Abstract
Multiple myeloma is a heterogeneous disease. Its chromosomal abnormalities have been extensively studied with a view to accurate prognostication and personalized therapy. Here, we describe the techniques commonly employed for elucidating chromosomal aberrations, prognostic impact of recurrent chromosomal abnormalities, and recently updated risk stratification systems.
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References
Rajkumar SV, Dimopoulos MA, Palumbo A et al (2014) International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol 15(12):e538–e548. doi:10.1016/S1470-2045(14)70442-5
Smith A, Howell D, Palmore R et al (2011) Incidence of haematological malignancy by sub-type: a report from the Haematological Malignancy Research Network. Br J Cancer 105(11):1684–1692. doi:10.1038/bjc.2011.450
Munshi NC, Anderson KC, Bergsagel PL et al (2011) Consensus recommendations for risk stratification in multiple myeloma: report of the International Myeloma Workshop Consensus Panel 2. Blood 117(18):4696–4700. doi:10.1182/blood-2010-10-300970
Mikhael JR, Dingli D, Roy V et al (2013) Management of newly diagnosed symptomatic multiple myeloma: updated Mayo Stratification of Myeloma and Risk-Adapted Therapy (mSMART) consensus guidelines 2013. Mayo Clin Proc 88(4):360–376. doi:10.1016/j.mayocp.2013.01.019
Palumbo A, Avet-Loiseau H, Olivia S et al (2015) Revised International staging system for multiple myeloma: a report from International Myeloma Working Group. J Clin Oncol 33(26):2863–2869. doi:10.1200/JCO.2015.61.2267
Dewald GW, Kyle RA, Hicks GA et al (1985) The clinical significance of cytogenetic studies in 100 patients with multiple myeloma, plasma cell leukemia, or amyloidosis. Blood 66(2):380–390
Hose D, Rème T, Hielscher T et al (2011) Proliferation is a central independent prognostic factor and target for personalized and risk-adapted treatment in multiple myeloma. Haematologica 96(1):87–95. doi:10.3324/haematol.2010.030296
Pratt G (2002) Molecular aspects of multiple myeloma. Mol Pathol 55(5):273–283
Avet-Loiseau H, Daviet A, Brigaudeau C et al (2001) Cytogenetic, interphase, and multicolor fluorescence in situ hybridization analyses in primary plasma cell leukemia: a study of 40 patients at diagnosis, on behalf of the Intergroupe Francophone du Myélome and the Groupe Français de Cytogénétique Hématologique. Blood 97(3):822–825
Kumar S, Fonseca R, Ketterling RP et al (2012) Trisomies in multiple myeloma: impact on survival in patients with high-risk cytogenetics. Blood 119(9):2100–2105. doi:10.1182/blood-2011-11-390658
International Myeloma Working group (IMWG) (2016) Molecular classification of multiple myeloma. http://myeloma.org. Accessed 4 April 2016
Fonseca R, Barlogie B, Bataille R et al (2004) Genetics and cytogenetics of multiple myeloma: a workshop report. Cancer Res 64(4):1546–1558
Smadja NV, Bastard C, Brigaudeau C et al (2001) Hypodiploidy is a major prognostic factor in multiple myeloma. Blood 98(7):2229–2238
Rajkumar SV (2012) Multiple myeloma: 2012 update on diagnosis, risk-stratification, and management. Am J Hematol 87(1):78–88
Hartmann L, Biggerstaff JS, Chapman DB et al (2011) Detection of genomic abnormalities in multiple myeloma: the application of FISH analysis in combination with various plasma cell enrichment techniques. Am J Clin Pathol 136(5):712–720. doi:10.1309/AJCPF7NFLW8UAJEP
Paiva B, Almeida J, Pérez-Andrés M et al (2010) Utility of flow cytometry immunophenotyping in multiple myeloma and other clonal plasma cell-related disorders. Cytometry B Clin Cytom 78(4):239–252. doi:10.1002/cyto.b.20512
Ross FM, Avet-Loiseau H, Ameya G et al (2012) Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders. Haematologica 97(8):1272–1277
Fonseca R, Bailey RJ, Ahmann GJ et al (2002) Genomic abnormalities in monoclonal gammopathy of undetermined significance. Blood 100(4):1417–1427
Kuehl WM, Bergsagel PL (2002) Multiple myeloma: evolving genetic events and host interactions. Nat Rev Cancer 2(3):175–187
Avet-Loiseau H, Facon T, Grosbois B et al (2002) Oncogenesis of multiple myeloma: 14q32 and 13q chromosomal abnormalities are not randomly distributed, but correlate with natural history, immunological features, and clinical presentation. Blood 99(6):2185–2191
Moreau P, Facon T, Leleu X et al (2002) Recurrent 14q32 translocations determine the prognosis of multiple myeloma, especially in patients receiving intensive chemotherapy. Blood 100(5):1579–1583
Moreau P, Attal M, Garban F et al (2007) Heterogeneity of t(4;14) in multiple myeloma. Long-term follow-up of 100 cases treated with tandem transplantation in IFM99 trials. Leukemia 21(9):2020–2024
Shaughnessy JD Jr, Zhan F, Burington BE et al (2007) A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1. Blood 109(6):2276–2284
Nair B, van Rhee F, Shaughnessy JD Jr et al (2010) Superior results of Total Therapy 3 (2003-33) in gene expression profiling-defined low-risk multiple myeloma confirmed in subsequent trial 2006-66 with VRD maintenance. Blood 115(21):4168–4173. doi:10.1182/blood-2009-11-255620
Fonseca R, Blood E, Rue M et al (2003) Clinical and biologic implications of recurrent genomic aberrations in myeloma. Blood 101(11):4569–4575
Sawyer JR, Lukacs JL, Munshi N et al (1998) Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping. Blood 92(11):4269–4278
Avet-Loiseau H, Leleu X, Roussel M et al (2010) Bortezomib plus dexamethasone induction improves outcome of patients with t(4;14) myeloma but not outcome of patients with del(17p). J Clin Oncol 28(30):4630–4634. doi:10.1200/JCO.2010.28.3945
Avet-Louseau H, Daviet A, Sauner S et al (2000) Chromosome 13 abnormalities in multiple myeloma are mostly monosomy 13. Br J Haematol 111(4):1116–1117
Chiecchio L, Protheroe RK, Ibrahim AH et al (2006) Deletion of chromosome 13 detected by conventional cytogenetics is a critical prognostic factor in myeloma. Leukemia 20(9):1610–1617
Rajan AM, Rajkumar SV (2015) Interpretation of cytogenetic results in multiple myeloma for clinical practice. Blood Cancer J 5(10), e365. doi:10.1038/bcj.2015.92
Hebraud B, Leleu X, Lauwers-Cances V et al (2014) Deletion of the 1p32 region is a major independent prognostic factor in young patients with myeloma: the IFM experience on 1195 patients. Leukemia 28(3):675–679
Jacobson J, Barlogie B, Shaughnessy J et al (2003) MDS-type abnormalities within myeloma signature karyotype (MM-MDS): only 13% 1-year survival despite tandem transplants. Br J Haematol 122(3):430–440
Ola L, Gloria G, Ingemar T et al (2005) Risk of monoclonal gammopathy of undetermined significance (MGUS) and subsequent multiple myeloma among African American and white veterans in the United States. Blood 107(3):904–906
Robert K, Ellen R, Terry T et al (2007) Clinical course and prognosis of smoldering (asymptomatic) multiple myeloma. N Engl J Med 356:2582–2590. doi:10.1056/NEJMoa070389
Rajkumar SV, Gupta V, Fonseca R et al (2013) Impact of primary molecular cytogenetic abnormalities and risk of progression in smoldering multiple myeloma. Leukemia 27(8):1738–1744. doi:10.1038/leu.2013.86
Dimopoulos M, Kyle R, Fermand JP et al (2011) Consensus recommendations for standard investigative workup: report of the International Myeloma Workshop Consensus Panel 3. Blood 117(18):4701–4705. doi:10.1182/blood-2010-10-299529
Chng WJ, Dispenzieri A, Chim CS et al (2014) IMWG consensus on risk stratification in multiple myeloma. Leukemia 28(2):269–277. doi:10.1038/leu.2013.247
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Chan, N.C.N., Chan, N.P.H. (2017). Recurrent Cytogenetic Abnormalities in Multiple Myeloma. In: Wan, T. (eds) Cancer Cytogenetics. Methods in Molecular Biology, vol 1541. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-6703-2_23
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DOI: https://doi.org/10.1007/978-1-4939-6703-2_23
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