Identification of copy number abnormalities and inactivating mutations in two negative regulators of nuclear factor-κB signaling pathways in Waldenström's macroglobulinemia

Cancer Research

Volumn 69, Issue 8, 2009, Pages 3579-3588

  Braggio, Esteban ^a   Keats, Jonathan J ^a   Leleu, Xavier ^b   Van Wier, Scott ^a   Jimenez Zepeda, Victor H ^a   Valdez, Riccardo ^a   Schop, Roelandt F J ^a   Price Troska, Tammy ^c   Henderson, Kimberly ^c   Sacco, Antonio ^b   Azab, Feda ^b   Greipp, Philip ^c   Gertz, Morie ^c   Hayman, Suzanne ^c   Rajkumar, S Vincent ^c   Carpten, John ^d   Chesi, Marta ^a   Barrett, Michael ^d   Stewart, A Keith ^a   Dogan, Ahmet ^c   Bergsagel, P Leif ^a   Ghobrial, Irene M ^b   Fonseca, Rafael ^a   more..

^a MAYO CLINIC   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c MAYO CLINIC   (United States)

^d Translationsl Genomics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LIGAND; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 3;

ARTICLE; BONE MARROW CELL; CHROMOSOME 13Q; CHROMOSOME 6P; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME LOSS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE EXPRESSION PROFILING; GENE MUTATION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MICROENVIRONMENT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; UNIPARENTAL DISOMY; WALDENSTROEM MACROGLOBULINEMIA;

ALLELES; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENE DOSAGE; HUMANS; LOSS OF HETEROZYGOSITY; MICRORNAS; MUTATION; NF-KAPPA B; SIGNAL TRANSDUCTION; TNF RECEPTOR-ASSOCIATED FACTOR 3; TUMOR NECROSIS FACTOR-ALPHA; WALDENSTROM MACROGLOBULINEMIA;

EID: 65949104846     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-08-3701     Document Type: Article

References (49)

1. Fonseca R, Hayman S. Waldenström macroglobulinae-mia. Br J. Haematol 2007; 138: 700-20.
2. McMaster ML, Familial Waldenström's macroglobuli-nemia. Semin Oncol 2003; 30: 146-52
3. McMaster ML, Goldin LR, Bai Y. et al. Genomewide linkage screen for Waldenström's macroglobulinemia susceptibility loci in high-risk families. Am J. Hum Genet 2006; 79: 695-701. (Pubitemid 44452746)
4. Schop RF, Kuehl M, Van Wier SA. et al, Waldenström maeroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions. Blood 2002; 100: 2996-3001.
5. Terre C, Nguyen-Khac F, Barin C. et al. Trisomy 4, a new chromosomal abnormality in Waldenström's macroglobulinemia: a study of 39 cases. Leukemia 2006; 20: 1634-6. (Pubitemid 44264115)
6. Schop RF, Jalal SM, Van Wier SA. et al. Deletions of 17p13, 1 and 13q14 are uncommon in Waldenstrom macroglobulinemia clonal cells and mostly seen at the time of disease progression. Cancer Genet Cytogenet 2002; 132: 55-60. (Pubitemid 34136052)
7. Hayden MS, Gosh S. Signaling to NF-κB. Genes Dev 2004; 18: 2195-224. (Pubitemid 39209568)
8. Ghosh S, Karin M. Missing pieces in the NF-κB puzzle. Cell 2002; 109: S81-96. (Pubitemid 34457854)
9. Senftleben U, Cao Y, Xiao G. et al. Activation by IKKα of a second, evolutionary conserved, KF-κ B signaling pathway. Science 2001; 293: 1495-9. (Pubitemid 32801552)
10. Basseres DS, Baldwin A. Nuclear factor-κB and inhibitor of kB kinase pathways in oncogenic initiation and progression. Oncogene 2006; 25: 6817-30. (Pubitemid 44657854)
11. Courtois G, Gilmore T. Mutations in the NF~κB signaling pathway: implications for human disease. Oncogene 2006; 25: 6831-43. (Pubitemid 44657855)
12. Keats JJ, Fonseca R, Chesi M. et al. Promiscuous mutations activate the noncanonical NF-κB pathway in multiple myeloma. Cancer Cell 2007; 12: 131-44. (Pubitemid 47208626)
13. Annunziata CM, Davies R, Demchenko Y. et al. Frequent engagement of the classical and alternative NF-κB pathways by diverse genetic abnormalities in multiple myeloma. Cancer Cell 2007; 12: 115-30. (Pubitemid 47199123)
14. Lenz G, Wright GW, Emre NC. et al. Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Proc. Natl. Acad. Sci. U S A 2008; 105: 13520-5.
15. Lucas PC, Yonezumi M, Inohara N. et al, BcllO and MALT1, independent targets of chromosomal translocation in malt lymphoma, cooperate in a novel NF-κB signaling pathway. J. Biol. Chem 2001; 276: 19012-9 (Pubitemid 37411225)
16. Morgan JA, Yin Y, Borowsky AD. et al. Breakpoints of the t (11;18) (q21;q21) in mucosa-associated lymphoid tissue (MALT) lymphoma lie within or near the previously undescribed gene MALT1 in chromosome 18. Cancer Res 1999; 59: 6205-13. (Pubitemid 30035644)
17. Lipson D, Aumann Y, Ben-Dor A, Linial N, Yakhini Z. Efficient calculation of interval scores for DNA copy number data analysis, J. Comput Biol. 2006; 13: 215-28.
18. de Smith AJ, Tsalenko A, Sampas N. et al. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy White males: implications for association studies of complex diseases. Hum Mol. Genet 2007; 16: 2783-94.
19. Ahmann GJ, Jalal SM, Juneau AL. et al, A novel three-color, clone-specific fluorescence in situ hybridization procedure for monoclonal gammopathies. Cancer Genet Cytogenet 1998; 101: 7-11. (Pubitemid 28071352)
20. Chng WJ, Schop R, Price-Troska T. et al. Gene-expression profiling of Waldenstrom maeroglobulinemia reveals a phenotype more similar to chronic lymphocytic leukemia than multiple myeloma. Blood 2006; 108: 2755-63
21. Pasqualucci L, Compagno M, Houldsworth J. et al. Inactivation of the PRDM1/BL1MP1 gene in diffuse large B cell lymphoma. J. Exp Med 2006; 203: 311-7. (Pubitemid 43290840)
22. Honma K, Tsuzuki S, Nakagawa M. et al, TNFAIP3 is the target gene of chromosome band 6q23.3-q24.1 loss in ocular adnexal marginal zone B cell lymphoma. Genes Chromosomes Cancer 2008; 47: 1-7 (Pubitemid 350191458)
23. Thelander EF, lehimura K, Corcoran M. et al. Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia Leuk Lymphoma 2008; 49: 477-87.
24. Calin GA, Dumitru CD, Shimizu M. et al. Frequent deletions and down-regulation of miero-RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc. Natl. Acad. Sci. U S A 2002; 99: 15524-9. (Pubitemid 35403967)
25. Liao G, Zhang M, Harhaj EW, Sun SC. Regulation of the KF-κB-inducing kinase by tumor necrosis factor receptor-associated factor 3-induced degradation, J. Biol. Chem 2004; 279: 26243-50. (Pubitemid 38798772)
26. Ni CZ, Oganesyan G, Welsh K. et al. Key molecular contacts promote recognition of the BAFF receptor by TNF receptor-associated factor 3: implications for intracellular signaling regulation. J. Immunol 2004; 173: 7394-400. (Pubitemid 39628178)
27. Nutt SL, Heavey B, Rolink AG, Busslinger M, Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. Nature 1999; 401: 556-62 (Pubitemid 129517063)
28. Iida S, Rao PH, Nallasivam P. et al. The t (9;14) (p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene. Blood 1996; 88: 4110-7. (Pubitemid 26399155)
29. Dierlamm J, Pittaluga S, Wlodarska I. et al. Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features. Blood 1996; 87: 299-307. (Pubitemid 26011844)
30. Karhu R, Knuutila S, Kallioniemi OP. et al. Frequent loss of the 11q14-24 region in chronic lymphocytic leukemia: a study by comparative genomic hybridization. Tampere CLL Group. Genes Chromosomes Cancer 1997; 19: 286-90. (Pubitemid 27330241)
31. Sole F, Woessner S, Perez-Losada A. et al. Cytogenetic studies in seventy-six cases of B-chronic lymphoproliferative disorders. Cancer Genet Cytogenet 1997; 93: 160-6. (Pubitemid 27138663)
32. Fonseca R, Oken MM, Harrington D. et al. Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy. Leukemia 2001; 15: 981-6. (Pubitemid 32529901)
33. Calin GA, Cimmino A, Fabbri M. et al. MiR-15a and miR-16-1 cluster functions in human leukemia. Proc. Natl. Acad. Sci. U S A 2008; 105: 5166-71.
34. Cimmino A, Calin GA, Fabbri M. et al. miR-15 and miR-16 induce apoptosis by targeting BCL2. Proc Katl Acad Sci U S A 2005; 102: 13944-9. (Pubitemid 41377683)
35. Ferreira Bl, García JF, Suela J. et al. Comparative genome profiling across subtypes of low-grade B-cell lymphoma identifies type-specific and common aberrations that target genes with a role in B-cell neoplasia, Haematologica 2008; 93: 670-9.
36. Hauer J, Püschner S, Ramakrishnan P. et al. TNF receptor (TNFR) -associated factor (TRAF) 3 serves as an inhibitor of TRAF2/5-mediated activation of the non-canonical NF-κB pathway by TRAF-binding TNFRs. Proc. Natl. Acad. Sci. U S A 2005; 102: 2874-9. (Pubitemid 40299884)
37. He JQ, Zarnegar B, Oganesyan G. et al. Rescue of TRAF3-null mice by pl00 NF-κB deficiency. J. Exp Med 2006; 203: 2413-8. (Pubitemid 44664610)
38. Xie P, Stunz L, Larison KD, Yang B, Bishop GA. Tumor necrosis factor receptor-associated factor 3 is a critical regulator of B cell homeostasis in secondary' lymphoid organs. Immunity 2007; 27: 253-67. (Pubitemid 47284931)
39. Boone DL, Turer EE, Lee EG. et al. The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. Nat Immunol 2004; 5: 1052-60. (Pubitemid 41057725)
40. Wang YY, Li L, Han KJ, Zhai Z, Shu HB. A20 is a potent inhibitor of TLR3- and Sendai virus-induced activation of NF-κB and ISRE and IFN-β promoter. FEBS Lett 2004; 576: 86-90. (Pubitemid 39330462)
41. Lee EG, Boone DL, Chai S. et al. Failure to regulate TNF-induced NF-κB and cell death responses in A20-deficient mice. Science 2000; 289: 2350-4.
42. Graham RR, Cotsapas C, Davies L. et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008; Aug. 1 [Epub ahead of print].
43. Musone SL, Taylor KE, Lu TT. et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2008; Aug. 1 [Epub ahead of print].
44. Plenge RM, Cotsapas C, Davies L. et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007; 39: 1477-82. (Pubitemid 350191346)
45. Wolfrum S, Teupser D, Tan M, Chen KY, Breslow JL. The protective effect of A20 on atherosclerosis in apolipoprotein E-deficient mice is associated with reduced expression of NF-κB target genes. Proc. Natl. Acad. Sci. U S A 2007; 104: 18601-6. (Pubitemid 350210743)
46. Richardson PG, Rarlogie B, Berenson J. et al. A phase 2 study of bortezomib in relapsed, refractory myeloma, N Engl J. Med 2003; 348: 2609-17. (Pubitemid 36741588)
47. Chen CI, Kouroukis C, White D. et al. Bortezomib is active in patients with untreated or relapsed Waldenström's macroglobulinemia: a phase II study of the National Cancer Institute of Canada Clinical Trials Group, J. Clin. Oncol 2007; 25: 1570-5. (Pubitemid 46733084)
48. Leleu X, Eeckhoute J, Jia X. et al. Targeting NF-κB in Waldenstrom maeroglobulinemia. Blood 2008; 111: 5068-77
49. Treon SP, Hunter Z, Matous J. et al. Multicenter clinical trial of bortezomib in relapsed/refractory Waldenstrom's maeroglobulinemia: results of WMCTG Trial 03-248. Clin. Cancer Res 2007; 13: 3320-5. (Pubitemid 46944918)