The prognostic significance of cytogenetics and molecular profiling in multiple myeloma

Cancer Genetics - Tập 204 - Trang 3-12 - 2011
Jeffrey R. Sawyer1
1Department of Pathology and Myeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR, USA

Tài liệu tham khảo

Kuehl, 2002, Multiple myeloma: evolving genetic events and host interactions, Nat Rev Cancer, 2, 175, 10.1038/nrc746 Raab, 2009, Multiple Myeloma, Lancet, 374, 324, 10.1016/S0140-6736(09)60221-X Barlogie, 2005, Plasma cell myeloma, 1501 DeWald, 1985, The clinical significance of cytogenetic studies in 100 patients with multiple myeloma, plasma cell leukemia, or amyloidosis, Blood, 66, 380, 10.1182/blood.V66.2.380.380 Sawyer, 1995, Cytogenetic findings in 200 patients with multiple myeloma, Cancer Genet Cytogenet, 82, 41, 10.1016/0165-4608(94)00284-I Lai, 1995, Improved cytogenetics in multiple myeloma: a study of 151 patients including 117 patients at diagnosis, Blood, 85, 2490, 10.1182/blood.V85.9.2490.bloodjournal8592490 Smadja, 1995, Cytogenetic study in multiple myeloma at diagnosis: comparison of two techniques, Br J Haematol, 90, 619, 10.1111/j.1365-2141.1995.tb05593.x Calasanz, 1997, Cytogenetic analysis of 280 patients with multiple myeloma and related disorders; primary breakpoints and clinical correlations, Genes Chrom Cancer, 18, 84, 10.1002/(SICI)1098-2264(199702)18:2<84::AID-GCC2>3.0.CO;2-X Seong, 1998, Prognostic value of cytogenetics in multiple myeloma, Br J Heamtol, 101, 189, 10.1046/j.1365-2141.1998.00657.x Rajkumar, 1999, Cytogenetic abnormalities correlate with the plasma cell labeling index and extent of bone marrow involvement in myeloma, Cancer Genet Cytogenet, 113, 73, 10.1016/S0165-4608(99)00009-6 Zhan, 2006, The role of cytogenetics in myeloma, Leukemia, 20, 1484, 10.1038/sj.leu.2404330 Bergsagel, 2001, Chromosome translocations in multiple myeloma, Oncogene, 20, 5611, 10.1038/sj.onc.1204641 Gabrea, 2008, Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and non-hyperdiploid myeloma tumors, Genes Chromosomes Cancer, 47, 573, 10.1002/gcc.20563 Dao, 1994, Deletion of retinoblastoma gene in multiple myeloma, Leukemia, 8, 1280 Drach, 1995, Interphase fluorescence in situ hybridization identifies chromosome abnormalities in plasma cells from patients with monoclonal gammopathy of undetermined significance, Blood, 86, 3915, 10.1182/blood.V86.10.3915.bloodjournal86103915 Drach, 1995, Multiple myeloma: high incidence of chromosomal aneuploidy as detected by interphase fluorescence in situ hybridization, Cancer Res, 55, 3854 Zandecki, 1997, Several cytogenetic subclones may be identified with plasma cells from patients with monoclonal gammopathy of undetermined significance, both at diagnosis and during the indolent course of this condition, Blood, 90, 3682, 10.1182/blood.V90.9.3682 Rao, 1998, Karyotypic complexity of multiple myeloma defined by multicolor spectral karyotyping, Blood, 92, 1743 Sawyer, 1998, Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping, Blood, 92, 4249, 10.1182/blood.V92.11.4269 Sawyer, 2001, Multicolour spectral karyotyping identifies new translocations and a recurring pathway for chromosome loss in multiple myeloma, Br J Haematol, 112, 167, 10.1046/j.1365-2141.2001.02546.x Cigudosa, 1998, Characterization of nonrandom chromosomal gains and losses in multiple myeloma by comparative genomic hybridization, Blood, 91, 3007, 10.1182/blood.V91.8.3007.3007_3007_3010 Avet-Loiseau, 1997, Molecular cytogenetic abnormalities in multiple myeloma and plasma cell leukemia measured using comparative genomic hybridization, Genes Chromosomes Cancer, 19, 124, 10.1002/(SICI)1098-2264(199706)19:2<124::AID-GCC8>3.0.CO;2-0 Gutierrez, 2004, Prognostic and biologic significance of chromosomal imbalances assessed by comparative genomic hybridization in multiple myeloma, Blood, 104, 2161, 10.1182/blood-2004-04-1319 Dewald, 2005, Relationship of patient survival and chromosome anomalies detected in metaphase and/or interphase cells at diagnosis of myeloma, Blood, 106, 3553, 10.1182/blood-2005-05-1981 Kapoor, 2010, Evidence for cytogenetic and fluorescence in situ hybridization risk stratification of newly diagnosed multiple myeloma in the era of novel therapies, Mayo Clin Proc, 85, 532, 10.4065/mcp.2009.0677 Nilsson, 2003, A pooled analysis of karyotypic patterns, breakpoints and imbalances in 783 cytogenetically abnormal multiple myelomas reveals frequently involved segments as well as significant age-and sex-related differences, Br J Haematol, 120, 960, 10.1046/j.1365-2141.2003.04221.x Chng, 2006, Analysis of genetic abnormalities provides insights into genetic evolution of hyperdiploid myeloma, Genes Chromosomes Cancer, 45, 1111, 10.1002/gcc.20375 Smadja, 2001, Hypodiploidy is a major prognostic factor in multiple myeloma, Blood, 98, 2229, 10.1182/blood.V98.7.2229 Fonseca, 2004, Genetics and cytogenetics of multiple myeloma: a workshop report, Cancer Res, 64, 1546, 10.1158/0008-5472.CAN-03-2876 Smadja, 1998, Chromosomal analysis in multiple myeloma: cytogenetic evidence of two different diseases, Leukemia, 12, 960, 10.1038/sj.leu.2401041 Tonon, 2007, Molecular pathogenesis of multiple myeloma, Hematol Oncol Clin N Am, 21, 985, 10.1016/j.hoc.2007.08.004 Bergsagel, 1996, Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma, Proc Natl Acad Sci USA, 93, 13931, 10.1073/pnas.93.24.13931 Bergsagel, 2005, Molecular pathogenesis and a consequent classification of multiple myeloma, J Clin Oncol, 23, 6333, 10.1200/JCO.2005.05.021 Fonseca, 2009, International Myeloma Working Group molecular classification of multiple myeloma: spot light review, Leukemia, 23, 2210, 10.1038/leu.2009.174 Fonseca, 2002, Myeloma and the t(11;14)(q13;q32): evidence for a biologically defined unique subset of patients, Blood, 99, 3735, 10.1182/blood.V99.10.3735 Chesi, 1998, The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts, Blood, 92, 3025, 10.1182/blood.V92.9.3025 Santra, 2003, A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript, Blood, 101, 2374, 10.1182/blood-2002-09-2801 Keats, 2003, In multiple myeloma t(4;14)(p16;q32) is an adverse prognostic factor irrespective of FGFR3 expression, Blood, 101, 1520, 10.1182/blood-2002-06-1675 Fonseca, 2003, Clinical and biologic implications of recurrent genomic aberrations in myeloma, Blood, 101, 4569, 10.1182/blood-2002-10-3017 Gertz, 2005, 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, 106, 2837, 10.1182/blood-2005-04-1411 Avet-Loiseau, 2007, Genetic abnormalities and survival in multiple myeloma: the experience of the Intergroupe Francophone du Myélome, Blood, 109, 3489, 10.1182/blood-2006-08-040410 Avet-Loiseau, 1999, 14q32 translocations and monosomy 13 observed in monoclonal gammopathy of undetermined significance delineate a multistep process for the oncogenesis of multiple myeloma. Intergroupe Francophone du Myélome, Cancer Res, 59, 4546 Jenner, 2007, Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma, Blood, 110, 3291, 10.1182/blood-2007-02-075069 Avet-Loiseau, 2001, Intergroupe Francophone du Myélome. Rearrangements of c-myc oncogene are present in 15% of primary human multiple myeloma tumors, Blood, 98, 3082, 10.1182/blood.V98.10.3082 Tricot, 1995, 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, 86, 4250, 10.1182/blood.V86.11.4250.bloodjournal86114250 Tricot, 1997, Unique role of cytogenetics in the prognosis of patients with myeloma receiving high-dose therapy and autotransplants, J Clin Oncol, 15, 2659, 10.1200/JCO.1997.15.7.2659 Pérez-Simón, 1998, Prognostic value of numerical chromosome aberrations in multiple myeloma: a FISH analysis of 15 different chromosomes, Blood, 91, 3366, 10.1182/blood.V91.9.3366 Avet-Loiseau, 2000, Chromosome 13 abnormalities in multiple myeloma are mostly monosomy 13, Br J Haematol, 111, 1116, 10.1046/j.1365-2141.2000.02488.x Fonseca, 2001, Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy, Leukemia, 15, 981, 10.1038/sj.leu.2402125 Shaughnessy, 2000, High incidence of chromosome 13 deletion in multiple myeloma detected by multiprobe interphase FISH, Blood, 96, 1505, 10.1182/blood.V96.4.1505 Zhou, 2009, The molecular characterization and clinical management of multiple myeloma in the post-genome era, Leukemia, 23, 1941, 10.1038/leu.2009.160 Neri, 1993, p53 gene mutation in multiple myeloma are associated with advanced forms of malignancy, Blood, 81, 128, 10.1182/blood.V81.1.128.128 Corradini, 1994, Inactivation of tumor suppressor genes, p53, and Rb1 in plasma cell dyscrasias, Leukemia, 8, 758 Owen, 1997, p53 gene mutation in multiple myeloma, Mol Pathol, 50, 18, 10.1136/mp.50.1.18 Drach, 1998, Presence of a p53 gene deletion in patients with multiple myeloma predicts for short survival after conventional-dose chemotherapy, Blood, 92, 802, 10.1182/blood.V92.3.802 Cremer, 2005, Delineation of distinct subgroups of multiple myeloma and a model for clonal evolution based on interphase cytogenetics, Genes Chrom Cancer, 44, 194, 10.1002/gcc.20231 Le Baccon, 2001, Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma, Genes Chrom Cancer, 32, 250, 10.1002/gcc.1189 Sawyer, 2005, Genomic instability in multiple myeloma: evidence for jumping segmental duplications of chromosome arm 1q, Genes Chromosomes Cancer, 42, 95, 10.1002/gcc.20109 Debes-Marun, 2003, Chromosome abnormalities clustering and its implication for pathogenesis and prognosis in myeloma, Leukemia, 17, 427, 10.1038/sj.leu.2402797 Qazilbash, 2007, Deletion of the short arm of chromosome 1(del1p) is a strong predictor of poor outcome in myeloma patients undergoing an autotransplant, Biol Blood Marrow Transplant, 13, 1066, 10.1016/j.bbmt.2007.05.014 Wu, 2007, Br J Haematol, 136, 615, 10.1111/j.1365-2141.2006.06481.x Chang, 2007, Chromosome 1p21 deletion is a novel prognostic marker in patients with multiple myeloma, Br J Haematol, 139, 51, 10.1111/j.1365-2141.2007.06750.x Walker, 2010, A compendium of myeloma associated chromosomal copy number abnormalities and their prognostic value, Blood, 116, 56, 10.1182/blood-2010-04-279596 Hanamura, 2006, Blood, 108, 1724, 10.1182/blood-2006-03-009910 Chang, 2006, Significant increase of CKS1B amplification from monoclonal gammopathy of undetermined significance to multiple myeloma and plasma cell leukaemia as demonstrated by interphase fluorescence in situ hybridization, Br J Haematol, 134, 613, 10.1111/j.1365-2141.2006.06237.x Treon, 2000, Elevated soluble MUC1 levels and decreased anti-MUC1 antibody levels in patients with multiple myeloma, Blood, 96, 3147, 10.1182/blood.V96.9.3147 Zhang, 2002, Myeloid cell factor-1 is a critical survival factor for multiple myeloma, Blood, 99, 1885, 10.1182/blood.V99.6.1885 Inoue, 2004, Overexpression of PDZK1 within the 1q12-q22 amplicon is likely to be associated with drug-resistance phenotype in multiple myeloma, Am J Pathol, 165, 71, 10.1016/S0002-9440(10)63276-2 Shaughnessy, 2005, Amplification and overexpression of CKS1B at chromosome band 1q21 is associated with reduced levels of p27Kip1 and an aggressive clinical course in multiple myeloma, Hematology, 10, 117, 10.1080/10245330512331390140 Chang, 2006, Multiple myeloma patients with CKS1B gene amplification have a shorter progression-free survival post-autologous stem cell transplantation, Br J Haematol, 135, 486, 10.1111/j.1365-2141.2006.06325.x Carrasco, 2006, High-resolution genomic profiles define distinct clinico-pathogenetic subgroups of multiple myeloma patients, Cancer Cell, 4, 313, 10.1016/j.ccr.2006.03.019 Walker, 2006, Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma, Blood, 108, 1733, 10.1182/blood-2006-02-005496 Shaughnessy, 2007, A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1, Blood, 109, 2276, 10.1182/blood-2006-07-038430 Zhan, 2007, CKS1B, over expressed in aggressive disease, regulates multiple myeloma growth and survival through SKP2- and p27Kip1- dependent and -independent mechanisms, Blood, 109, 4995, 10.1182/blood-2006-07-038703 Fabris, 2007, Transcriptional features of multiple myeloma patients with chromosome 1q gain, Leukemia, 21, 1113, 10.1038/sj.leu.2404616 Decaux, 2008, J Clin Oncol, 26, 798, 10.1200/JCO.2007.13.8545 Lestou, 2002, Uncovering novel inter-and intrachromosomal chromosome 1 aberrations in follicular lymphomas by using an innovative multicolor banding technique, Genes Chromosomes Cancer, 34, 201, 10.1002/gcc.10069 Itoyama, 2002, Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma, Genes Chrom Cancer, 35, 318, 10.1002/gcc.10120 Sawyer, 1998, Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin, Blood, 91, 1732, 10.1182/blood.V91.5.1732 Sawyer, 2009, Evidence for a novel mechanism for gene amplification in multiple myeloma: 1q12 pericentromeric heterochromatin mediates breakage-fusion-bridge cycles of a 1q12∼q23 amplicon, Br J Haematol, 147, 484, 10.1111/j.1365-2141.2009.07869.x Berger, 2007, Jumping translocations, Genes Chromosomes Cancer, 46, 717, 10.1002/gcc.20456 Fournier, 2007, Genetics and epigenetics of 1q rearrangements in hematological malignancies, Cytogenet Genome Res, 118, 320, 10.1159/000108316 Chng, 2007, Genetic events in the pathogenesis of multiple myeloma, Best Pract Res Clin Haematol, 20, 571, 10.1016/j.beha.2007.08.004 Nowell, 1976, The clonal evolution of tumor cell populations, Science, 194, 23, 10.1126/science.959840 Olney, 2009, Myelodysplastic syndromes, 141 Nilsson, 2004, MDS/AML-associated cytogenetic abnormalities in multiple myeloma and monoclonal gammopathy of undetermined significance: evidence for frequent de novo occurrence and multipotent stem cell involvement of del(20q), Genes Chromosomes Cancer, 41, 223, 10.1002/gcc.20078 Govindarajan, 1996, Preceding standard therapy is the likely cause of MDS after autotransplants for multiple myeloma, Br J Haematol, 95, 349, 10.1046/j.1365-2141.1996.d01-1891.x Jacobson, 2003, MDS-type abnormalities within myeloma signature karyotype (MM-MDS): only 13% 1-year survival despite tandem transplants, Br J Haematol, 122, 430, 10.1046/j.1365-2141.2003.04455.x Barlogie, 2008, Cytogenetically-defined myelodysplasia after melphalan-based autotransplantation for multiple myeloma linked to poor hematopoietic stem-cell mobilization: the Arkansas experience in more than 3,000 patients treated since 1989, Blood, 111, 94, 10.1182/blood-2007-06-097444 Maciejewski, 2008, Whole genome scanning as a cytogenetic tool in hematologic malignancies, Blood, 112, 965, 10.1182/blood-2008-02-130435 Claudio, 2002, A molecular compendium of genes expressed in multiple myeloma, Blood, 100, 2175, 10.1182/blood-2002-01-0008 Magrangeas, 2003, Gene expression profiling of multiple myeloma reveals molecular portraits in relation to the pathogenesis of the disease, Blood, 101, 4998, 10.1182/blood-2002-11-3385 Dring, 2004, A global expression-based analysis of the consequences of the t(4;14) on myeloma, Clin Cancer Res, 10, 5692, 10.1158/1078-0432.CCR-04-0467 Bergsagel, 2005, Cyclin D dysregulation: an early and unifying pathogenic event in multiple myeloma, Blood, 106, 296, 10.1182/blood-2005-01-0034 Angelli, 2005, Molecular classification of multiple myeloma: a distinct transcriptional profile characterizes patients expressing CCND1 and negative for 14q32 translocations, J Clin Oncol, 23, 7296, 10.1200/JCO.2005.01.3870 Zhan, 2006, The molecular classification of multiple myeloma, Blood, 108, 2020, 10.1182/blood-2005-11-013458 Agnelli, 2007, Upregulation of translational machinery and distinct genetic subgroups characterise hyperdiploidy in multiple myeloma, Br J Haematol, 136, 565, 10.1111/j.1365-2141.2006.06467.x Mahtouk, 2007, Input of DNA microarrays to identify novel mechanisms in multiple myeloma biology and therapeutic applications, Clin Cancer Res, 13, 7289, 10.1158/1078-0432.CCR-07-1758 Chng, 2007, Molecular dissection of hyperdiploid multiple myeloma by gene expression profiling, Cancer Res, 67, 2982, 10.1158/0008-5472.CAN-06-4046 Agnelli, 2009, A SNP microarray and FISH-based procedure to detect allelic imbalances in multiple myeloma: an integrated genomics approach reveals a wide gene dosage effect, Genes Chromosomes Cancer, 48, 603, 10.1002/gcc.20668 Chng, 2010, Correlation between array-comparative genomic hybridization-defined genomic gains and losses and survival: identification of 1p31-32 deletion as a prognostic factor in myeloma, Leukemia, 24, 833, 10.1038/leu.2010.21 Avet-Loiseau, 2009, Prognostic significance of copy-number alterations in multiple myeloma, J Clin Oncol, 27, 4585, 10.1200/JCO.2008.20.6136