A20 deletion is associated with copy number gain at the TNFAIBIC locus and occurs preferentially in translocation-negative MALT lymphoma of the ocular adnexa and salivary glands

Journal of Pathology

Volumn 217, Issue 3, 2009, Pages 420-430

  Chanudet, E ^a   Ye, H ^a   Ferry, J ^b   Bacon, C M ^a   Adam, P ^c   Muller Hermelink H K ^c   Radford, J ^d   Pileri, S A ^e   Ichimura, K ^a   Collins, V P ^a   Hamoudi, R A ^a   Nicholson, A G ^f   Wotherspoon, A C ^g   Isaacson, P G ^h   Du, M Q ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d CHRISTIE HOSPITAL   (United Kingdom)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f ROYAL BROMPTON HOSPITAL   (United Kingdom)

^g ROYAL MARSDEN HOSPITAL   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

A20; Array comparative genomic hybridization; MALT lymphoma; TNF

Indexed keywords

I KAPPA B; NUCLEAR PROTEIN; SIGNAL PEPTIDE; TNFAIP3 PROTEIN, HUMAN; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CHROMOSOME 6; CHROMOSOME LOSS; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; EYE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; HUMAN; HUMAN TISSUE; LIVER; MUCOSA ASSOCIATED LYMPHOID TISSUE LYMPHOMA; PRIORITY JOURNAL; SALIVARY GLAND; THYROID GLAND; AGED; CHROMOSOME ABERRATION; COMPARATIVE STUDY; DNA MICROARRAY; FEMALE; GENE EXPRESSION PROFILING; GENE TRANSLOCATION; GENETICS; INTERPHASE; LIVER TUMOR; LUNG TUMOR; MALE; MARGINAL ZONE LYMPHOMA; METHODOLOGY; MIDDLE AGED; ORBIT TUMOR; SALIVARY GLAND TUMOR; SKIN TUMOR; STOMACH TUMOR; THYROID TUMOR;

AGED; AGED, 80 AND OVER; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE EXPRESSION PROFILING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERPHASE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIVER NEOPLASMS; LUNG NEOPLASMS; LYMPHOMA, B-CELL, MARGINAL ZONE; MALE; MIDDLE AGED; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; ORBITAL NEOPLASMS; SALIVARY GLAND NEOPLASMS; SEQUENCE DELETION; SKIN NEOPLASMS; STOMACH NEOPLASMS; THYROID NEOPLASMS; TRANSLOCATION, GENETIC; TUMOR NECROSIS FACTOR-ALPHA;

EID: 60549110050     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.2466     Document Type: Article

References (44)

1. Du MQ. MALT lymphoma: recent advances in aetiology and molecular genetics. J Clin Exp Hematop 2007;47:31-42.
2. Ye H, Liu H, Attygalle A, Wotherspoon AC, Nicholson AG, Charlotte F, et al. Variable frequencies of t(11; 18)(q21; q21) in MALT lymphomas of different sites: significant association with CagA strains of H. pylori in gastric MALT lymphoma. Blood 2003;102:1012-1018.
3. Remstein ED, Dogan A, Einerson RR, Paternoster SF, Fink SR, Law M, et al. The incidence and anatomic site specificity of chro mosomal translocations in primary extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lym phoma) in North America. Am J Surg Pathol 2006;30:1546-1553.
4. Ye H, Gong L, Liu H, Ruskone-Fourmestraux A, de Jong D, Pileri S, et al. Strong BCL10 nuclear expression identifies gastric MALT lymphomas that do not respond to H. pylori eradication. Gut 2006;55:137- 138.
5. Goatly A, Bacon CM, Nakamura S, Ye H, Kim I, Brown PJ, et al. FOXP1 abnormalities in lymphoma: translocation breakpoint mapping reveals insights into deregulated transcriptional control. Mod Pathol 2008;21:902-911.
6. Haralambieva E, Adam P, Ventura R, Katzenberger T, Kalla J, Holler S, et al. Genetic rearrangement of FOXP1 is predominantly detected in a subset of diffuse large B-cell lymphomas with extranodal presentation. Leukemia 2006;20:1300-1303.
7. Hu H, Wang B, Borde M, Nardone J, Maika S, Allred L, et al. Foxpl is an essential transcriptional regulator of B cell development. Nat Immunol 2006;7:819-826.
8. Isaacson PG, Du M.Q. MALT lymphoma: from morphology to molecules. Nat Rev Cancer 2004;4:644-653.
9. Liu H, Ruskone Fourmestraux A, Lavergne-Slove A, Ye H, Molina T, Bouhnik Y, et al. Resistance of t(11; 18) positive gastric mucosa-associated lymphoid tissue lymphoma to Helicobacter pylori eradication therapy. Lancet 2000;357:39-40.
10. Ye H, Gong L, Liu H, Ruskone-Fourmestraux A, de Jong D, Pileri S, et al. Strong BCL10 nuclear expression identifies gastric MALT lymphomas that do not respond to H. pylori eradication. Gut 2006;55:137- 138.
11. Brynes RK, Almaguer PD, Leathery KE, McCourty A, Arber DA, Medeiros LJ, et al. Numerical cytogenetic abnormalities of chromosomes 3, 7, and 12 in marginal zone B-cell lymphomas. Mod Pathol 1996;9:995-1000.
12. Streubel B, Simonitsch-Klupp I, Mullauer L, Lamprecht A, Huber D, Siebert R, et al. Variable frequencies of MALT lymphomaassociated genetic aberrations in MALT lymphomas of different sites. Leukemia 2004;18:1722-1726.
13. Zhou Y, Ye H, Martin-Subero JI, Hamoudi R, Lu YJ, Wang R, et al. Distinct comparative genomic hybridization profiles in gastric mucosa-associated lymphoid tissue lymphomas with and without t(11; 18)(q21; q21). Br J Haematol 2006;133:35-42.
14. Zhou Y, Ye H, Martin-Subero JI, Gesk S, Hamoudi RA, Lu YJ, et al. The pattern of genomic gains in salivary gland MALT lymphomas. Haematologica 2007;92:921-927.
15. Johnson NA, Hamoudi RA, Ichimura K, Liu L, Pearson DM, Collins VP, et al. Application of array CGH on archival formalinfixed paraffin-embedded tissues including small numbers of microdissected cells. Lab Invest 2006;86:968-978.
16. Chanudet E, Zhou Y, Bacon C, Wotherspoon A, Muller-Hermelink HK, Adam P, et al. Chlamydia psittaci is variably associated with ocular adnexal MALT lymphoma in different geographical regions. J Pathol 2006;209:344-351.
17. Ye H, Dogan A, Karran L, Willis TG, Chen L, Wlodarska I, et al. BCLIO expression in normal and neoplastic lymphoid tissue: nuclear localization in MALT lymphoma. Am J Pathol 2000;157:1147-1154.
18. Chanudet E, Adam P, Nicholson AG, Wotherspoon AC, Ranaldi R, Goteri G, et al. Chlamydia and Mycoplasma infections in pulmonary MALT lymphoma. Br J Cancer 2007;97:949-951.
19. McCabe MG, Ichimura K, Liu L, Plant K, Backlund LM, Pear son DM, et al. High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial prim itive neuroectodermal tumors. J Neuropathol Exp Neurol 2006;65:549-561.
20. Ichimura K, Mungall AJ, Fiegler H, Pearson DM, Dunham I, Carter NP, et al. Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH. Oncogene 2006;25:1261-1271.
21. Boone DL, Turer EE, Lee EG, Ahmad RC, Wheeler MT, Tsui C, et al. The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. Nat Immunol 2004;5:1052-1060.
22. Opipari AW Jr, Boguski MS, Dixit VM. The A20 cDNA induced by tumor necrosis factor alpha encodes a novel type of zinc finger protein. J Biol Chem 1990;265:14705-14708.
23. Whang Peng J, Knutsen T, Jaffe E, Raffeld M, Zhao WP, Duffey P, et al. Cytogenetic study of two cases with lymphoma of mucosa-associated lymphoid tissue. Cancer Genet Cytogenet 1994;77:74-80.
24. Aiello A, Du MQ, Diss TC, Peng HZ, Pezzella F, Papini D, et al. Simultaneous phenotypically distinct but clonally identical mucosa-associated lymphoid tissue and follicular lymphoma in a patient with Sjogren's syndrome. Blood 1999;94:2247-2251.
25. Menasce LP, Orphanos V, Santibanez-Koref M, Boyle JM, Harrison CJ. Common region of deletion on the long arm of chro mosome 6 in non-Hodgkin's lymphoma and acute lymphoblastic leukaemia. Genes Chromosomes Cancer 1994;10:286-288.
26. Ross CW, Ouillette PD, Saddler CM, Shedden KA, Malek SN. Comprehensive analysis of copy number and allele status identifies multiple chromosome defects underlying follicular lymphoma pathogenesis. Clin Cancer Res 2007;13:4777-4785.
27. Tagawa H, Suguro M, Tsuzuki S, Matsuo K, Karnan S, Ohshima K, et al. Comparison of genome profiles for identification of distinct subgroups of diffuse large B-cell lymphoma. Blood 2005;106:1770-1777.
28. Taborelli M, Tibiletti MG, Martin V, Pozzi B, Bertoni F, Capella C. Chromosome band 6q deletion pattern in malignant lymphomas. Cancer Genet Cytogenet 2006;165:106-113.
29. Kim WS, Honma K, Karnan S, Tagawa H, Kim YD, Oh YL, et al. Genome-wide array-based comparative genomic hybridiza tion of ocular marginal zone B cell lymphoma: comparison with pulmonary and nodal marginal zone B cell lymphoma. Genes Chromosomes Cancer 2007;46:776-783.
30. Honma K, Tsuzuki S, Nakagawa M, Karnan S, Aizawa Y, Kim WS, 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.
31. Lin SC, Chung JY, Lamothe B, Rajashankar K, Lu M, Lo YC, et al. Molecular basis for the unique deubiquitinating activity of the NF-κB inhibitor A20. J Mol Biol 2008;376:526-540.
32. Coornaert B, Baens M, Heyninck K, Bekaert T, Haegman M, Staal J, et al. T cell antigen receptor stimulation induces MALT1 paracaspase-mediated cleavage of the NF0B inhibitor A20. Nat Immunol 2008;9:263-271.
33. Greetham D, Ellis CD, Mewar D, Fearon U, an Ultaigh SN, Veale DJ, et al. Functional characterization of NF-κB inhibitor-like protein 1 (NF-κBILl), a candidate susceptibility gene for rheuma toid arthritis. Hum Mol Genet 2007;16:3027-3036.
34. Aggarwal BB. Signalling pathways of the TNF superfamily: a double-edged sword. Nat Rev Immunol 2003;3:745-756.
35. Kelliher MA, Grimm S, Ishida Y, Kuo F, Stanger BZ, Leder P. The death domain kinase RIP mediates the TNF-induced NF-κB signal. Immunity 1998;8:297-303.
36. Wertz IE, O'Rourke KM, Zhou H, Eby M, Aravind L, Seshagiri S, et al. De-ubiquitination and ubiquitin ligase domains of A20 downregulate NF-κB signalling. Nature 2004;430:694-699.
37. Arevalo JF, Lowder CY, Muci-Mendoza R. Ocular manifestations of systemic lupus erythematosus. Curr Opin Ophthalmol 2002;13:404-410.
38. Bjerrum KB. Primary Sjogren's syndrome and keratoconjunctivitis sicca: diagnostic methods, frequency and social disease aspects. Acta Ophthalmol Scand Suppl 2000;231:1-37.
39. Kubota T, Moritani S, Yoshino T, Nagai H, Terasaki H. Ocu lar adnexal mucosa-associated lymphoid tissue lymphoma with polyclonal hypergammaglobulinemia. Am J Ophthalmol 2008;145:941-950.
40. Adam P, Haralambieva E, Hartmann M, Mao Z, Ott G, Rosenwald A. Rare occurrence of IgVH gene translocations and restricted IgVH gene repertoire in ocular MALT-type lymphoma. Haematologica 2008;93:319-320.
41. Mackay F, Kalled SL. TNF ligands and receptors in autoimmunity: an update. Curr Opin Immunol 2002;14:783-790.
42. Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Mailer J, et al. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007;39:1477-1482.
43. Musone SL, Taylor KE, Lu TT, Nititham J, Ferreira RC, Ortmann W, et al. Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2007;39:1477-1482.
44. Ferreri AJ, Ponzoni M, Guidoboni M, De Conciliis C, Resti AG, Mazzi B, et al. Regression of ocular adnexal lymphoma after Chlamydia psittaci-eradicating antibiotic therapy. J Clin Oncol 2005;23:5067-5073.