Evans PA, O’Connor SJ, Kendall SJ, Owen RG, Haynes AP, et al. The t(14;18) is associated with germinal center-derived diffuse large B-cell lymphoma and is a strong predictor of outcome. Clin Cancer Res. 2003;9:2133–9.
Abdel-Ghaffar H, El-Aziz SA, Shahin D, Degheidy H, Selim T, Elsobky E, et al. Prognostic value of the t(14;18)(q32;q21) in patients with diffuse large B-cell lymphoma. Cancer Invest. 2010;28:376–80.
Ohno H, Fukuhara S. Significance of rearrangement of the BCL6 gene in B-cell lymphoid neoplasms. Leuk Lymphoma. 1997;27:53–63.
Pasqualucci L, Migliazza A, Basso K, Houldsworth J, Chaganti RS, Dalla-Favera R. Mutations of the BCL6 proto-oncogene disrupt its negative autoregulation in diffuse large B-cell lymphoma. Blood. 2003;101:2914–23.
Barrans SL, O’Conner SJM, Evans PAS, et al. Rearrangement of the BCL6 locus at 3q27 is an independent poor prognostic factor in nodal diffuse large B-cell lymphoma. Br J Haematol. 2002;117:322.
Hoeller S, Schneider A, Haralambieva E, Dirnhofer S, Tzankov A. FOXP1 protein overexpression is associated with inferior outcome in nodal diffuse large B-cell lymphomas with non-germinal centre phenotype, independent of gains and structural aberrations at 3p14.1. Histopathology. 2010;57:73–80.
Hasserjian RP, Ott G, Elenitoba-Johnson KS, Balague-Ponz O, de Jong D, de Leval L. Commentary on the WHO classification of tumors of lymphoid tissues (2008): “Gray zone” lymphomas overlapping with Burkitt lymphoma or classical Hodgkin lymphoma. J Hematopathol. 2009;2:89–95.
Carbone A, Gloghini A, Aiello A, Testi A, Cabras A. B-cell lymphomas with features intermediate between distinct pathologic entities. From pathogenesis to pathology. Hum Pathol. 2010;41:621–31.
Bertrand P, Bastard C, Maingonnat C, Jardin F, Maisonneuve C, Courel MN, et al. Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas. Leukemia. 2007;21:515–23.
Snuderl M, Kolman OK, Chen YB, Hsu JJ, Ackerman AM, Dal Cin P, et al. B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements are aggressive neoplasms with clinical and pathologic features distinct from Burkitt lymphoma and diffuse large B-cell lymphoma. Am J Surg Pathol. 2010;34:327–40.
García JF, Mollejo M, Fraga M, Forteza J, Muniesa JA, Pérez-Guillermo M, et al. Large B-cell lymphoma with Hodgkin’s features. Histopathology. 2005;47:101–10.
Bertoni F, Rinaldi A, Zucca E, Cavalli F. Update on the molecular biology of mantle cell lymphoma. Hematol Oncol. 2006; 24:22027.
Bertoni F, Zucca F, Cotter FE. Molecular basis of mantle cell lymphoma. Br J Haematol. 2004;124:130.
Li J-Y, Gaillard F, Moreau A, et al. Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization. Am J Pathol. 1999;154:1449.
Komatsu H, Iida S, Yamamoto K, Mikuni C, Nitta M, Takahashi T, et al. A variant chromosome translocation at 11q13 identifying PRAD1/cyclin D1 as the BCL-1 gene. Blood. 1994;84:1226–31.
Wlodarska I, Meeus P, Stul M, Tienpont L, Wouters E, Marcelis L, et al. Variant t(2;11)(p11;q13) associated with the IgK-CCND1 rearrangement is a recurrent translocation in leukemic small-cell B-non-Hodgkin lymphoma. Leukemia. 2004;18:1705–10.
Fu K, Weisenbarger DD, Griener TC, et al. Cyclin D1-negative mantle cell lymphoma: a clinicopathologic study based on gene-expression profiling. Blood. 2005;106:4315.
Metcalf RA, Zhao S, Anderson MW, Lu ZS, Galperin I, Marinelli RJ, Cherry AM, Lossos IS, Natkunam Y. Characterization of D-cyclin proteins in hematolymphoid neoplasms: lack of specificity of cyclin-D2 and D3 expression in lymphoma subtypes. Mod Pathol. 2010;23:420–33.
Wlodarska I, Dierickx D, Vanhentenrijk V, Van Roosbroeck K, Pospísilová H, Minnei F, et al. Translocations targeting CCND2, CCND3, and MYCN do occur in t(11;14)-negative mantle cell lymphomas. Blood. 2008;111:5683–90.
Parrens M, Belaud-Rotureau MA, Fitoussi O, Carerre N, Bouabdallah K, et al. Blastoid and common variants of mantle cell lymphoma exhibit distinct immunophenotypic and interphase FISH features. Histopathology. 2006;48:353–62.
Huret JL. t(11;14)(q13;q32). Atlas Genet Cytogenet Oncol Haematol. 1998. URL: http://AtlasGeneticsOncology.org/Anomalies/t1114ID2021.html.
Sagaert X, Tousseyn T. Marginal zone B-cell lymphomas. Discov Med. 2010;10:79–86.
Zullo A, Hassan C, Cristofari F, Perri F, Morini S. Gastric low-grade mucosal-associated lymphoid tissue-lymphoma: Helicobacter pylori and beyond. World J Gastrointest Oncol. 2010;2:181–6.
Dierlman J, Baens M, Wlodarska I, et al. The apoptosis inhibitor gene API2 and a novel 18q gene MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphoma. Blood. 1999;93:3601.
Murga Penas EM, Callet-Bauchu E, Ye H, Gazzo S, Berger F, Schilling G, et al. The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma. Blood. 2010;115:2214–9.
Du MQ. MALT lymphoma: many roads lead to nuclear factor-κb activation. Histopathology. 2011;58:26–38.
Sagaert X, De Wolf-Peeters C, Noels H, Baens M. The pathogenesis of MALT lymphomas: where do we stand? Leukemia. 2007;21:389–96.
Oscier D, Owen R, Johnson S. Splenic marginal zone lymphoma. Blood Rev. 2005;9:39–51.
Baró C, Salido M, Espinet B, Astier L, Domingo A, Granada I, et al. New chromosomal alterations in a series of 23 splenic marginal zone lymphoma patients revealed by spectral karyotyping (SKY). Leuk Res. 2008;32:727–36.
Watkins AJ, Huang Y, Ye H, Chanudet E, Johnson N, Hamoudi R, et al. Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis. J Pathol. 2010;220:461–74.
Gazzo S, Baseggio L, Coignet L, Poncet C, Morel D, Coiffier B, et al. Cytogenetic and molecular delineation of a region of chromosome 3q commonly gained in marginal zone B-cell lymphoma. Haematologica. 2003;88:31–8.
Brynes RK, Almaguer PD, Leathery KE, McCourty A, Arber DA, Medeiros LJ, Nathwani BN. Numerical cytogenetic abnormalities of chromosomes 3, 7, and 12 in marginal zone B-cell lymphomas. Mod Pathol. 1996;9:995–1000.
Salido M, Baró C, Oscier D, Stamatopoulos K, Dierlamm J, Matutes E, et al. Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group. Blood. 2010;116:1479–88.
Salama ME, Lossos IS, Warnke RA, Natkunam Y. Immunoarchitectural patterns in nodal marginal zone B-cell lymphoma: a study of 51 cases. Am J Clin Pathol. 2009;132:39–49.
Vitolo U, Ferreri AJM, Montoto S. Lymphoplasmacytic lymphoma–Waldenstrom’s macroglobulinemia. Crit Rev Oncol Hematol. 2008;67:172–85.
Krishnan C, Cupp JS, Arber DA, Faix JD. Lymphoplasmacytic lymphoma arising in the setting of hepatitis C and mixed cryoglobulinemia. J Clin Oncol. 2007;25:4312–4.
Altieri A, Bermejo JL, Hemminki K. Familial aggregation of lymphoplasmacytic lymphoma with non-Hodgkin lymphoma and other neoplasms. Leukemia. 2005;19:2342–3.
Buckley PG, Walsh SH, Laurell A, Sundström C, Roos G, Langford CF, et al. Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations. Leuk Lymphoma. 2009;50:1528–34.
Cook JR, Aguilera NI, Reshmi S, Huang X, Yu Z, Gollin SM, et al. Deletion 6q is not a characteristic marker of nodal lymphoplasmacytic lymphoma. Cancer Genet Cytogenet. 2005;162:85–8.
Schop RF, Kuehl WM, Van Wier SA, Ahmann GJ, Price-Troska T, Bailey RJ, et al. Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions. Blood. 2002;100:2996–3001.
Hasserjian RP. Chronic lymphocytic leukemia, small lymphocytic, lymphoma, and monoclonal b-cell lymphocytosis. Surg Pathol. 2010;3:907–31.
Hamblin TJ. Just exactly how common is CLL? Leukemia Res. 2009;33:1452–3.
Goldin LR, Pfeiffer RM, Li X, Hemminki K. Familial risk of lymphoproliferative tumors in families of patients with chronic lymphocytic leukemia: results from the Swedish Family-Cancer Database. Blood. 2004;104:1850–4.
Dohner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med. 2000;343:1910–6.
Seiler T, Döhner H, Stilgenbauer S. Risk stratification in chronic lymphocytic leukemia. Semin Oncol. 2006;33:186–94.
Montserrat E. New prognostic markers in CLL. Hematol Am Soc Hamatol Educ Program. 2006:279–84.
Tsimberidou AM, O’Brien S, Khouri I, Giles FJ, Kantarjian HM, Champlin R, et al. Clinical outcomes and prognostic factors in patients with Richter’s syndrome treated with chemotherapy or chemoimmunotherapy with or without stem-cell transplantation. J Clin Oncol. 2006;24:2343–51.
Van Dyke DL, Shanafelt TD, Call TG, Zent CS, Smoley SA, Rabe KG, et al. A comprehensive evaluation of the prognostic significance of 13q deletions in patients with B-chronic lymphocytic leukaemia. Br J Haematol. 2010;148:544–50.
Döhner H, Stilgenbauer S, Döhner K, Bentz M, Lichter P. Chromosome aberrations in B-cell chronic lymphocytic leukemia: reassessment based on molecular cytogenetic analysis. J Mol Med. 1999;77(2):266–81.
Calin GA, Dumitru CD, Shimizu M, et al. Frequent deletions and down-regulation of micro-RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci USA. 2002;99:15524–9.
Quijano S, López A, Rasillo A, Sayagués JM, Barrena S, Sánchez ML, et al. Impact of trisomy 12, del(13q), del(17p), and del(11q) on the immunophenotype, DNA ploidy status, and proliferative rate of leukemic B-cells in chronic lymphocytic leukemia. Cytometry B Clin Cytom. 2008;74:139–49.
Ripollés L, Ortega M, Ortuño F, González A, Losada J, Ojanguren J, et al. Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2006;171:57–64.
Tsimberidou AM, Keating MJ. Richter syndrome: biology, incidence, and therapeutic strategies. Cancer. 2005;103:216–28.
Stevens-Kroef M, Simons A, Gorissen H, Feuth T, Weghuis DO, Buijs A, et al. Identification of chromosomal abnormalities relevant to prognosis in chronic lymphocytic leukemia using multiplex ligation-dependent probe amplification. Cancer Genet Cytogenet. 2009;195:97–104.
Reindl L, Bacher U, Dicker F, Alpermann T, Kern W, Schnittger S, et al. Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms. Br J Haematol. 2010;151:25–36.
Sen F, Lai R, Albitar M. Chronic lymphocytic leukemia with t(14;18) and trisomy 12. Arch Pathol Lab Med. 2002;126:1543–6.
Zenz T, Fröhling S, Mertens D, Döhner H, Stilgenbauer S. Moving from prognostic to predictive factors in chronic lymphocytic leukaemia (CLL). Best Pract Res Clin Haematol. 2010;23:71–84.
Jeggo PA, Carr AM, Lehmann AR. Splitting the ATM: distinct repair and checkpoint defects in ataxia–telangiectasia. Trends Genet. 1998;14:312–6.
Zenza T, Fröhlinga S, Mertensa D, Döhnera H, Stilgenbauera S. Moving from prognostic to predictive factors in chronic lymphocytic leukaemia (CLL). Best Pract Res Clin Haematol. 2010;23:71–84.
Vahdati M, Graafland H, Emberger JM. Isochromosome 17q in cell lines of two cases of B cell chronic lymphocytic leukemia. Cancer Genet Cytogenet. 1983;9:227–32.
Dicker F, Herholz H, Schnittger S, et al. The detection of TP53 mutations in chronic lymphocytic leukemia independently predicts rapid disease progression and is highly correlated with a complex aberrant karyotype. Leukemia. 2009;23:117–24.
Cuneo A, Rigolin GM, Bigoni R, De Angeli C, Veronese A, Cavazzini F, et al. Chronic lymphocytic leukemia with 6q- shows distinct hematological features and intermediate prognosis. Leukemia. 2004;18:476–83.
Stilgenbauer S, Bullinger L, Benner A, Wildenberger K, Bentz M, Döhner K, Ho AD, et al. Incidence and clinical significance of 6q deletions in B cell chronic lymphocytic leukemia. Leukemia. 1999;13:1331–4.
Lawce HBscClspCg, Olson S. FISH testing for deletions of chromosome 6q21 and 6q23 in hematologic neoplastic disorders. J Assoc Genet Technol. 2009;35:167–9.
De Angeli C, Gandini D, Cuneo A, Moretti S, Bigoni R, Roberti MG, et al. BCL-1 rearrangements and p53 mutations in atypical chronic lymphocytic leukemia with t(11;14)(q13;q32). Haematologica. 2000;85:913–21.
De Angeli C, Gandini D, Cuneo A, Moretti S, Bigoni R, Roberti MG, et al. BCL-1 rearrangements and p53 mutations in atypical chronic lymphocytic leukemia with t(11;14)(q13;q32). Haematologica. 2000;85(9):913–21.
Yin CC, Lin KI, Ketterling RP, Knudson RA, Medeiros LJ, Barron LL, et al. Chronic lymphocytic leukemia with t(2;14)(p16;q32) involves the BCL11A and IgH genes and is associated with atypical morphologic features and unmutated IgVH genes. Am J Clin Pathol. 2009;131:663–70.
Schweighofer CD, Huh YO, Luthra R, Sargent RL, Ketterling RP, Knudson RA, et al. The B cell antigen receptor in atypical chronic lymphocytic leukemia with t(14;19)(q32;q13) demonstrates remarkable stereotypy. Int J Cancer. 2011;128(11):2759–64.
Quintero-Rivera F, Nooraie F, Rao PN. Frequency of 5′IGH deletions in B-cell chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2009;190:33–9.
Irons RD, Le A, Bao L, Zhu X, Ryder J, et al. Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns. Leukemia Res. 2008;33:1599–603.
Kröber A, Seiler T, Benner A, Bullinger L, Brückle E, Lichter P, et al. V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood. 2002;100:1410–6.
Klein U, Dalla-Favera R. New insights into the pathogenesis of chronic lymphocytic leukemia. Semin Cancer Biol. 2010;20:377–83.
Lau LC, Lim P, Lim YC, Teng LM, Lim TH, Lim LC, Tan SY, Lim ST, Sanger WG, Tien SL. Occurrence of trisomy 12, t(14;18)(q32;q21), and t(8;14)(q24.1;q11.2) in a patient with B-cell chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2008;185:95–101.
Karakosta M, Voulgarelis M, Vlachadami I, Manola KN. Translocation (6;13)(p21;q14.1) as a rare nonrandom cytogenetic abnormality in chronic lymphocytic leukemia. Cancer Genet Cytogenet. 2010;198:66–70.
Dicker F, Schnittger S, Haferlach T, Kern W, Schoch C. Immunostimulatory oligonucleotide-induced metaphase cytogenetics detect chromosomal aberrations in 80% of CLL patients: a study of 132 CLL cases with correlation to FISH, IgVH status, and CD38 expression. Blood. 2006;108:3152–60.
Moreno C, Montserrat E. New prognostic markers in chronic lymphocytic leukemia. Blood Rev. 2008;22:211–9.
Deaglio S, Vaisitti T, Aydin S, et al. In-tandem insight from basic science combined with clinical research: CD38 as both marker and key component of the pathogenetic network underlying chronic lymphocytic leukemia. Blood. 2006;108:1135–44.
Wilhelm C, Neubauer A, Brendel C. Discordant results of flow cytometric ZAP-70 expression status in B-CLL samples if different gating strategies are applied. Cytometry B Clin Cytom. 2006;70:242–50.
Morilla A, Gonzalez de Castro D, Del Giudice I, Osuji N, Else M, et al. Combinations of ZAP-70, CD38 and IGHV mutational status as predictors of time to first treatment in CLL. Leuk Lymphoma. 2008;49:2108–15.
Naeim F, Rao PN, Grody WW, editors. Mature B-Cell neoplasms. In: Hematopathology: morphology, immunophenotype, cytogenetics and molecular approaches. Chapter 15. Burlington: Academic/Elsevier; 2008. pp. 297–372.
Schlette E, Bueso-Ramos C, Giles F, Glassman A, Hayes K, Medeiros LJ. Mature B-cell leukemia with more than 55% prolymphocytes. A heterogeneous group that includes an unusual variant of mantle cell lymphoma. Am J Clin Pathol. 2001;115: 571–81.
Lens D, Coignet LJ, Brito-Babapulle V, Lima CS, Matutes E, Dyer MJ, Catovsky D. B cell prolymphocytic leukaemia (B-PLL) with complex karyotype and concurrent abnormalities of the p53 and c-MYC gene. Leukemia. 1999;13:873–6.
Hercher C, Robain M, Davi F, Garand R, Flandrin G, Valensi F, et al. Groupe Français d’Hématologie Cellulaire. A multicentric study of 41 cases of B-prolymphocytic leukemia: two evolutive forms. Leuk Lymphoma. 2001;42:981–7.
His ED. The leukemias of mature lymphocytes. Hematol Oncol Clin N Am. 2009;23:843–71.
Cook JR. Splenic B-cell lymphomas/leukemias. Surg Pathol Clin. 2010;3:933–54.
Robak T. Hairy-cell leukemia variant: recent view on diagnosis, biology and treatment. Cancer Treat Rev. 2011;37:3–10.
Solé F, Woessner S, Florensa L, Espinet B, Lloveras E, et al. Cytogenetic findings in five patients with hairy cell leukemia. Cancer Genet Cytogenet. 1999;110:41–3.
Vallianatou K, Brito-Babapulle V, Matutes E, Atkinson S, Catovsky D. p53 gene deletion and trisomy 12 in hairy cell leukemia and its variant. Leuk Res. 1999;23:1041–5.
Palumbo A, Anderson K. Multiple myeloma. N Engl J Med. 2011;364:1046–60.
Sawyer JR. Metaphase cytogenetic techniques in multiple myeloma. Methods Mol Biol. 2011;730:149–58.
Campbell LJ. Conventional cytogenetics in myeloma. Methods Mol Med. 2005;113:37–47.
Bacher U, Haferlach T, Kern W, Alpermann T, Schnittger S, Haferlach C. Correlation of cytomorphology, immunophenotyping, and interphase fluorescence in situ hybridization in 381 patients with monoclonal gammopathy of undetermined significance and 301 patients with plasma cell myeloma. Cancer Genet Cytogenet. 2010;203:169–75.
Pozdnyakova O, Crowley-Larsen P, Zota V, Wang SA, Miron PM. Interphase FISH in plasma cell dyscrasia: increase in abnormality detection with plasma cell enrichment. Cancer Genet Cytogenet. 2009;189:112–7.
Sawyer JR. The prognostic significance of cytogenetics and molecular profiling in multiple myeloma. Cancer Genet. 2011;204(1):3–12.
Smadja NV, Bastard C, Brigaudeau C, Leroux D, Fruchart C, Groupe Français de Cytogénétique Hématologique. Hypodiploidy is a major prognostic factor in multiple myeloma. Blood. 2001;98:2229–38.
Fonseca R, Barlogie B, Bataille R, Bastard C, Bergsagel PL, Chesi M, et al. Genetics and cytogenetics of multiple myeloma: a workshop report. Cancer Res. 2004;64:1546–58.
Zojer N, Koningsberg R, Ackermann J, et al. Deletion of 13q14 remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization. Blood. 2000;95:1925.
Avet-Louseau H, Daviet A, Sauner S, Bataille R. Chromosome 13 abnormalities in multiple myeloma are mostly monosomy 13. Br J Haematol. 2000;111:1116.
Fonseca R, Oken MM, Harrington D, et al. Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy. Leukemia. 2001;15:981.
Chng WJ, Santana-Davila R, Van Wier SA, et al. Prognostic factors for hyperdiploid-myeloma: effect of chromosome 13 deletions and IGH translocations. Leukemia. 2006;20:807.
Kaufmann H, Kromer E, Nosslinger T, et al. Both chromosome 13 abnormalities by metaphase cytogenetics and deletion of 13q by interphase FISH only are prognostically relevant in multiple myeloma. Eur J Haematol. 2003;71:179.
Chang H, Qi C, Yi QL, et al. P53 gene deletion detected by fluorescence in situ hybridization is an adverse prognostic factor for patients with multiple myeloma following autologous stem cell transplantation. Blood. 2005;105:358.
Gertz MA, Lacy MQ, Dispenzieri A, et al. Clinical implications of t(11;14)(q13;q32), t(4;14)(p16.3;q32) and −17p13 in myeloma patients treated with high-dose therapy. Blood. 2005;106:2837.
Fonseca R, Bergsagel PL, Drach J, Shaughnessy J, Gutierrez N, Stewart AK, et al. International Myeloma Working Group. International Myeloma Working Group molecular classification of multiple myeloma: spotlight review. Leukemia. 2009;23: 2210–21.
Sawyer JR, Tricot G, Lukacs JL, et al. Genomic instability in multiple myeloma: evidence for jumping segmental duplications of chromosome 1q. Genes Chromosomes Cancer. 2005;42:95.
Sawyer JR, Tian E, Thomas E, Koller M, Stangeby C, Sammartino G, et al. Evidence for a novel mechanism for gene amplification in multiple myeloma: 1q12 pericentromeric heterochromatin mediates breakage-fusion-bridge cycles of a 1q12 approximately 23 amplicon. Br J Haematol. 2009;147:484–94.
Avet-Loiseau H, Garand R, Lode L, et al. Translocation t(11;14)(q13;q32) is the hallmark of IgM, IgE, and nonsecretory multiple myeloma variants. Blood. 2003;101:1570.
Keats JJ, Reiman T, Maxwell CA, et al. In multiple myeloma, t(4;14)(p16;q32) is an adverse prognostic factor irrespective of FGFR3 expression. Blood. 2003;101:1520.
Chang H, Stewart AK, Qi XY, et al. Immunohistochemistry accurately predicts FGFR3 aberrant expression and t(4;14) in multiple myeloma. Blood. 2005;106:353.
Owen RG, O’Connor SJ, Bond LR, de Tute RM, Rawstron AC. Translocation t(14;16) in IgM multiple myeloma. Br J Haematol. 2011;155(3):402–3.
Nishida K, Yashige H, Maekawa T, Fujii H, Taniwaki M, Horiike S, Misawa S, Inazawa J, Abe T. Chromosome rearrangement, t(6;14) (p21.1;q32.3), in multiple myeloma. Br J Haematol. 1989;71:295–6.
Ross FM, Chiecchio L, Dagrada G, Protheroe RK, Stockley DM, Harrison CJ, et al; UK Myeloma Forum. The t(14;20) is a poor prognostic factor in myeloma but is associated with long-term sTable disease in monoclonal gammopathies of undetermined significance. Haematologica. 2010;95:1221–5.
Fonseca R, Blood EA, Oken MM, et al. Myeloma and the t(11;14)(q13;q32): evidence for a biologically defined unique subsetof patients. Blood. 2002;99:3735–41.
Fenton JA, Pratt G, Rothwell DG, Rawstron AC, Morgan GJ. Translocation t(11;14) in multiple myeloma: analysis of translocation breakpoints on der(11) and der(14) chromosomes suggests complex molecular mechanisms of recombination. Genes Chromosomes Cancer. 2004;39:151–5.
Specht K, Haralambieva E, Bink K, Kremer M, Mandl-Weber S, Koch I, et al. Different mechanisms of cyclin D1 overexpression in multiple myeloma revealed by fluorescence in situ hybridization and quantitative analysis of mRNA levels. Blood. 2004;104:1120–6.
Feyler S, O’Connor SJ, Rawstron AC, Subash C, Ross FM, Pratt G, et al. IgM myeloma: a rare entity characterized by a CD20-CD56-CD117- immunophenotype and the t(11;14). Br J Haematol. 2008;140:547–51.
Chesi M, Nardini E, Lim RSC, et al. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcript. Blood. 1998;92:3025.
Avet-Loiseau H, Malard F, Campion L, Magrangeas F, Sebban C, Lioure B, et al. Intergroupe Francophone du Myélome. Translocation t(14;16) and multiple myeloma: is it really an independent prognostic factor? Blood. 2011;117:2009–11.
Chiecchio L, Dagrada GP, White HE, Towsend MR, Protheroe RK, Cheung KL, et al. UK Myeloma Forum. Frequent upregulation of MYC in plasma cell leukemia. Genes Chromosomes Cancer. 2009;48:624–36.
Avet-Loiseau H, Gerson F, Magrangeas F, et al. Intergroupe Francophone du Myélome. Rearrangements of c-myc oncogene are present in 15% of primary human multiple myeloma tumors. Blood. 2001;98:3082–6.
Gabrea A, Martelli ML, Qi Y, et al. Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and non-hyperdiploid myeloma tumors. Genes Chromosomes Cancer. 2008;47:573–90.
Dong HY, Scadden DT, de Leval L, et al. Plasmablastic lymphoma in HIV-positive patients: an aggressive Epstein-Barr virus-associated extramedullary plasmacytic neoplasm. Am J Surg Pathol. 2005;29:1633–41.
Delecluse HJ, Anagnostopoulos I, Dallenbach F, et al. Plasmablastic lymphomas of the oral cavity: a new entity associated with the human immunodeficiency virus infection. Blood. 1997;89:1413–20.
Schichman SA, McClure R, Schaefer RF, et al. HIV and plasmablastic lymphoma manifesting in sinus, testicles, and bones: a further expansion of the disease spectrum. Am J Hematol. 2004;77:291–5.
Taddesse-Heath L, Meloni-Ehrig A, Scheerle J, Kelly JC, Jaffe ES. Plasmablastic lymphoma with MYC translocation: evidence for a common pathway in the generation of plasmablastic features. Mod Pathol. 2010;23(7):991–9.
Schnitzer B. Hodgkin lymphoma. Hematol Oncol Clin N Am. 2009;23:747–68.
Hodgkin T. On some morbid experiences of the absorbent glands and spleen. Med Chir Trans. 1832;17:69–97.
Aldinucci D, Gloghini A, Pinto A, De Filippi R, Carbone A. The classical Hodgkin’s lymphoma microenvironment and its role in promoting tumour growth and immune escape. J Pathol. 2010;221:248–63.
Seif GS, Spriggs AI. Chromosome changes in Hodgkin’s disease. J Natl Cancer Inst. 1967;39:557–70.
Weber-Mathiensen K, Deerberg J, Poetsch M, et al. Numerical chromosome abnormalities are present within the CD34+ Hodgkin and Reed-Sternberg cells in 100% of analyzed cases of Hodgkin’s disease. Blood. 1995;86:1464.
Joos S, Menz CK, Wrobel G, et al. Classical Hodgkin lymphoma is characterized by recurrent copy number gains of the short arm of chromosome 2. Blood. 2002;99:1381.
Hartmann S, Martin-Subero JI, Gesk S, et al. Detection of genomic imbalances in microdissected Hodgkin and Reed–Sternberg cells of classical Hodgkin’s lymphoma by array-based comparative genomic hybridization. Haematologica. 2008;93:1318–26.
Panwalkar AW, Armitage JO. T-cell/NK-cell lymphomas: a review. Cancer Lett. 2007;253:1–13.
Iannitto E, Ferreri AJM, Minardi V, Tripodo C, Kreipe HH. Angioimmunoblastic T-cell lymphoma. Critical Rev Oncol Hematol. 2008;68:264–71.
Dearden CE. T-cell prolymphocytic leukemia. Clin Lymphoma Myeloma. 2009;9:S239–43.
Waldman TA, Davis MM, Bongiovanni KF, et al. Rearrangements of genes for the antigen receptor on T-cells as markers of lineage and clonality in human lymphoid neoplasms. N Engl J Med. 1985;313:776.
Ravandi F, O’Brien S, Jones D, Lerner S, Faderl S, Ferrajoli A, et al. T-cell prolymphocytic leukemia: a single-institution experience. Clin Lymphoma Myeloma. 2005;6:234–9.
de Oliveira FM, Tone LG, Simões BP, Rego EM, Marinato AF, Jácomo RH, Falcão RP. Translocations t(X;14)(q28;q11) and t(Y;14)(q12;q11) in T-cell prolymphocytic leukemia. Int J Lab Hematol. 2009;31(4):453–6.
Urbánková H, Holzerová M, Balcárková J, Raida L, Procházka V, Pikalová Z, Papajík T, Indrák K, Jarosová M. Array comparative genomic hybridization in the detection of chromosomal abnormalities in T-cell prolymphocytic leukemia. Cancer Genet Cytogenet. 2010;202(1):58–62.
Aozasa K, Zaki MA. Epidemiology and pathogenesis of nasal NK/T-cell lymphoma: a mini-review. Sci World J. 2011;11:422–8.
Ohshima K, Ohgami A, Matsuoka M, Etoh K, Utsunomiya A, Makino T, Ishiguro M, Suzumiya J, Kikuchi M. Random integration of HTLV-1 provirus: increasing chromosomal instability. Cancer Lett. 1998;132:203–12.
Kamada N, Sakurai M, Miyamoto K, Sanada I, Sadamori N, Fukuhara S, Abe S, Shiraishi Y, Abe T, Kaneko Y, et al. Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report. Cancer Res. 1992;52:1481–93.
Itoyama T, Chaganti RS, Yamada Y, Tsukasaki K, Atogami S, Nakamura H, Tomonaga M, Ohshima K, Kikuchi M, Sadamori N. Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki. Blood. 2001;97:3612–20.
Weidmann E. Hepatosplenic T cell lymphoma. A review on 45 cases since the first report describing the disease as a distinct lymphoma entity in 1990. Leukemia. 2000;14:991–7.
Tamaska J, Adam E, Kozma A, Gopcsa L, Andrikovics H, Tordai A, Halm G, Bereczki L, Bagdi E, Krenacs L. Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration. Virchows Arch. 2006;449:479–83.
Rossbach HC, Chamizo W, Dumont DP, Barbosa JL, Sutcliffe MJ. Hepatosplenic gamma/delta T-cell lymphoma with isochromosome 7q, translocation t(7;21), and tetrasomy 8 in a 9-year-old girl. J Pediatr Hematol Oncol. 2002;24:154–7.
Galper SL, Smith BD, Wilson LD. Diagnosis and management of mycosis fungoides. Oncology (Williston Park). 2010;24: 491–501.
Karenko L, Hahtola S, Ranki A. Molecular cytogenetics in the study of cutaneous T-cell lymphomas (CTCL). Cytogenet Genome Res. 2007;118:353–61.
Mao X, Lillington D, Scarisbrick JJ, Mitchell T, Czepulkowski B, Russell-Jones R, et al. Molecular cytogenetic analysis of cutaneous T-cell lymphomas: identification of common genetic alterations in Sézary syndrome and mycosis fungoides. Br J Dermatol. 2002;147:464–75.
Mao X, Lillington DM, Czepulkowski B, Russell-Jones R, Young BD, Whittaker S. Molecular cytogenetic characterization of Sézary syndrome. Genes Chromosomes Cancer. 2003;36: 250–60.
Foss FM, Zinzani PL, Vose JM, Gascoyne RD, Rosen ST, Tobinai K. Peripheral T-cell lymphoma. Blood. 2011;117(25):6756–67.
Savage KJ. Peripheral T-cell lymphomas. Blood Rev. 2007;21: 201–16.
Lepretre S, Buchonnet G, Stamatoullas A, Lenain P, Duval C, d’Anjou J, et al. Chromosome abnormalities in peripheral T-cell lymphoma. Cancer Genet Cytogenet. 2000;117:71–9.
Mulloy JC. Peripheral T cell lymphoma: new model + new insight. J Exp Med. 2010;207:911–3.
Streubel B, Vinatzer U, Willheim M, Raderer M, Chott A. Novel t(5;9)(q33;q22) fuses ITK to SYK in unspecified peripheral T-cell lymphoma. Leukemia. 2006;20:313–8.
Papadavid E, Panayiotides I, Dalamaga M, Katoulis A, Economopoulos T, Stavrianeas N. Cutaneous involvement in angioimmunoblastic T-cell lymphoma. Indian J Dermatol. 2010;55(3):279–80.
Xu Y, McKenna RW, Hoang MP, Collins RH, Kroft SH. Composite angioimmunoblastic T-cell lymphoma and diffuse large B-cell lymphoma: a case report and review of the literature. Am J Clin Pathol. 2002;118:848–54.
Thorns C, Bastian B, Pinkel D, et al. Chromosomal aberrations in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma unspecified: a matrix-based CGH approach. Genes Chromosomes Cancer. 2007;46:37.
Chen CY, Yao M, Tang JL, Tsay W, Wang CC, Chou WC, et al. Chromosomal abnormalities of 200 Chinese patients with non-Hodgkin’s lymphoma in Taiwan: with special reference to T-cell lymphoma. Ann Oncol. 2004;15:1091–6.
Piccaluga PP, Gazzola A, Mannu C, Agostinelli C, Bacci F, Sabattini E, et al. Pathobiology of anaplastic large cell lymphoma. Adv Hematol. 2010;1–10.
Kinney MC, Higgins RA, Medina EA. Anaplastic large cell lymphoma: twenty-five years of discovery. Arch Pathol Lab Med. 2011;135(1):19–43.
Perkins SL, Pickring D, Lowe EJ, et al. Childhood anaplastic large cell lymphoma has a high incidence of ALK gene rearrangements as determined by immunohistochemical staining and fluorescent in situ hybridization: a genetic and pathological correlation. Br J Haematol. 2005;131:624.
Drexler HG, Gignac SM, von Wasielewski R, et al. Pathobiology of NMP-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas. Leukemia. 2000;14:1533.
Quintanilla-Martinez L, Pittaluga S, Miething C, et al. NPM-ALK-dependent expression of the transcription factor CCATT/enhancer binding protein β in ALK-positive anaplastic large cell lymphoma. Blood. 2006;108:2029.
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Meloni-Ehrig, A. (2013). The Cytogenetics of Hematologic Neoplasms. In: Gersen, S., Keagle, M. (eds) The Principles of Clinical Cytogenetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1688-4_15
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