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Additional chromosome 1q aberrations and der(16)t(1;16), correlation to the phenotypic expression and clinical behavior of the Ewing family of tumors

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Abstract

The cytogenetic hallmark of the Ewing family of tumors is t(11;22)(q24;q12) in its simple, complex or variant forms and/or its molecular equivalent EWS/FLI, EWS/ERG rearrangement. Additional secondary consistent chromosomal aberrations include the der(16)t(1;16) and, frequently, other chromosome 1q abnormalities leading to 1q overdosage. We studied whether these secondary cytogenetic changes are correlated to clinical features and phenotypic expression which may have a prognostic impact.Successful cytogenetic evaluation was performed in eight patients with a Ewing family tumor. In four of these, in addition to the primary aberration, chromosome 1q overdosage (including two with der(16)t(1;16)) was noted. Out of these four patients, two had metastatic disease at the time of evaluation, while in the other four, disease was localized. Morphologically, the tumors with the additional 1q aberration, revealed the pPNET subtype more frequently than the typical Ewing. They also expressed a higher degree of neural differentiation by neural marker immunocytochemistry, in comparison to tumors without the 1q aberration.Determination of the prognostic significance of this finding requires a longer follow-up with a larger group of patients.

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References

  1. Horowitz ME, Malawer MM, DeLaney TF, Tsorkos MG: Ewing's sarcoma family of tumors: Ewing's sarcoma of bone and soft tissue and the peripheral primitive neuroectodermal tumors. In: Pizzo PA, Poplack DG (eds) Principles and Practice of Pediatric Oncology, 2nd edn. JB Lippincott Co, Philadelphia, 1993, pp 795–821

    Google Scholar 

  2. Triche TJ: Pathology of pediatric malignancies. In: Pizzo PA, Poplack DG (eds) Principles and Practice of Pediatric Oncology, 2nd edn. JB Lippincott Co, Philadelphia, 1993, pp 115–152

    Google Scholar 

  3. Editorial. Ewing's sarcoma and its congeners: an interim appraisal. Lancet 339: 99–100, 1992

  4. Terrier Ph, Henry-Amar M, Triche TJ, Horowitz ME, Terrier-Lacombe MJ, Miser JS, Kinsella TJ, Contesso G, Llombart-Bosch A: Is neuro-ectodermal differentiation of Ewing's sarcoma of bone associated with an unfavourable prognosis? Eur J Cancer 31A: 307–314, 1995

    Google Scholar 

  5. Schmidt D, Herrmann C, Jürgens Hm, Harms D: Malignant peripheral neuroectodermal tumor and its necessary distinction from Ewing's sarcoma. Cancer 68: 2251–2259, 1991

    Google Scholar 

  6. Hartman KR, Triche TJ, Kinsella TJ, Miser JS: Prognostic value of histopathology in Ewing's sarcoma. Cancer 67: 163–171, 1991

    Google Scholar 

  7. Marina NM, Etcubanas E, Parham DM, Bowman LC, Green A: Peripheral primitive neuroectodermal tumor (peripheral neuroepithelioma) in children. Cancer 64: 1952–1960, 1989

    Google Scholar 

  8. Kovar H, Dworzak M, Strehl S, Schnell E, Ambros IM, Ambros PF, Gadner H: Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. Oncogene 5: 1067–1070, 1990

    Google Scholar 

  9. Ambros IM, Ambros PF, Strehl S, Kovar H, Gadner H, Salzer-Kuntschik M: MIC2 is a specific marker for Ewing's sarcoma and peripheral primitive neuroectodermal tumors. Cancer 67: 1886–1893, 1991

    Google Scholar 

  10. Turc-Carel C, Aurias A, Mugneret F, Lizard S, Sidaner I, Volk C, Thiery JP, Olschwang S, Philip I, Berger MP, Philip T, Lenoir GM, Mazabraud A: Chromosomes in Ewing's sarcoma. I. An evaluation of 85 cases and remarkable consistency of t(121;22)(q24;q12). Cancer Genet Cytogenet 32: 229–238, 1988

    Google Scholar 

  11. Douglass EC, Valentine M, Green AA, Hayes FA, Thompson EI: t(11;22) and other chromosomal rearrangements in Ewing's sarcoma. JNCI 77: 1211–1215, 1986

    Google Scholar 

  12. Whang-Peng J, Triche TJ, Knutsen T, Miser J, Douglass EC, Israel MA: Chromosome translocation in peripheral neuroepithelioma. N Engl J Med 311: 584–585, 1984

    Google Scholar 

  13. Ladanyi M, Heinemann FS, Huvos AG, Hanumantha Rao P, Chen Q, Jhanwar SC: Neural differentiation in small round cell tumors of bone and soft tissue with the translocation t(11;22)(q24;q12): An immunohistochemical study of 11 cases. Hum Pathol 21: 12245–1251, 1990

    Google Scholar 

  14. Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G, Aurias A, Thomas G: Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 359: 163–165, 1992

    Google Scholar 

  15. Zucman J, Melot T, Desmaze C, Ghysdael J, Plougastel B, Peter M, Zucker JM, Triche TJ, Sheer D, Turc-Carel C, Ambros P, Combaret V, Lenoir G, Aurias A, Thomas G, Delattre O: Combinatorial generation of variable fusion proteins in the Ewing family of tumors. EMBO J 12: 4481–4487, 1993

    Google Scholar 

  16. Delattre O, Zucman J, Melot T, Garau XS, Zucker JM, Lenoir GM, Ambros PF, Sheer D, Turc-Carel C, Triche TJ, Aurias A, Thomas G: The Ewing family of tumors — a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med 331: 294–299, 1994

    Google Scholar 

  17. Zoubek A, Pfleiderer C, Salzer-Kuntschik M, Amann G, Windhager R, Fink FM, Koscielniak E, Delattre O, Strehl S, Ambros PF, Gadner H, Kovar H: Variability of EWS chimaeric transcripts in Ewing tumours: a comparison of clinical and molecular data. Br J Cancer 70: 908–913, 1994

    Google Scholar 

  18. Sorensen PHB, Lessmick SL, Lopez-Terrada D, Liu XF, Triche TJ, Denny CT: A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Nat Genet 6: 146–151, 1994

    Google Scholar 

  19. Stark B, Zoubek A, Hattinger C, Jeison M, Gobuzov R, Mor C, Cohen I, Yaniv I, Ambros PF, Kovar H, Zaizov R: Metastatic extraosseous Ewing tumor: Association of the additional translocation der(16)t(1;16) with the variant EWS/ ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22. Submitted for publication. Cancer Cenet Gytogenet 1996

  20. Mugneret F, Lizard S, Aurias A, Turc-Carel C: Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy-8 and der(16)t(1;16). Cancer Genet Cytogenet 32: 239–245, 1988

    Google Scholar 

  21. Douglass EC, Rowe ST, Valentine M, Parham D, Meyer WH, Thompson EI: A second nonrandom translocation, der(16)t (1;16)(q21;q13), in Ewing sarcoma and peripheral neuroectodermal tumor. Cytogenet Cell Genet 53: 87–90, 1990

    Google Scholar 

  22. Prieto F, Badia L, Montalar J, Massuti B: Translocation (11;22) in Ewing's sarcoma. Cancer Genet Cytogenet 17: 87–89, 1985

    Google Scholar 

  23. Workman ML, Soukup SW, Neely JE, Whitsett J, Ballar E, Lampkin B: Biologic characteristics of four Ewing's sarcomas. Cancer Genet Cytogenet 15: 215–225, 1985

    Google Scholar 

  24. Whang-Peng J, Triche TJ, Knutsen T, Miser J, Kao-Shan S, Tsai S, Israel MA: Cytogenetic characterization of selected small round cell tumors of childhood. Cancer Genet Cytogenet 21: 185–208, 1986

    Google Scholar 

  25. Cervantes F, Prieto F, Badia L, Orts A: Trisomy of the long arm of chromosome 1 in patients with hematologic malignancies and solid tumors: Report of six cases. Cancer Genet Cytogenet 31: 165–170, 1988

    Google Scholar 

  26. Giovannini M, Selleri L, Biegel JA, Scotlandi K, Emanuel BS, Evans GA: Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors. J Clin Invest 90: 1911–1918, 1992

    Google Scholar 

  27. Squire J, Zielenska M, Thorner P, Tennyson S, Weitzman S, Mohan Pai K, Yeger H, Ng Y-K, Weksberg R: Variant translocations of chromosome 22 in Ewing's sarcoma. Genes Chrom Cancer 8: 190–194, 1993

    Google Scholar 

  28. Tarkkanen M, Kaipainen A, Karaharju E, Böhling, Szymanska J, Helioö, Kivioja A, Elomaa I, Knuutila S: Cytogenetic study of 249 consecutive patients examined for a bone tumor. Cancer Genet Cytogenet 68: 1–21, 1993

    Google Scholar 

  29. Fisher R, Kaste SC, Parham DM, Shapiro DN, Pappo AS: Ewing's sarcoma as a second malignant neoplasm in a child previously treated for Wilms' tumor. J Pediatr Hematol/Oncol 17: 76–80, 1995

    Google Scholar 

  30. Hindkjaer J, Hammoudah SAFM, Bendix Hansen K, Jensen PD, Koch J, Pedersen B: Translocation (1;16) identified by chromosome painting, and PRimed IN Situ-Labeling (PRINS). Report of two cases and review of the cytogenetic literature. Cancer Genet Cytogenet 79: 15–20, 1995

    Google Scholar 

  31. Hattinger CM, Ambros IM, Bauer S, Zoubeck A, Stark B, Gadner H, Ambros PF: Demonstration of the translocation der(16)t(1;16)(q12;11.2) in interphase nuclei of Ewing tumors: can it serve as a prognostic marker. (Abstract) Biochemistry of Neuroectodermal Tumors, 3rd Workshop, Istituto Dermopatico dell'Immacolata — IRCCS, Rome 12–14, June 1995. Abstract 13, p 38

  32. Stark B, Jeison M, Shohat M, Goshen Y, Vogel R, Cohen IJ, Yaniv I, Kaplinsky C, Zaizov R: Involvement of 11p15 and 3q21q26 in therapy-related myeloid leukemia (t-ML) in children. Cancer Genet Cytogenet 75: 11–22, 1994

    Google Scholar 

  33. ISCN (1991): Guidelines for cancer cytogenetics, supplement to an International system for human cytogenetic nomenclature, F. Mitelman (ed); S. Karger, Basel, 1991

    Google Scholar 

  34. Douglass EC, Green AA, Hayes FA, Etcubanas E, Horowitz M, Wilimas JA: Chromosome 1 abnormalities: A common feature of pediatric solid tumors. JNCI 75: 51–54, 1985

    Google Scholar 

  35. Atkin NB: Chromosome 1 aberrations in cancer. Cancer Genet Cytogenet 21: 279–285, 1986

    Google Scholar 

  36. Johansson B, Mertens F, Mitelman F: Secondary chromosomal abnormalities in acute leukemias. Leukemia 8: 953–962, 1994

    Google Scholar 

  37. Slater RM, Mannens MMAM: Cytogenetics and molecular genetics of Wilms' tumor of childhood. Cancer Genet Cytogenet 61: 111–121, 1992

    Google Scholar 

  38. Grundy PE, Telzerow PE, Breslow N, Moksness J, Huff V, Paterson MC: Loss of heterozygosity for chromosomes 16q and 1p in Wilms' tumors predicts an adverse outcome. Cancer Res 54: 2331–2333, 1994

    Google Scholar 

  39. Squire J, Gallie BL, Phillips RA: A detailed analysis of chromosomal changes in heritable and non-heritable retinoblastoma. Hum Genet 70: 291–301, 1985

    Google Scholar 

  40. Dutrillaux B, Gerbault-Seureau M, Zafrani B: Characterization of chromosomal anomalies in human breast cancer. A comparison of 30 paradiploid cases with few chromosome changes. Cancer Genet Cytogenet 49: 203–2117, 1990

    Google Scholar 

  41. Lindblom A, Rotstein S, Skoog L, Nordenskjoöld, Larsson C: Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases. Cancer Res 53: 3707–3711, 1993

    Google Scholar 

  42. Pandis N, Heim S, Bardi G, Idvall I, Mandahl N, Mitelman F: Whole-arm t(1;16) and i(1q) as sole anomalies identify gain of 1q as a primary chromosomal abnormality in breast cancer. Genes Chrom Cancer 5: 235–238, 1992

    Google Scholar 

  43. Pandis N, Jin Y, Gorunova L, Petersson C, Bardi G, Idvall I, Johansson B, Ingvar C, Mandahl N, Mitelman F, Heim S: Chromosome analysis of 97 primary breast carcinomas: Identification of eight karyotypic subgroups. Genes Chromsom Cancer 12: 173–185, 1995

    Google Scholar 

  44. Mugneret F, Sidaner I, Favre B, Manone L, Maynadieé, Gaillot D, Solary E: Der(16)t(1;16)(q10;p10) in multiple myeloma: A new non-random abnormality that is frequently associated with Burkitt's-type translocation. Leukemia 9: 277–281, 1995

    Google Scholar 

  45. Almeida A, Kokalj-Vokac N, Lefrancois D, Viegas-Pequignot E, Jeanpierre M, Dutrillaux B, Malfoy B: Hypomethylation of classical satellite DNA and chromosome instability in lymphoblastoid cell lines. Hum Genet 91: 538–546, 1993

    Google Scholar 

  46. Ghose T, Lee CLY, Fernandez LA, Lee SHS, Raman R, Colp P: Role of 1q trisomy in tumorigenicity, growth, and metastasis of human leukemic B-cell clones in nude mice. Cancer Res 50: 3737–3742, 1990

    Google Scholar 

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Authors and Affiliations

  1. Department of Pediatric Hematology-Oncology, Israel

    Batia Stark, Ian J. Cohen, Yaacov Goshen, Jerry Stein, Salvi Fisher, Shifra Ash & Itzhak Yaniv

  2. Laboratory of Cancer Cytogentics, Israel

    Marta Jeison, Rima Gobuzov & Rina Zaizov

  3. Schneider Children's Medical Center of Israel, Institute of Pathology, Beilinson Medical Campus, Petah Tiqva

    Celia Mor

  4. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Celia Mor

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  1. Batia Stark
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Stark, B., Mor, C., Jeison, M. et al. Additional chromosome 1q aberrations and der(16)t(1;16), correlation to the phenotypic expression and clinical behavior of the Ewing family of tumors. J Neurooncol 31, 03–08 (1997). https://doi.org/10.1023/A:1005731009962

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