Advances in myeloma genetics and prospects for pharmacogenomic testing in multiple myeloma

American Journal of PharmacoGenomics

Volumn 5, Issue 1, 2005, Pages 35-43

  Claudio, Jaime O ^a,b   Stewart, A Keith ^a,b,c  

^a PRINCESS MARGARET HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c McLaughlin Centre for Molecular Medicine   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHOXYESTRADIOL; 3 [4 METHYL 2 (2 OXO 3 INDOLINYLMETHYLIDENYL) 3 PYRROLYL]PROPIONIC ACID; BORTEZOMIB; CYCLIN D1; CYCLIN DEPENDENT KINASE INHIBITOR 1B; CYCLOPHOSPHAMIDE; DEXAMETHASONE; DOXORUBICIN; FIBROBLAST GROWTH FACTOR RECEPTOR 3; FIBROBLAST GROWTH FACTOR RECEPTOR 3 INHIBITOR; GLUTATHIONE TRANSFERASE; HISTONE DEACETYLASE INHIBITOR; K RAS PROTEIN; LENALIDOMIDE; MELPHALAN; ONCOPROTEIN; PD 173074; PROTEIN P53; PROTEIN TYROSINE KINASE INHIBITOR; RECEPTOR BLOCKING AGENT; THALIDOMIDE; THALIDOMIDE DERIVATIVE; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; VINCRISTINE; VORINOSTAT;

CLINICAL TRIAL; DRUG RESPONSE; ENZYME ACTIVITY; GENE EXPRESSION PROFILING; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN GENOME; MULTIPLE MYELOMA; MUTATIONAL ANALYSIS; PATIENT CODING; PHARMACOGENOMICS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; REVIEW; GENETICS; META ANALYSIS; METHODOLOGY; PHARMACOGENETICS;

HUMANS; META-ANALYSIS; MULTIPLE MYELOMA; PHARMACOGENETICS; PROGNOSIS;

EID: 18744361878     PISSN: 11752203     EISSN: None     Source Type: Journal    
DOI: 10.2165/00129785-200505010-00003     Document Type: Review

References (87)

1. Bergsagel PL, Kuehl WM. Critical roles for immunoglobulin translocations and cyclin D dysregulation in multiple myeloma. Immunol Rev 2003; 194: 96-104
2. Hallek M, Bergsagel PL, Anderson KC. Multiple myeloma: increasing evidence for a multistep transformation process. Blood 1998; 91 (1): 3-21
3. Bergsagel PL, Kuehl WM. Chromosome translocations in multiple myeloma. Oncogene 2001; 20 (40): 5611-22
4. Kyle RA, Finkelstein S, Elveback LR, et al. Incidence of monoclonal proteins in a Minnesota community with a cluster of multiple myeloma. Blood 1972; 40(5): 719-24
5. Leech SH, Bryan CF, Elston RC, et al. Genetic studies in multiple myeloma: 1. association with HLA-Cw5. Cancer 1983; 51 (8): 1408-11
6. Lynch HT, Sanger WG, Pirruccello S, et al. Familial multiple myeloma: a family study and review of the literature. J Natl Cancer Inst 2001; 93 (19): 1479-83
7. Grosbois B, Jego P, Attal M, et al. Familial multiple myeloma: report of fifteen families. Br J Haematol 1999; 105 (3): 768-70
8. Sobol H, Vey N, Sauvan R, et al. Re: familial multiple myeloma: a family study and review of the literature. J Natl Cancer Inst 2002; 94 (6): 461-2
9. Dilworth D, Liu L, Stewart AK, et al. Germline CDKN2A mutation implicated in predisposition to multiple myeloma. Blood 2000; 95 (5): 1869-71
10. Davies FE, Dring AM, Li C, et al. Insights into the multistep transformation of MGUS to myeloma using microarray expression analysis. Blood 2003; 102 (13): 4504-11
11. Davies FE, Rollinson SJ, Rawstron AC, et al. High-producer haplotypes of tumor necrosis factor alpha and lymphotoxin alpha are associated with an increased risk of myeloma and have an improved progression-free survival after treatment. J Clin Oncol 2000; 18 (15): 2843-51
12. Dasgupta RK, Adamson PJ, Davies FE, et al. Polymorphic variation in GSTP1 modulates outcome following therapy for multiple myeloma. Blood 2003; 102 (7): 2345-50
13. Neben K, Mytilineos J, Moehler TM, et al. Polymorphisms of the tumor necrosis factor-alpha gene promoter predict for outcome after thalidomide therapy in relapsed and refractory multiple myeloma. Blood 2002; 100 (6): 2263-5
14. Soverini S, Cavo M, Cellini C, et al. Cyclin D1 overexpression is a favorable prognostic variable for newly diagnosed multiple myeloma patients treated with high-dose chemotherapy and single or double autologous transplantation. Blood 2003; 102 (5): 1588-94
15. 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): 64-8
16. Filipits M, Pohl G, Stranzl T, et al. Low p27Kip1 expression is an independent adverse prognostic factor in patients with multiple myeloma. Clin Cancer Res 2003; 9 (2): 820-6
17. Fonseca R, Blood EA, Oken MM, et al. Myeloma and the t (11; 14) (q13; q32); evidence for a biologically defined unique subset of patients. Blood 2002; 99 (10): 3735-41
18. 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): 2562-7
19. 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): 1520-9
20. Liu P, Leong T, Quam L, et al. Activating mutations of N- and K-ras in multiple myeloma show different clinical associations: analysis of the Eastern Cooperative Oncology Group Phase III Trial. Blood 1996; 88 (7): 2699-706
21. Maxwell CA. Rasmussen E, Zhan F, et al. RHAMM expression and isoform balance predict aggressive disease and poor survival in multiple myeloma. Blood 2004; 104(4): 1151-8
22. Moreau P, Facon T, Leleu X, et al. Recurrent 14q32 translocations determine the prognosis of multiple myeloma, especially in patients receiving intensive chemotherapy. Blood 2002; 100 (5): 1579-83
23. Tian E, Zhan F, Walker R, et al. The role of the Wnt-signaling antagonist DKK1 in the development of osteolytic lesions in multiple myeloma. N Engl J Med 2003; 349 (26): 2483-94
24. Worel N, Greinix H, Ackermann J, et al. Deletion of chromosome 13q14 detected by fluorescence in situ hybridization has prognostic impact on survival after high-dose therapy in patients with multiple myeloma. Ann Hematol 2001; 80 (6): 345-8
25. Zojer N, Konigsberg 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 (6): 1925-30
26. Johansson AS, Stenberg O, Widersten M, et al. Structure-activity relationships and thermal stability of human glutathione transferase PI-1 governed by the H-site residue 105. J Mol Biol 1998; 278 (3): 687-98
27. Manning G, Whyte DB, Martinez R, et al. The protein kinase complement of the human genome. Science 2002; 298 (5600): 1912-34
28. Bardelli A, Parsons DW, Silliman N, et al. Mutational analysis of the tyrosine kinome in colorectal cancers [letter]. Science 2003; 300 (5621): 949
29. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417 (6892): 949-54
30. Samuels Y, Wang Z, Bardelli A, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004; 304 (5670): 554
31. Dunn DA. Mining the human "kinome". Drug Discov Today 2002; 7 (22): 1121-3
32. Onwuazor ON, Wen XY, Wang DY, et al. Mutation, SNP, and isoform analysis of fibroblast growth factor receptor 3 (FGFR3) in 150 newly diagnosed multiple myeloma patients. Blood 2003; 102 (2): 772-3
33. Dai H, Holm R, Kristensen GB, et al. Fibroblast growth factor receptor 3 (FGFR3): analyses of the S249C mutation and protein expression in primary cervical carcinomas. Anal Cell Pathol 2001; 23 (2): 45-9
34. Ronchetti D, Bogni S, Finelli P, et al. Characterization of the t (4; 14) (p16.3; q32) in the KMS-18 multiple myeloma cell line. Leukemia 2001; 15 (5): 864-5
35. Avet-Loiseau H, Facon T, Grosbois B, et al. Oncogenesis of multiple myeloma: 14q32 and 13q chromosomal abnormalities are not randomly distributed, but correlate with natural history, immunological features, and clinical presentation. Blood 2002; 99 (6): 2185-91
36. Chesi M, Brents LA, Ely SA, et al. Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma. Blood 2001; 97 (3): 729-36
37. Li Z, Zhu YX, Plowright EE, et al. The myeloma-associated oncogene fibroblast growth factor receptor 3 is transforming in hematopoietic cells. Blood 2001; 97 (8): 2413-9
38. Trudel S, Ely S, Farooqi Y, et al. Inhibition of fibroblast growth factor receptor 3 induces differentiation and apoptosis in t (4; 14) myeloma. Blood 2004; 103 (9): 3521-8
39. Paterson JL, Li Z, Wen XY, et al. Preclinical studies of fibroblast growth factor receptor 3 as a therapeutic target in multiple myeloma. Br J Haematol 2004; 124 (5): 595-603
40. Zhang S, Ramsay ES, Mock BA. Cdkn2a, the cyclin-dependent kinase inhibitor encoding p16INK4a and p19ARF, is a candidate for the plasmacytoma susceptibility locus, Pctr1. Proc Natl Acad Sci U S A 1998; 95 (5): 2429-34
41. Tasaka T, Berenson J, Vescio R, et al. Analysis of the p16INK4A, p15INK4B and p18INK4C genes in multiple myeloma. Br J Haematol 1997; 96 (1): 98-102
42. Mitsiades CS, Mitsiades NS, McMullan CJ, et al. Inhibition of the insulin-like growth factor receptor-1 tyrosine kinase activity as a therapeutic strategy for multiple myeloma, other hematologic malignancies, and solid tumors. Cancer Cell 2004; 5 (3): 221-30
43. Garcia-Echeverria C, Pearson MA, Marti A, et al. In vivo antitumor activity of NVP-AEW541 -A novel, potent, and selective inhibitor of the IGF-IR kinase. Cancer Cell 2004; 5 (3): 231-9
44. Roddam PL, Rollinson S, O'Driscoll M, et al. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. J Med Genet 2002; 39 (12): 900-5
45. Landowski TH, Qu N, Buyuksal I, et al. Mutations in the Fas antigen in patients with multiple myeloma. Blood 1997; 90 (11): 4266-70
46. Ng MH, To KW, Lo KW, et al. Frequent death-associated protein kinase promoter hypermethylation in multiple myeloma. Clin Cancer Res 2001; 7 (6): 1724-9
47. Gonzalez Ordonez AJ, Fernandez Carreira JM, Fernandez Alvarez CR, et al. Normal frequencies of the C677T genotypes on the methylenetetrahydrofolate reductase (MTHFR) gene among lymphoproliferative disorders but not in multiple myeloma. Leuk Lymphoma 2000; 39 (5-6): 607-12
48. Yanamandra K, Bocchini Jr JA, Thurmon TF. Methylenetetrahydrofolate reductase 677CC normal genotype may protect against multiple myeloma. Br J Haematol 2003; 120 (6): 1094-5
49. Gonzalez-Fraile MI, Garcia-Sanz R, Mateos MV, et al. Methylenetetrahydrofolate reductase genotype does not play a role in multiple myeloma pathogenesis. Br J Haematol 2002; 117 (4): 890-2
50. Willems PM, Kuypers AW, Meijerink JP, et al. Sporadic mutations of the p53 gene in multiple myeloma and no evidence for germline mutations in three familial multiple myeloma pedigrees. Leukemia 1993; 7 (7): 986-91
51. Shaughnessy J, Jacobson J, Sawyer J, et al. Continuous absence of metaphase-defined cytogenetic abnormalities, especially of chromosome 13 and hypodiploidy, ensures long-term survival in multiple myeloma treated with Total Therapy I: interpretation in the context of global gene expression. Blood 2003; 101 (10): 3849-56
52. Barlogie Jr B, Shaughnessy JD. Early results of total therapy II in multiple myeloma: implications of cytogenetics and FISH. Int J Hematol 2002; 76 Suppl. 1: 337-9
53. Fonseca R, Harrington D, Oken MM, et al. Biological and prognostic significance of interphase fluorescence in situ hybridization detection of chromosome 13 abnormalities (delta13) in multiple myeloma: an eastern cooperative oncology group study. Cancer Res 2002; 62 (3): 715-20
54. Barlogie B, Shaughnessy J, Tricot G, et al. Treatment of multiple myeloma. Blood 2004; 103 (1): 20-32
55. Shaughnessy J, Rasmussen E, Zhan F, et al. Gene expression profiling can be used to predict EFS in myeloma patients treated with high dose therapy and tandem stem cell transplant [abstract]. Blood 2003; 102: 190a
56. Branca M. Genetics and medicine: putting gene arrays to the test. Science 2003; 300 (5617): 238
57. Barille-Nion S, Barlogie B, Bataille R, et al. Advances in biology and therapy of multiple myeloma. Hematology (Am Soc Hematol Educ Program) 2003; (1): 78
58. Shaughnessy JD, Barlogie B. Interpreting the molecular biology and clinical behavior of multiple myeloma in the context of global gene expression profiling. Immunol Rev 2003; 194: 140-63
59. Hideshima T, Richardson P, Anderson KC. Novel therapeutic approaches for multiple myeloma. Immunol Rev 2003; 194: 164-76
60. Chauhan D, Li G, Auclair D, et al. Identification of genes regulated by 2-methoxy-estradiol (2ME2) in multiple myeloma cells using oligonucleotide arrays. Blood 2003; 101 (9): 3606-14
61. Chauhan D, Auclair D, Robinson EK, et al. Identification of genes regulated by dexamethasone in multiple myeloma cells using oligonucleotide arrays. Oncogene 2002; 21 (9): 1346-58
62. Mitsiades CS, Mitsiades NS, McMullan CJ, et al. Transcriptional signature of histone deacetylase inhibition in multiple myeloma: biological and clinical implications. Proc Natl Acad Sci U S A 2004; 101 (2): 540-5
63. Gong Y, Slee RB, Fukai N, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001; 107 (4): 513-23
64. Willert K, Brown JD, Danenberg E, et al. Wnt proteins are lipid-modified and can act as stem cell growth factors. Nature 2003; 423 (6938): 448-52
65. Reya T, Duncan AW, Ailles L, et al. A role for Wnt signalling in self-renewal of haematopoietic stem cells. Nature 2003; 423 (6938): 409-14
66. Magrangeas F, Nasser V, Avet-Loiseau H, et al. Gene expression profiling of multiple myeloma reveals molecular portraits in relation to the pathogenesis of the disease. Blood 2003; 101 (12): 4998-5006
67. 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): 191-9
68. 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): 4457-63
69. Syrigos KN, Harrington KJ, Karayiannakis AJ, et al. Circulating soluble E-cadherin levels are of prognostic significance in patients with multiple myeloma. Anticancer Res 2004; 24 (3b): 2027-31
70. Tricot G, Barlogie B, Jagannath S, et al. Poor prognosis in multiple myeloma is associated only with partial or complete deletions of chromosome 13 or abnormalities involving 11q and not with other karyotype abnormalities. Blood 1995; 86 (11): 4250-6
71. Facon T, Avet-Loiseau H, Guillerm G, et al. Chromosome 13 abnormalities identified by FISH analysis and serum beta2-microglobulin produce a powerful myeloma staging system for patients receiving high-dose therapy. Blood 2001; 97 (6): 1566-71
72. Fonseca R, Blood E, Rue M, et al. Clinical and biologic implications of recurrent genomic aberrations in myeloma. Blood 2003; 101 (11): 4569-75
73. Hideshima T, Bergsagel PL, Kuehl WM, et al. Advances in biology of multiple myeloma: clinical applications. Blood 2004; 104 (3): 607-18
74. Claudio JO, Masih-Khan E, Tang H, et al. A molecular compendium of genes expressed in multiple myeloma. Blood 2002; 100 (6): 2175-86
75. Robbiani DF, Chesi M, Bergsagel PL. Bone lesions in molecular subtypes of multiple myeloma. N Engl J Med 2004; 351 (2): 197-8
76. Claudio JO, Masih-Khan E, Stewart AK. Insights from the gene expression profiling of multiple myeloma. Curr Hematol Rep 2004; 3(1): 67-73
77. Jenner RG, Maillard K, Cattini N, et al. Kaposi's sarcoma-associated herpesvirus-infected primary effusion lymphoma has a plasma cell gene expression profile. Proc Natl Acad Sci USA 2003; 100 (18): 10399-404
78. Iwakoshi NN, Lee AH, Vallabhajosyula P, et al. Plasma cell differentiation and the unfolded protein response intersect at the transcription factor XBP-1. Nat Immunol 2003; 4 (4): 321-9
79. Kaufman RJ. Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls. Genes Dev 1999; 13(10): 1211-33
80. Gass JN, Gifford NM, Brewer JW. Activation of an unfolded protein response during differentiation of antibody-secreting B cells. J Biol Chem 2002; 277 (50): 49047-54
81. van Anken E, Romijn EP, Maggioni C, et al. Sequential waves of functionally related proteins are expressed when B cells prepare for antibody secretion. Immunity 2003; 18 (2): 243-53
82. Lee AH, Iwakoshi NN, Anderson KC, et al. Proteasome inhibitors disrupt the unfolded protein response in myeloma cells. Proc Natl Acad Sci U S A 2003; 100(17): 9946-51
83. Mitsiades N, Mitsiades CS, Richardson PG, et al. The proteasome inhibitor PS-341 potentiates sensitivity of multiple myeloma cells to conventional chemotherapeutic agents: therapeutic applications. Blood 2003; 101 (6): 2377-80
84. Hideshima T, Mitsiades C, Akiyama M, et al. Molecular mechanisms mediating antimyeloma activity of proteasome inhibitor PS-341. Blood 2003; 101 (4): 1530-4
85. Yang HH, Vescio R, Schenkein D, et al. A prospective, open-label safety and efficacy study of combination treatment with bortezomib (PS-341), velcade and melphalan in patients with relapsed or refractory multiple myeloma. Clin Lymphoma 2003; 4 (2): 119-22
86. Orlowski RZ, Hall M, Voorhees P, et al. Phase I study of the proteosome inhibitor Bortezomib (PS-341), Velcade® in combination with pegylated liposomal doxurobicin (Doxil) in patients with refractory hematologic malignancies [abstract]. Blood 2002; 100: 122a
87. Zangari M, Barlogie B, Prather J. Marked activity also in del 13 multiple myeloma (MM) of PS341 (PS) and subsequent thalidomide (THAL) in a setting of resistance to post-autotransplant salvage therapies [abstract]. Blood 2002; 100: 104a