Genetics of multiple myeloma: Another heterogeneity level?

Blood

Volumn 125, Issue 12, 2015, Pages 1870-1876

  Corre, Jill ^a,b   Munshi, Nikhil ^c,d   Avet Loiseau, Hervé ^a,b  

^a TOULOUSE UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c HARVARD MEDICAL SCHOOL   (United States)

^d VA BOSTON HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN D; CYCLIN DEPENDENT KINASE INHIBITOR 2C; DEAMINASE; DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; MYC PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 3; WNT1 PROTEIN;

CARCINOGENESIS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; MICROARRAY ANALYSIS; MULTIPLE MYELOMA; PLASMA CELL; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC HYPERMUTATION; UPREGULATION; AGED; B LYMPHOCYTE; BIOLOGICAL MODEL; CELL DIFFERENTIATION; CELL TRANSFORMATION; CYTOLOGY; DISEASE COURSE; DNA MICROARRAY; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PROGNOSIS;

AGED; B-LYMPHOCYTES; CARCINOGENESIS; CELL DIFFERENTIATION; CELL TRANSFORMATION, NEOPLASTIC; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; HUMANS; MODELS, BIOLOGICAL; MULTIPLE MYELOMA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PLASMA CELLS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS;

EID: 84925357072     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-10-567370     Document Type: Review

References (63)

1. Landgren O, Kyle RA, Pfeiffer RM, et al. Monoclonal gammopathy of undetermined significance (MGUS) consistently precedes multiple myeloma: a prospective study. Blood. 2009;113(22):5412-5417.
2. Weiss BM, Abadie J, Verma P, Howard RS, Kuehl WM. A monoclonal gammopathy precedes multiple myeloma in most patients. Blood. 2009;113(22):5418-5422.
3. Kuehl WM, Bergsagel PL. Early genetic events provide the basis for a clinical classification of multiple myeloma. Hematology Am Soc Hematol Educ Program. 2005;2005(1):346-352.
4. Walker BA, Wardell CP, Johnson DC, et al. Characterization of IGH locus breakpoints in multiple myeloma indicates a subset of translocations appear to occur in pregerminal center B cells. Blood. 2013;121(17):3413-3419.
5. Martinez-Lopez J, Fulciniti M, Barrio S, et al. Deep sequencing reveals oligoclonality at the immunoglobulin locus in multiple myeloma patients [abstract]. Blood. 2013;122(21). Abstract 401.
6. Bergsagel PL, Kuehl WM. Molecular pathogenesis and a consequent classification of multiple myeloma. J Clin Oncol. 2005;23(26):6333-6338.
7. Dewald GW, Kyle RA, Hicks GA, Greipp PR. The clinical significance of cytogenetic studies in 100 patients with multiple myeloma, plasma cell leukemia, or amyloidosis. Blood. 1985;66(2):380-390.
8. Sawyer JR, Waldron JA, Jagannath S, Barlogie B. Cytogenetic findings in 200 patients with multiple myeloma. Cancer Genet Cytogenet. 1995;82(1):41-49.
9. Laï JL, Zandecki M, Mary JY, et al. Improved cytogenetics in multiple myeloma: a study of 151 patients including 117 patients at diagnosis. Blood. 1995;85(9):2490-2497.
10. Calasanz MJ, Cigudosa JC, Odero MD, et al. Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations. Genes Chromosomes Cancer. 1997;18(2):84-93.
11. Smadja NV, Bastard C, Brigaudeau C, Leroux D, Fruchart C; Groupe Franc¸ais de Cytogénétique Hématologique. Hypodiploidy is a major prognostic factor in multiple myeloma. Blood. 2001;98(7):2229-2238.
12. Dastugue N, Suciu S, Plat G, et al. Hyperdiploidy with 58-66 chromosomes in childhood B-acute lymphoblastic leukemia is highly curable: 58951 CLG-EORTC results. Blood. 2013;121(13):2415-2423.
13. Bergsagel PL, Chesi M, Nardini E, Brents LA, Kirby SL, Kuehl WM. Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma. Proc Natl Acad Sci USA. 1996;93(24):13931-13936.
14. Nishida K, Tamura A, Nakazawa N, et al. The Ig heavy chain gene is frequently involved in chromosomal translocations in multiple myeloma and plasma cell leukemia as detected by in situ hybridization. Blood. 1997;90(2):526-534.
15. Avet-Loiseau H, Li JY, Facon T, et al. High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies. Cancer Res. 1998;58(24):5640-5645.
16. Fonseca R, Debes-Marun CS, Picken EB, et al. The recurrent IgH translocations are highly associated with nonhyperdiploid variant multiple myeloma. Blood. 2003;102(7):2562-2567.
17. Chesi M, Bergsagel PL, Brents LA, Smith CM, Gerhard DS, Kuehl WM. Dysregulation of cyclin D1 by translocation into an IgH gamma switch region in two multiple myeloma cell lines. Blood. 1996;88(2):674-681.
18. Chesi M, Nardini E, Brents LA, et al. Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nat Genet. 1997;16(3):260-264.
19. Chesi M, Nardini E, Lim RSC, Smith KD, Kuehl WM, Bergsagel PL. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood. 1998;92(9):3025-3034.
20. Santra M, Zhan F, Tian E, Barlogie B, Shaughnessy J Jr. A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. Blood. 2003;101(6):2374-2376.
21. 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(4):1520-1529.
22. Hebraud B, Magrangeas F, Cleynen A, et al. Role of additional chromosomal changes in the prognostic value of t(4;14) and del(17p) in multiple myeloma: the IFM experience. Blood. In press.
23. Martinez-Garcia E, Popovic R, Min DJ, et al. The MMSET histone methyl transferase switches global histone methylation and alters gene expression in t(4;14) multiple myeloma cells. Blood. 2011;117(1):211-220.
24. Chesi M, Bergsagel PL, Shonukan OO, et al. Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma. Blood. 1998;91(12):4457-4463.
25. Hurt EM, Wiestner A, Rosenwald A, et al. Overexpression of c-maf is a frequent oncogenic event in multiple myeloma that promotes proliferation and pathological interactions with bone marrow stroma. Cancer Cell. 2004;5(2):191-199.
26. Hanamura I, Iida S, Akano Y, et al. Ectopic expression of MAFB gene in human myeloma cells carrying (14;20)(q32;q11) chromosomal translocations. Jpn J Cancer Res. 2001;92(6):638-644.
27. Bergsagel PL, Kuehl WM, Zhan F, Sawyer J, Barlogie B, Shaughnessy J Jr. Cyclin D dysregulation: an early and unifying pathogenic event in multiple myeloma. Blood. 2005;106(1):296-303.
28. Avet-Loiseau H, Attal M, Moreau P, et al. Genetic abnormalities and survival in multiple myeloma: the experience of the Intergroupe Francophone du Myélome. Blood. 2007;109(8):3489-3495.
29. Hanamura I, Stewart JP, Huang Y, et al. Frequent gain of chromosome band 1q21 in plasma-cell dyscrasias detected by fluorescence in situ hybridization: incidence increases from MGUS to relapsed myeloma and is related to prognosis and disease progression following tandem stem-cell transplantation. Blood. 2006;108(5):1724-1732.
30. Avet-Loiseau H, Li C, Magrangeas F, et al. Prognostic significance of copy-number alterations in multiple myeloma. J Clin Oncol. 2009;27(27):4585-4590.
31. Annunziata CM, Davis RE, Demchenko Y, et al. Frequent engagement of the classical and alternative NF-kappaB pathways by diverse genetic abnormalities in multiple myeloma. Cancer Cell. 2007;12(2):115-130.
32. Keats JJ, Fonseca R, Chesi M, et al. Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. Cancer Cell. 2007;12(2):131-144.
33. Walker BA, Leone PE, Jenner MW, et al. Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma. Blood. 2006;108(5):1733-1743.
34. Affer M, Chesi M, Chen WD, et al. Promiscuous MYC locus rearrangements hijack enhancers but mostly super-enhancers to dysregulate MYC expression in multiple myeloma. Leukemia. 2014;28(8):1725-1735.
35. Magrangeas F, Avet-Loiseau H, Gouraud W, et al. Minor clone provides a reservoir for relapse in multiple myeloma. Leukemia. 2013;27(2):473-481.
36. Keats JJ, Chesi M, Egan JB, et al. Clonal competition with alternating dominance in multiple myeloma. Blood. 2012;120(5):1067-1076.
37. Egan JB, Shi CX, Tembe W, et al. Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides. Blood. 2012;120(5):1060-1066.
38. Hébraud B, Caillot D, Corre J, et al. The translocation t(4;14) can be present only in minor subclones in multiple myeloma. Clin Cancer Res. 2013;19(17):4634-4637.
39. Alizadeh AA, Eisen MB, Davis RE, et al. Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature. 2000;403(6769):503-511.
40. Abramson JS, Shipp MA. Advances in the biology and therapy of diffuse large B-cell lymphoma: moving toward a molecularly targeted approach. Blood. 2005;106(4):1164-1174.
41. Zhan F, Hardin J, Kordsmeier B, et al. Global gene expression profiling of multiple myeloma, monoclonal gammopathy of undetermined significance, and normal bone marrow plasma cells. Blood. 2002;99(5):1745-1757.
42. Zhan F, Huang Y, Colla S, et al. The molecular classification of multiple myeloma. Blood. 2006;108(6):2020-2028.
43. Broyl A, Hose D, Lokhorst H, et al. Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients. Blood. 2010;116(14):2543-2553.
44. Amin SB, Yip WK, Minvielle S, et al. Gene expression profile alone is inadequate in predicting complete response in multiple myeloma. Leukemia. 2014;28(11):2229-2234.
45. Carrasco DR, Tonon G, Huang Y, et al. High-resolution genomic profiles define distinct clinico-pathogenetic subgroups of multiple myeloma patients. Cancer Cell. 2006;9(4):313-325.
46. Treon SP, Xu L, Yang G, et al. MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. N Engl J Med. 2012;367(9):826-833.
47. Tiacci E, Trifonov V, Schiavoni G, et al. BRAF mutations in hairy-cell leukemia. N Engl J Med. 2011;364(24):2305-2315.
48. Chapman MA, Lawrence MS, Keats JJ, et al. Initial genome sequencing and analysis of multiple myeloma. Nature. 2011;471(7339):467-472.
49. Bolli N, Avet-Loiseau H, Wedge DC, et al. Heterogeneity of genomic evolution and mutational profiles in multiple myeloma. Nat Commun. 2014;5:2997.
50. Lohr JG, Stojanov P, Carter SL, et al Multiple Myeloma Research Consortium. Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy. Cancer Cell. 2014;25(1):91-101.
51. Andrulis M, Lehners N, Capper D, et al. Targeting the BRAF V600E mutation in multiple myeloma. Cancer Discov. 2013;3(8):862-869.
52. Rashid NU, Sperling AS, Bolli N, et al. Differential and limited expression of mutant alleles in multiple myeloma. Blood. 2014;124(20):3110-3117.
53. Shammas MA, Shmookler Reis RJ, Koley H, Batchu RB, Li C, Munshi NC. Dysfunctional homologous recombination mediates genomic instability and progression in myeloma. Blood. 2009;113(10):2290-2297.
54. Chang H, Sloan S, Li D, et al. The t(4;14) is associated with poor prognosis in myeloma patients undergoing autologous stem cell transplant. Br J Haematol. 2004;125(1):64-68.
55. Gutiérrez NC, Castellanos MV, Martín ML, et al GEM/PETHEMA Spanish Group. Prognostic and biological implications of genetic abnormalities in multiple myeloma undergoing autologous stem cell transplantation: t(4;14) is the most relevant adverse prognostic factor, whereas RB deletion as a unique abnormality is not associated with adverse prognosis. Leukemia. 2007;21(1):143-150.
56. 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(8):2837-2840.
57. Moreau P, Attal M, Garban F, et al SAKK; IFM Group. Heterogeneity of t(4;14) in multiple myeloma. Long-term follow-up of 100 cases treated with tandem transplantation in IFM99 trials. Leukemia. 2007;21(9):2020-2024.
58. Fonseca R, Blood E, Rue M, et al. Clinical and biologic implications of recurrent genomic aberrations in myeloma. Blood. 2003;101(11):4569-4575.
59. Hebraud B, Leleu X, Lauwers-Cances V, et al. Deletion of the 1p32 region is a major independent prognostic factor in young patients with myeloma: the IFM experience on 1195 patients. Leukemia. 2014;28(3):675-679.
60. Lodé L, Eveillard M, Trichet V, et al. Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma. Haematologica. 2010;95(11):1973-1976.
61. Fonseca R, Van Wier SA, Chng WJ, et al. Prognostic value of chromosome 1q21 gain by fluorescent in situ hybridization and increase CKS1B expression in myeloma. Leukemia. 2006;20(11):2034-2040.
62. Avet-Loiseau H, Attal M, Campion L, et al. Long-term analysis of the IFM 99 trials for myeloma: cytogenetic abnormalities [t(4;14), del(17p), 1q gains] play a major role in defining long-term survival. J Clin Oncol. 2012;30(16):1949-1952.
63. Decaux O, Lodé L, Magrangeas F, et al Intergroupe Francophone du Myélome. Prediction of survival in multiple myeloma based on gene-expression profiles revealed cell cycle and chromosomal instability signatures in high-risk patients and hyperdiploid signatures in low-risk patients: a study of the Intergroupe Francophone du Myélome. J Clin Oncol. 2008;26(29):4798-4805.