Abstract
This chapter covers molecular methods and molecular pathology of hematolymphoid neoplasms. In the methodology portion, the basic technical steps, benefits, and limitations of commonly used diagnostic assays are discussed along with representative examples in their clinical application. In the molecular pathology portion, common cytogenetic and molecular genetic abnormalities and their diagnostic and prognostic significances are summarized for major hematolymphoid neoplasms. Rational use of cytogenetic and molecular markers in diagnostic anatomic pathology is discussed.
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Arber DA. Molecular diagnostic approach to non-Hodgkin’s lymphoma. J Mol Diagn. 2000;2:178–90.
Bergsagel PL, Chesi MV. Molecular classification and risk stratification of myeloma. Hematol Oncol. 2013;31 Suppl 1:38–41.
Bernard PS, Wittwer CT. Real-time PCR technology for cancer diagnostics. Clin Chem. 2002;48:1178–85.
Bäsecke J, Griesinger F, Trümper L, et al. Leukemia- and lymphoma-associated genetic aberrations in healthy individuals. Ann Hematol. 2002;81:64–75.
Espinet B, Bellosillo B, Melero C, et al. FISH is better than BIOMED-2 PCR to detect IgH/BCL2 translocation in follicular lymphoma at diagnosis using paraffin-embedded tissue sections. Leuk Res. 2008;32:737–42.
Hayes J, Peruzzi PP, Lawler S. MicroRNAs in cancer: biomarkers, functions and therapy. Trends Mol Med. 2014;20:460–9.
Jennings L, Van Deerlin VM, Gulley ML. College of American Pathologists Molecular Pathology Resource Committee. Recommended principles and practices for validating clinical molecular pathology tests. Arch Pathol Lab Med. 2009;133:743–55.
Langerak AW, Groenen PJ, Brüggemann M, et al. EuroClonality/BIOMED-2 guidelines for interpretation and reporting of Ig/TCR clonality testing in suspected lymphoproliferations. Leukemia. 2012;26:2159–71.
Luu MH, Press RD. BCR-ABL PCR testing in chronic myelogenous leukemia: molecular diagnosis for targeted cancer therapy and monitoring. Expert Rev Mol Diagn. 2013;13:749–62.
Mullighan CG. Genome sequencing of lymphoid malignancies. Blood. 2013;122:3899–907.
Nybakken GE, Bagg A. The genetic basis and expanding role of molecular analysis in the diagnosis, prognosis, and therapeutic design for myelodysplastic syndromes. J Mol Diagn. 2014;16:145–58.
Mardis ER. Next-generation sequencing platforms. Annu Rev Anal Chem. 2013;6:287–303.
Mullighan CG. The molecular genetic makeup of acute lymphoblastic leukemia. Hematology Am Soc Hematol Educ Program. 2012;2012:389–96.
Ramchandren R, Jazaerly T, Gabali AM. Molecular diagnosis of hematopoietic neoplasms. Clin Lab Med. 2013;33:817–33.
Reed GH, Kent JO, Wittwer CT. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics. 2007;8:597–608.
Reichard KK, Hanson CA. Hematological diseases: prototypical conditions requiring the diagnostic and prognostic use of molecular data. Semin Diagn Pathol. 2013;30:382–92.
Swerdlow SH, Campo E, Harris NL, et al., editors. World Health Organization classification of tumours of hematopoietic and lymphoid tissues. 4th ed. Lyon: IARC; 2008.
Tefferi A, Thiele J, Vannucchi AM, Barbui T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia. 2014;28:1407–13.
Vladareanu AM, Müller-Tidow C, Bumbea H, Radesi S. Molecular markers guide diagnosis and treatment in Philadelphia chromosome-negative myeloproliferative disorders (Review). Oncol Rep. 2010;23:595–604.
Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci U S A. 1999;96:9236–41.
Wan TS. Cancer cytogenetics: methodology revisited. Ann Lab Med. 2014;34:413–25.
Wertheim GB, Hexner E, Bagg A. Molecular-based classification of acute myeloid leukemia and its role in directing rational therapy: personalized medicine for profoundly promiscuous proliferations. Mol Diagn Ther. 2012;16:357–69.
Yang J, Schiffer CA. Genetic biomarkers in acute myeloid leukemia: will the promise of improving treatment outcomes be realized? Expert Rev Hematol. 2012;5:395–407.
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Huang, J., Chen, N., Press, R.D. (2016). Molecular Methodologies and Molecular Pathology of Hematolymphoid Neoplasms. In: Cheng, L., Bostwick, D. (eds) Essentials of Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-23380-2_11
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DOI: https://doi.org/10.1007/978-3-319-23380-2_11
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-23379-6
Online ISBN: 978-3-319-23380-2
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