What do somatic hypermutation and class switch recombination teach us about chronic lymphocytic leukaemia pathogenesis?

Current Topics in Microbiology and Immunology

Volumn 294, Issue , 2005, Pages 71-89

  Oppezzo, P ^a   Dighiero, G ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CD5 ANTIGEN; CYTIDINE DEAMINASE; EPITOPE; IMMUNOGLOBULIN D; IMMUNOGLOBULIN M;

B CELL LEUKEMIA; B CELL LYMPHOMA; B LYMPHOCYTE; CELL MATURATION; CELL PROLIFERATION; CELL SUBPOPULATION; CELL TRANSFORMATION; CHRONIC LYMPHATIC LEUKEMIA; ENZYME ACTIVATION; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GERMINAL CENTER; HUMAN; IMMUNOGLOBULIN GENE; LEUKEMIA CELL; LYMPH FOLLICLE; MORPHOLOGY; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; REVIEW; SOMATIC HYPERMUTATION; SOMATIC MUTATION;

EID: 27144462311     PISSN: 0070217X     EISSN: None     Source Type: Book Series    
DOI: 10.1007/3-540-29933-5_5     Document Type: Review

References (71)

1. Moreau EJ, Matutes E, A'Hern RP, Morilla AM, Morilla RM, Owusu-Ankomah KA, Seon BK, Catovsky D (1997) Improvement of the chronic lymphocytic leukemia scoring system with the monoclonal antibody SN8 (CD79b). Am J Clin Pathol 108:378-382
2. Ternynck T, Dighiero G, Follezou J, Binet JL (1974) Comparison of normal and CLL lymphocyte surface Ig determinants using peroxidase-labeled antibodies. I. Detection and quantitation of light chain determinants. Blood 43:789-795
3. Payelle-Brogard B, Magnac C, Alcover A, Roux P, Dighiero G (2002) Defective assembly of the B-cell receptor chains accounts for its low expression in B-chronic lymphocytic leukaemia. Br J Haematol 118:976-985
4. Payelle-Brogard B, Magnac C, Oppezzo P, Dumas G, Dighiero G, Vuillier F (2003) Retention and defective assembly of the B-cell receptor in the endoplasmic reticulum of chronic lymphocytic leukaemia B cells cannot be reverted upon CD40 ligand stimulation. Leukemia 17:1196-1199
5. Granziero L, Ghia P, Circosta P, Gottardi D, Strola G, Geuna M, Montagna L, Piccoli P, Chilosi M, Caligaris-Cappio F (2001) Survivin is expressed on CD40 stimulation and interfaces proliferation and apoptosis in B-cell chronic lymphocytic leukemia. Blood 97:2777-2783
6. Lagneaux L, Delforge A, De Bruyn C, Bernier M, Bron D (1999) Adhesion to bone marrow stroma inhibits apoptosis of chronic lymphocytic leukemia cells. Leuk Lymphoma 35:445-453
7. Chiorazzi N, Ferrarini M (2003) B cell chronic lymphocytic leukemia: lessons learned from studies of the B cell antigen receptor. Annu Rev Immunol 21:841-894
8. Vrhovac R, Delmer A, Tang R, Marie JP, Zittoun R, Ajchenbaum-Cymbalista F (1998) Prognostic significance of the cell cycle inhibitor p27Kip1 in chronic B-cell lymphocytic leukemia. Blood 91:4694-4700
9. Dighiero G (1988) An attempt to explain disordered immunity and hypogammaglobulinemia in B-CLL. Nouv Rev Fr Hematol 30:283-288
10. Honjo T, Kinoshita K, Muramatsu M (2002) Molecular mechanism of class switch recombination: linkage with somatic hypermutation. Annu Rev Immunol 20:165-196
11. Wu TT, Kabat EA, Bilofsky H (1979) Some sequence similarities among cloned mouse DNA segments that code for lambda and kappa light chains of immunoglobulins. Proc Natl Acad Sci U S A 76:4617-4621
12. Bachl J, Steinberg C, Wabl M (1997) Critical test of hot spot motifs for immunoglobulin hypermutation. Eur J Immunol 27:3398-3403
13. Dorner T, Brezinschek HP, Brezinschek RI, Foster SJ, Domiati-Saad R, Lipsky PE (1997) Analysis of the frequency and pattern of somatic mutations within nonproductively rearranged human variable heavy chain genes. J Immunol 158:2779-2789
14. Jacobs H, Bross L (2001) Towards an understanding of somatic hypermutation. Curr Opin Immunol 13:208-218
15. Pascual V, Liu YJ, Magalski A, de Bouteiller O, Banchereau J, Capra JD (1994) Analysis of somatic mutation in five B cell subsets of human tonsil. J Exp Med 180:329-339
16. Kipps TJ (1993) Immunoglobulin genes in chronic lymphocytic leukemia [see comments]. Blood Cells 19:615-625; discussion 631-612
17. Schroeder HW Jr, Dighiero G (1994) The pathogenesis of chronic lymphocytic leukemia: analysis of the antibody repertoire. Immunol Today 15:288-294
18. Fais F, Ghiotto F, Hashimoto S, Sellars B, Valette A, Allen SL, Schulman P, Vinciguerra VP, Rai K, Rassenti LZ, et al (1998) Chronic lymphocytic leukemia B cells express restricted sets of mutated and unmutated antigen receptors. J Clin Invest 102:1515-1525
19. Vasconcelos Y, Davi F, Levy V, Oppezzo P, Magnac C, Michel A, Yamamoto M, Pritsch O, Merle-Beral H, Maloum K, et al (2003) Binet's staging system and VH genes are independent but complementary prognostic indicators in chronic lymphocytic leukemia. J Clin Oncol 21:3928-3932
20. Ghiotto F, Fais F, Valette A, Albesiano E, Hashimoto S, Dono M, Ikematsu H, Allen SL, Kolitz J, Rai KR, et al (2004) Remarkably similar antigen receptors among a subset of patients with chronic lymphocy tic leukemia. J Clin Invest 113:1008-1016
21. Tobin G, Thunberg U, Johnson A, Thorn I, Soderberg O, Hultdin M, Botling J, Enblad G, Sallstrom J, Sundstrom C, et al (2002) Somatically mutated Ig V(H)3-21 genes characterize a new subset of chronic lymphocytic leukemia. Blood 99:2262-2264
22. Damle RN, Ghiotto F, Valette A, Albesiano E, Fais F, Yan XJ, Sison CP, Allen SL, Kolitz J, Schulman P, et al (2002) B-cell chronic lymphocytic leukemia cells express a surface membrane phenotype of activated, antigen-experienced B lymphocytes. Blood 99:4087-4093
23. Hamblin TJ, Davis Z, Gardiner A, Oscier DG, Stevenson FK (1999) Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 94:1848-1854
24. Maloum K, Davi F, Merle-Beral H, Pritsch O, Magnac C, Vuillier F, Dighiero G, Troussard X, Mauro FF, Benichou J (2000) Expression of unmutated VH genes is a detrimental prognostic factor in chronic lymphocytic leukemia. Blood 96:377-379
25. Rai KR, Sawitsky A, Cronkite EP, Chanana AD, Levy RN, Pasternack BS (1975) Clinical staging of chronic lymphocytic leukemia. Blood 46:219-234
26. Binet JL, Lepoprier M, Dighiero G, Charron D, D'Athis P, Vaugier G, Beral HM, Natali JC, Raphael M, Nizet B, et al (1977) A clinical staging system for chronic lymphocytic leukemia: prognostic significance. Cancer 40:855-864
27. Klein U, Tu Y, Stolovitzky GA, Mattioli M, Cattoretti G, Husson H, Freedman A, Inghirami G, Cro L, Baldini L, et al (2001) Gene expression profiling of B cell chronic lymphocytic leukemia reveals a homogeneous phenotype related to memory B cells. J Exp Med 194:1625-1638
28. Rosenwald A, Alizadeh AA, Widhopf G, Simon R, Davis RE, Yu X, Yang L, Pickeral OK, Rassenti LZ, Powell J, et al (2001) Relation of gene expression phenotype to immunoglobulin mutation genotype in B cell chronic lymphocytic leukemia. J Exp Med 194:1639-1647
29. Wiestner A, Rosenwald A, Barry TS, Wright G, Davis RE, Henrickson SE, Zhao H, Ibbotson RE, Orchard JA, Davis Z, et al (2003) ZAP-70 expression identifies a chronic lymphocytic leukemia subtype with unmutated immunoglobulin genes, inferior clinical outcome, and distinct gene expression profile. Blood 101:4944-4945
30. Vasconcelos Y, Vos JD, Vallat L, Rerne T, Lalanne AI, Wanherdrick K, Michel A, Oppezzo P, Magnac C, Maloum K, et al (2005) Genes involved in B-cell receptor activation, cytoskeleton organisation and microenvironment interactions are expressed differentially in stable Ig-mutated and progressive Ig-unmutated chronic lymphocytic leukemia. Leukemia (in press)
31. Lanham S, Hamblin T, Oscier D, Ibbotson R, Stevenson F, Packham G (2003) Differential signaling via surface IgM is associated with VH gene mutational status and CD38 expression in chronic lymphocytic leukemia. Blood 101:1087-1093
32. Chen L, Widhopf G, Huynh L, Rassenti L, Rai KR, Weiss A, Kipps TJ (2002) Expression of ZAP-70 is associated with increased B-cell receptor signaling in chronic lymphocytic leukemia. Blood 100:4609-4614
33. Pritsch O, Hudry-Clergeon G, Buckle M, Petillot Y, Bouvet JP, Gagnon J, Dighiero G (1996) Can immunoglobulin C(H)1 constant region domain modulate antigen binding affinity of antibodies? J Clin Invest 98:2235-2243
34. Shimizu A, Takahashi N, Yaoita Y, Honjo T (1982) Organization of the constant-region gene family of the mouse immunoglobulin heavy chain. Cell 28:499-506
35. Kinoshita K, Honjo T (2001) Linking class-switch recombination with somatic hypermutation. Nat Rev Mol Cell Biol 2:493-503
36. Iwasato T, Shimizu A, Honjo T, Yamagishi H (1990) Circular DNA is excised by immunoglobulin class switch recombination. Cell 62:143-149
37. Matsuoka M, Yoshida K, Maeda T, Usuda S, Sakano H (1990) Switch circular DNA formed in cytokine-treated mouse splenocytes: evidence for intramolecular DNA deletion in immunoglobulin class switching. Cell 62:135-142
38. Lorenz M, Jung S, Radbruch A (1995) Switch transcripts in immunoglobulin class switching. Science 267:1825-1828
39. Sawyers CL, Denny CT, Witte ON (1991) Leukemia and the disruption of normal hematopoiesis. Cell 64:337-350
40. Dighiero G, Travade P, Chevret S, Pénaux P, Chastang C, Binet JL (1991) B-cell chronic lymphocytic leukemia: present status and future directions. French Cooperative Group on CLL. Blood 78:1901-1914
41. Fu SM, Chiorazzi N, Kunkel HG, Halper JP, Harris SR (1978) Induction of in vitro differentiation and immunoglobulin synthesis of human leukemic B lymphocytes. J Exp Med 148:1570-1578
42. Totterman TH, Nilsson K, Sundstrom C (1980) Phorbol ester-induced differentiation of chronic lymphocytic leukaemia cells. Nature 288:176-178
43. Juliusson G, Robert KH, Hammarstrom L, Smith CI, Biberfeld G, Gahrton G (1983) Mitogen-induced switching of immunoglobulin heavy-chain class secretion in chronic B-lymphocytic leukaemia and immunocytoma cell populations. Scand J Immunol 17:51-59
44. Sarfati M, Luo H, Delespesse G (1989) IgE synthesis by chronic lymphocytic leukemia cells. J Exp Med 170:1775-1780
45. Fais F, Sellars B, Ghiotto F, Yan XJ, Dono M, Allen SL, Budman D, Dittmar K, Kolitz J, Lichtman SM, et al (1996) Examples of in vivo isotype class switching in IgM+ chronic lymphocytic leukemia B cells. J Clin Invest 98:1659-1666
46. Oppezzo P, Magnac C, Bianchi S, Vuillier F, Tiscornia A, Dumas G, Payelle-Brogard B, Ajchenbaum-Cymbalista F, Dighiero G, Pritsch O (2002) Do CLL B-cells correspond to naive or memory B-lymphocytes. Leukemia 16:2438-2446
47. Sideras P, Mizuta TR, Kanamori H, Suzuki N, Okamoto M, Kuze K, Ohno H, Doi S, Fukuhara S, Hassan MS, et al (1989) Production of sterile transcripts of C gamma genes in an IgM-producing human neoplastic B cell line that switches to IgG-producing cells. Int Immunol 1:631-642
48. Fujieda S, Lin YQ, Saxon A, Zhang K (1996) Multiple types of chimeric germ-line Ig heavy chain transcripts in human B cells: evidence for trans-splicing of human Ig RNA. J Immunol 157:3450-3459
49. Mizuta TR, Suzuki N, Shimizu A, Honjo T (1991) Duplicated variable region genes account for double isotype expression in a human leukemic B-cell line that gives rise to single isotype-expressing cells. J Biol Chem 266:12514-12521
50. Oppezzo P, Vuillier F, Vasconcelos Y, Dumas G, Magnac C, Payelle-Brogard B, Pritsch O, Dighiero G (2003) Chronic lymphocytic leukemia B cells expressing AID display a dissociation between class switch recombination and somatic hypermutation. Blood 9:9
51. Gearhart PJ, Johnson ND, Douglas R, Hood L (1981) IgG antibodies to phosphorylcholine exhibit more diversity than their IgM counterparts. Nature 291:29-34
52. Siekevitz M, Kocks C, Rajewsky K, Dildrop R (1987) Analysis of somatic mutation and class switching in naive and memory B cells generating adoptive primary and secondary responses. Cell 48:757-770
53. Muramatsu M, Sankaranand VS, Anant S, Sugai M, Kinoshita K, Davidson NO, Honjo T (1999) Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells. J Biol Chem 274:18470-18476
54. Yoshikawa K, Okazaki IM, Eto T, Kinoshita K, Muramatsu M, Nagaoka H, Honjo T (2002) AID enzyme-induced hypermutation in an actively transcribed gene in fibroblasts. Science 296:2033-2036
55. Petersen-Mahrt SK, Harris RS, Neuberger MS (2002) AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 418:99-103
56. Rada C, Williams GT, Nilsen H, Barnes DE, Lindahl T, Neuberger MS (2002) Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNO-deficient mice. Curr Biol 12:1748-1755
57. Besmer E, Gourzi P, Papavasiliou FN (2004) The regulation of somatic hypermutation. Curr Opin Immunol 16:241-245
58. Okazaki IM, Hiai H, Kakazu N, Yamada S, Muramatsu M, Kinoshita K, Honjo T (2003) Constitutive expression of AID leads to tumorigenesis. J Exp Med 197:1173-1181
59. Gonda H, Sugai M, Nambu Y, Katakai T, Agata Y, Mori KJ, Yokota Y, Shimizu A (2003) The balance between Pax5 and Id2 activities is the key to AID gene expression. J Exp Med 198:1427-1437
60. Nagaoka H, Muramatsu M, Yamamura N, Kinoshita K, Honjo T (2002) Activation-induced deaminase (AID)-directed hypermutation in the immunoglobulin Smu region: implication of AID involvement in a common step of class switch recombination and somatic hypermutation. J Exp Med 195:529-534
61. Honjo T (2002) Does AID need another aid? Nat Immunol 3:800-801
62. McCarthy H, Wierda WG, Barron LL, Cromwell CC, Wang J, Coombes KR, Rangel R, Elenitoba-Johnson KS, Keating MJ, Abruzzo LV (2003) High expression of activation-induced cytidine deaminase (AID) and splice variants is a distinctive feature of poor-prognosis chronic lymphocytic leukemia. Blood 101:4903-4908
63. Albesiano E, Messmer BT, Damle RN, Allen SL, Rai KR, Chiorazzi N (2003) Activation-induced cytidine deaminase in chronic lymphocytic leukemia B cells: expression as multiple forms in a dynamic, variably sized fraction of the clone. Blood 102:3333-3339
64. Greeve J, Philipsen A, Krause K, Klapper W, Heidorn K, Castle BE, Janda J, Marcu KB, Parwaresch R (2003) Expression of activation-induced cytidine deaminase in human B-cell non-Hodgkin lymphomas. Blood 101:3574-3580
65. Smit LA, Bende RJ, Aten J, Guikema JE, Aarts WM, van Noesel CJ (2003) Expression of activation-induced cytidine deaminase is confined to B-cell non-Hodgkin's lymphomas of germinal-center phenotype. Cancer Res 63:3894-3898
66. Babbage G, Garand R, Robillard N, Zojer N, Stevenson FK, Sahota SS (2004) Mantle cell lymphoma with t(11;14) and unmutated or mutated VH genes expresses AID and undergoes isotype switch events. Blood 103:2795-2798
67. Dighiero G, Maloum K, Desablens B, Cazin B, Navarro M, Leblay R, Leporrier M, Jaubert J, Lepeu G, Dreyfus B, et al (1998) Chlorambucil in indolent chronic lymphocytic leukemia. French Cooperative Group on Chronic Lymphocytic Leukemia. N Engl J Med 338:1506-1514
68. Kuppers R, Fischer U, Rajewsky K, Gause A (1992) Immunoglobulin heavy and light chain gene sequences of a human CD5 positive immunocytoma and sequences of four novel VHIII germline genes. Immunol Lett 34:57-62
69. Weller S, Faili A, Garcia C, Braun MC, Le Deist FF, de Saint Basile GG, Hermine O, Fischer A, Reynaud CA, Weill JC (2001) CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. Proc Natl Acad Sci USA9 8:1166-1170
70. Agematsu K, Nagumo H, Shinozaki K, Hokibara S, Yasui K, Terada K, Kawamura N, Toba T, Nonoyama S, Ochs HD, et al (1998) Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome. J Clin Invest 102:853-860
71. Caligaris-Cappio F, Hamblin TJ (1999) B-cell chronic lymphocytic leukemia. A bird of a different feather. J Clin Oncol 17:399-408