Mutation mismatch repair gene deletions in diffuse large B-cell lymphoma

Leukemia and Lymphoma

Volumn 54, Issue 5, 2013, Pages 1079-1086

  Couronné, Lucile ^a   Ruminy, Philippe ^a   Waultier Rascalou, Agathe ^a   Rainville, Vinciane ^a   Cornic, Marie ^a   Picquenot, Jean Michel ^a   Figeac, Martin ^b   Bastard, Christian ^a   Tilly, Hervé ^a   Jardin, Fabrice ^a  

^a CENTRE HENRI BECQUEREL   (France)

^b JEAN PIERRE AUBERT RESEARCH CENTER   (France)

Author keywords

B cell lymphoma; Molecular pathogenesis; Mutation mismatch; Repair

Indexed keywords

B CELL MATURATION ANTIGEN; GENOMIC DNA; MISMATCH REPAIR PROTEIN PMS2; PROTEIN BCL 6; PROTEIN MSH2; PROTEIN MSH6; TRANSCRIPTION FACTOR PAX5;

ARTICLE; B CELL LYMPHOMA; CELL CYCLE REGULATION; CELL CYCLE S PHASE; CHROMOSOME 2; COLORECTAL CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; DNA BINDING; DNA REPAIR; FOLLICULAR LYMPHOMA; GENE DELETION; GENE EXPRESSION; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENOMIC INSTABILITY; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; LARGE CELL LYMPHOMA; LYMPH NODE BIOPSY; MAJOR CLINICAL STUDY; MALIGNANT TRANSFORMATION; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; MISMATCH REPAIR; MOLECULAR PATHOLOGY; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; MUTATION RATE; PERICENTRIC CHROMOSOME INVERSION; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; T CELL LYMPHOMA;

ADENOSINE TRIPHOSPHATASES; B-CELL-SPECIFIC ACTIVATOR PROTEIN; BIOPSY; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GENE DELETION; GENE EXPRESSION; GENETIC LOCI; GENOMIC INSTABILITY; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; IMMUNOGLOBULIN SWITCH REGION; LYMPHOMA, LARGE B-CELL, DIFFUSE; MUTATION; RETROSPECTIVE STUDIES;

EID: 84876236537     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.3109/10428194.2012.739687     Document Type: Article

References (57)

1. Pasqualucci L, Neumeister P, Goossens T, et al. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature 2001;412:341-346.
2. Lenz G, Nagel I, Siebert R, et al. Aberrant immunoglobulin class switch recombination and switch translocations in activated B cell-like diffuse large B cell lymphoma. J Exp Med 2007; 204: 633-643.
3. Liu M, Duke JL, Richter DJ, et al. Two levels of protection for the B cell genome during somatic hypermutation. Nature 2008;451:841-845.
4. Liu M, Schatz DG. Balancing AID and DNA repair during somatic hypermutation. Trends Immunol 2009;30:173-181.
5. van Oers JM, Roa S, Werling U, et al. PMS2 endonucleaseactivity has distinct biological functions and is essential for genome maintenance. Proc Natl Acad Sci USA 2010;107:13384-13389.
6. Peron S, Metin A, Gardes P, et al. Human PMS2 def ciency is associated with impaired immunoglobulin class switch recombination. J Exp Med 2008;205:2465-2472.
7. Stavnezer J, Guikema JE, Schrader CE. Mechanism and regulation of class switch recombination. Annu Rev Immunol 2008; 26: 261-292.
8. Rossi D, Rasi S, Di Rocco A, et al. The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma. Blood 2011; 117: 2405-2413.
9. Jardin F, Ruminy P, Kerckaert JP, et al. Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas. Haematologica 2008; 93: 543-550.
10. Casilli F, Di Rocco ZC, Gad S, et al. Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002;20:218-226.
11. Killian A, Di Fiore F, Le Pessot F, et al. A simple method for the routine detection of somatic quantitative genetic alterations in colorectal cancer. Gastroenterology 2007;132:645-653.
12. Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006;38:24-26.
13. Suraweera N, Duval A, Reperant M, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002;123:1804-1811.
14. Ruminy P, Etancelin P, Couronne L, et al. The isotype of the BCR as a surrogate for the GCB and ABC molecular subtypes in diffuse large B-cell lymphoma. Leukemia 2011; 25: 681-688.
15. Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-261.
16. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993; 75: 1027-1038.
17. Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993;75:1215-1225.
18. Papadopoulos N, Nicolaides NC, Wei YF, et al. Mutationofa mutL homolog in hereditary colon cancer. Science 1994;263:1625-1629.
19. Duval A, Hamelin R. Mutations at coding repeat sequences in mismatch repair-def cient human cancers: toward a new concept of target genes for instability. Cancer Res 2002;62:2447-2454.
20. Jardin F, Sahota SS. Targeted somatic mutation of the BCL6 proto-oncogene and its impact on lymphomagenesis. Hematology 2005;10:115-129.
21. Lossos IS, Okada CY, Tibshirani R, et al. Molecular analysis of immunoglobulin genes in diffuse large B-cell lymphomas. Blood 2000;95:1797-1803.
22. Ruminy P, Jardin F, Penther D, et al. Recurrent disruption of the Imu splice donor site in t(14;18) positive lymphomas: a potential molecular basis for aberrant downstream class switch recombination. Genes Chromosomes Cancer 2007;46:735-744.
23. Migliazza A, Martinotti S, Chen W, et al. Frequent somatic hypermutation of the 5'noncoding region of the BCL6 gene in B-cell lymphoma. Proc Natl Acad Sci USA 1995; 92: 12520-12524.
24. Klein U, Goossens T, Fischer M, et al. Somatic hypermutation in normal and transformed human B cells. Immunol Rev 1998; 162: 261-280.
25. Pasqualucci L, Migliazza A, Fracchiolla N, et al. BCL-6 mutations in normal germinal center B cells: evidence of somatic hypermutation acting outside Ig loci. Proc Natl Acad Sci USA 1998; 95: 11816-11821.
26. Shen HM, Peters A, Baron B, et al. Mutation of BCL-6 gene in normal B cells by the process of somatic hypermutation of Ig genes. Science 1998;280:1750-1752.
27. Stein H, Chan JKC, Warnke RA, et al. diffuse large B-cell lymphoma, not otherwise specifed. In: Swerdlow SH, Campo E, Harris NL, et al., editors. World Health Organization classification of tumours of haematopoietic and lymphoid tissues. 4th ed. Lyon: IARC Press; 2008. pp. 233-237.
28. Odegard VH, Kim ST, Anderson SM, et al. Histone modifications associated with somatic hypermutation. Immunity 2005;23:101-110.
29. Yang SY, Schatz DG. Targeting of AID-mediated sequence diversifcation by cis-acting determinants. Adv Immunol 2007;94: 109-125.
30. Longerich S, Basu U, Alt F, et al. AID in somatic hypermutation and class switch recombination. Curr Opin Immunol 2006; 18: 164-174.
31. McBride KM, Gazumyan A, Woo EM, et al. Regulation of class switch recombination and somatic mutation by AID phosphorylation. J Exp Med 2008;205:2585-2594.
32. Pineda M, Castellsague E, Musulen E, et al. Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene. Genes Chromosomes Cancer 2008;47:326-332.
33. Edelmann W, Yang K, Umar A, et al. Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 1997;91:467-477.
34. Ehrenstein MR, Neuberger MS. Def ciency in Msh2 af ects the ef ciency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation. EMBO J 1999;18:3484-3490.
35. Li Z, Scherer SJ, Ronai D, et al. Examination of Msh6-and Msh3-def cient mice in class switching reveals overlapping and distinct roles of MutS homologues in antibody diversification. J Exp Med 2004;200:47-59.
36. Martomo SA, Yang WW, Gearhart PJ. A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination. J Exp Med 2004;200:61-68.
37. Phung QH, Winter DB, Cranston A, et al. Increased hypermutation at G and C nucleotides in immunoglobulin variable genes from mice def cient in the MSH2 mismatch repair protein. J Exp Med 1998;187:1745-1751.
38. Rada C, Ehrenstein MR, Neuberger MS, et al. Hot spot focusing of somatic hypermutation in MSH2-def cient mice suggests two stages of mutational targeting. Immunity 1998;9:135-141.
39. Wiesendanger M, Kneitz B, Edelmann W, et al. Somatic hypermutation in MutS homologue (MSH)3-, MSH6-, and MSH3/MSH6-deficient mice reveals a role for the MSH2-MSH6 het-erodimer in modulating the base substitution pattern. J Exp Med 2000;191:579-584.
40. Wei K, Kucherlapati R, Edelmann W. Mouse models for human DNA mismatch-repair gene defects. Trends Mol Med 2002;8:346-353.
41. Roa S, Li Z, Peled JU, et al. MSH2/MSH6 complex promotes error-free repair of AID-induced dU:G mispairs as well as error-prone hypermutation of A:T sites. PLoS One 2010;5:e11182.
42. Peled JU, Sellers RS, Iglesias-Ussel MD, et al. Msh6 protects mature B cells from lymphoma by preserving genomic stability. Am J Pathol 2010;177:2597-2608.
43. Lowsky R, Magliocco A, Ichinohasama R, et al. MSH2-def cient murine lymphomas harbor insertion/deletion mutations in the transforming growth factor beta receptor type 2 gene and display low not high frequency microsatellite instability. Blood 2000; 95: 1767-1772.
44. Baker SM, Bronner CE, Zhang L, et al. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 1995; 82: 309-319.
45. Ehrenstein MR, Rada C, Jones AM, et al. Switch junction sequences in PMS2-def cient mice reveal a microhomology-mediated mechanism of Ig class switch recombination. Proc Natl Acad Sci USA 2001;98:14553-14558.
46. Schrader CE, Edelmann W, Kucherlapati R, et al. Reduced isotype switching in splenic B cells from mice def cient in mismatch repair enzymes. J Exp Med 1999;190:323-330.
47. Prolla TA, Baker SM, Harris AC, et al. Tumour susceptibility and spontaneous mutation in mice def cient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat Genet 1998;18:276-279.
48. Duval A, Raphael M, Brennetot C, et al. The mutator pathway is a feature of immunodef ciency-related lymphomas. Proc Natl Acad Sci USA 2004;101:5002-5007.
49. Gamberi B, Gaidano G, Parsa N, et al. Microsatellite instability is rare in B-cell non-Hodgkin's lymphomas. Blood 1997;89: 975-979.
50. Starostik P, Greiner A, Schwarz S, et al. The role of microsatellite instability in gastric low-and high-grade lymphoma development. Am J Pathol 2000;157:1129-1136.
51. Borie C, Colas C, Dartigues P, et al. The mechanisms underlying MMR def ciency in immunodef ciency-related non-Hodgkin lymphomas are Different from those in other sporadic microsatellite instable neoplasms. Int J Cancer 2009; 125: 2360-2366.
52. Kotoula V, Hytiroglou P, Kaloutsi V, et al. Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin. Leuk Lymphoma 2002; 43: 393-399.
53. Lowsky R, DeCoteau JF, Reitmair AH, et al. Defects of the mismatch repair gene MSH2 are implicated in the development of murine and human lymphoblastic lymphomas and are associated with the aberrant expression of rhombotin-2 (Lmo-2) and Tal-1 (SCL). Blood 1997;89:2276-2282.
54. Nagy M, Balazs M, Adam Z, et al. Genetic instability is associated with histological transformation of follicle center lymphoma. Leukemia 2000;14:2142-2148.
55. Xicola RM, Llor X, Pons E, et al. Performance of Different microsatellite marker panels for detection of mismatch repair-def cient colorectal tumors. J Natl Cancer Inst 2007;99:244-252.
56. Lohr JG, Stojanov P, Lawrence MS, et al. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci USA 2012; 109:3879-3884.
57. Morin RD, Mendez-Lago M, Mungall AJ, et al. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 2011; 476:298-303.