Jumping translocations of 1q12 in multiple myeloma: A novel mechanism for deletion of 17p in cytogenetically defined high-risk disease

Blood

Volumn 123, Issue 16, 2014, Pages 2504-2512

  Sawyer, Jeffrey R ^a,b   Tian, Erming ^b   Heuck, Christoph J ^b   Epstein, Joshua ^b   Johann, Donald J ^b   Swanson, Charles M ^a   Lukacs, Janet L ^a   Johnson, Marian ^a   Binz, Regina ^a   Boast, Angela ^a   Sammartino, Gael ^a   Usmani, Saad ^b   Zangari, Maurizio ^b   Waheed, Sarah ^b   Van Rhee, Frits ^b   Barlogie, Bart ^b  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 1Q12; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE MYELOMA; PRIORITY JOURNAL; SPECTRAL KARYOTYPING; BONE MARROW CELL; CHROMOSOME 1; CHROMOSOME 17; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DISEASE COURSE; GENE TRANSLOCATION; GENETICS; INTERSPERSED REPEAT; KARYOTYPE; METABOLISM; PATHOLOGY; RISK;

BONE MARROW CELLS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETIC ANALYSIS; DISEASE PROGRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERSPERSED REPETITIVE SEQUENCES; KARYOTYPE; MULTIPLE MYELOMA; RISK; TRANSLOCATION, GENETIC;

EID: 84899046793     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-12-546077     Document Type: Article

References (42)

1. Kuehl WM, Bergsagel PL. Multiple myeloma: evolving genetic events and host interactions. Nat Rev Cancer. 2002;2(3):175-187. (Pubitemid 37328787)
2. Chng WJ, Dispenzieri A, Chim CS, et al. IMWG consensus on risk stratification in multiple myeloma. Leukemia. 2013;10:1-9.
3. 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. (Pubitemid 44316144)
4. 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.
5. 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.
6. Walker BA, Leone PE, Chiecchio L, et al. A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value. Blood. 2010;116(15):e56-e65.
7. López-Corral L, Gutiérrez NC, Vidriales MB, et al. The progression from MGUS to smoldering myeloma and eventually to multiple myeloma involves a clonal expansion of genetically abnormal plasma cells. Clin Cancer Res. 2011;17(7):1692-1700.
8. López-Corral L, Sarasquete ME, Beà S, et al. SNP-based mapping arrays reveal high genomic complexity in monoclonal gammopathies, from MGUS to myeloma status. Leukemia. 2012;26(12):2521-2529.
9. Kamada Y, Sakata-Yanagimoto M, Sanada M, et al. Identification of unbalanced genome copy number abnormalities in patients with multiple myeloma by single-nucleotide polymorphism genotyping microarray analysis. Int J Hematol. 2012;96(4):492-500.
10. Kuiper R, Broyl A, de Knegt Y, et al. A gene expression signature for high-risk multiple myeloma. Leukemia. 2012;26(11):2406-2413.
11. Beroukhim R, Mermel CH, Porter D, et al. The landscape of somatic copy-number alteration across human cancers. Nature. 2010;463(7283):899-905.
12. 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. (Pubitemid 44316143)
13. Treon SP, Maimonis P, Bua D, et al. Elevated soluble MUC1 levels and decreased anti-MUC1 antibody levels in patients with multiple myeloma. Blood. 2000;96(9):3147-3153.
14. Zhang B, Gojo I, Fenton RG. Myeloid cell factor-1 is a critical survival factor for multiple myeloma. Blood. 2002;99(6):1885-1893. (Pubitemid 34525465)
15. Zhan F, Huang Y, Colla S, et al. The molecular classification of multiple myeloma. Blood. 2006;108(6):2020-2028. (Pubitemid 44395016)
16. Shaughnessy JD Jr, Zhan F, Burington BE, et al. A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1. Blood. 2007;109(6):2276-2284. (Pubitemid 46425864)
17. Morgan GJ, Walker BA, Davies FE. The genetic architecture of multiple myeloma. Nat Rev Cancer. 2012;12(5):335-348.
18. Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B. Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin. Blood. 1998;91(5):1732-1741. (Pubitemid 28110339)
19. Fournier A, Florin A, Lefebvre C, Solly F, Leroux D, Callanan MB. Genetics and epigenetics of 1q rearrangements in hematological malignancies. Cytogenet Genome Res. 2007;118(2-4):320-327. (Pubitemid 350125272)
20. Fournier A, McLeer-Florin A, Lefebvre C, et al. 1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and gene expression in B cell lymphoma. EMBO Mol Med. 2010;2(5):159-171.
21. Lange K, Gadzicki D, Schlegelberger B, Göhring G. Recurrent involvement of heterochromatic regions in multiple myeloma-a multicolor FISH study. Leuk Res. 2010;34(8):1002-1006.
22. Sawyer JR, Tian E, Thomas E, et al. Evidence for a novel mechanism for gene amplification in multiple myeloma: 1q12 pericentromeric heterochromatin mediates breakage-fusion-bridge cycles of a 1q12 approximately 23 amplicon. Br J Haematol. 2009;147(4):484-494.
23. Sawyer JR, Waldron JA, Jagannath S, Barlogie B. Cytogenetic findings in 200 patients with multiple myeloma. Cancer Genet Cytogenet. 1995;82(1):41-49.
24. International System for Human Cytogenetic Nomenclature. In: Schmid M, ed. An International System for Human Cytogenetic Nomenclature. Basel: S. Karger; 2013.
25. National Center for Biotechnology Information. Human genome resources. http://www.ncbi.nlm.nih.gov/projects/genome/guide/human/). Accessed August 8, 2008.
26. Sawyer JR, Lukacs JL, Munshi N, et al. Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyoytping. Blood. 1998;91(11):4269-4278. (Pubitemid 28544344)
27. Sawyer JR, Tricot G, Lukacs JL, et al. Genomic instability in multiple myeloma: evidence for jumping segmental duplications of chromosome arm 1q. Genes Chromosomes Cancer. 2005;42(1):95-106. (Pubitemid 39578669)
28. Keats JJ, Chesi M, Egan JB, et al. Clonal competition with alternating dominance in multiple myeloma. Blood. 2012;120(5):1067-1076.
29. 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.
30. Walker BA, Wardell CP, Melchor L, et al. Intraclonal heterogeneity and distinct molecular mechanisms characterize the development of t(4;14) and t(11;14) myeloma. Blood. 2012;120(5):1077-1086.
31. Greaves M, Maley CC. Clonal evolution in cancer. Nature. 2012;481(7381):306-313.
32. Heim S, Mitelman F. eds. Cancer Cytogenetics. 3rd ed. Hoboken, NJ: Wiley-Blackwell; 2009.
33. Xu GL, Bestor TH, Bourc'his D, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402(6758):187-191.
34. Chng WJ, Huang GF, Chung TH, et al. Clinical and biological implications of MYC activation: a common difference between MGUS and newly diagnosed multiple myeloma. Leukemia. 2011;25(6):1026-1035.
35. Jenner MW, Leone PE, Walker BA, et al. 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. 2007;110(9):3291-3300. (Pubitemid 350106322)
36. Klein U, Jauch A, Hielscher T, et al. Chromosomal aberrations +1q21 and del(17p13) predict survival in patients with recurrent multiple myeloma treated with lenalidomide and dexamethasone. Cancer. 2011;117(10):2136-2144.
37. Boyd KD, Ross FM, Chiecchio L, et al NCRI Haematology Oncology Studies Group. A novel prognostic model in myeloma based on co-segregating adverse FISH lesions and the ISS: analysis of patients treated in the MRC Myeloma IX trial. Leukemia. 2012;26(2):349-355.
38. 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.
39. Grzasko N, Hus M, Pluta A, et al. Additional genetic abnormalities significantly worsen poor prognosis associated with 1q21 amplification in multiple myeloma patients. Hematol Oncol. 2013;31(1):41-48.
40. Chang H, Trieu Y, Qi X, Jiang NN, Xu W, Reece D. Impact of cytogenetics in patients with relapsed or refractory multiple myeloma treated with bortezomib: adverse effect of 1q21 gains. Leuk Res. 2011;35(1):95-98.
41. Neben K, Jauch A, Hielscher T, et al. Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del(17p), t(4;14), gain 1q, hyperdiploidy, and tumor load. J Clin Oncol. 2013;31(34):4325-4332.
42. 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.