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Molecular and genomic aberrations in Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas
Author(s) -
Zhu Daxing,
Ikpatt Offiong F.,
Dubovy Sander R.,
Lossos Chen,
Natkunam Yasodha,
ChapmanFredricks Jennifer R.,
Fan YaoShan,
Lossos Izidore S.
Publication year - 2013
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.23490
Subject(s) - biology , chlamydophila , pathogenesis , chromosomal translocation , marginal zone , mutation , chlamydia psittaci , lymphoma , cancer research , genetics , gene , immunology , chlamydia , b cell , antibody
The etiology and pathogenesis of ocular adnexal extranodal marginal zone lymphoma (OAEMZL) are still unknown and the association with Chlamydophila psittaci (C. psittaci ) has been shown in only some geographic regions. Herein, we comprehensively examined the frequency of chromosomal translocations as well as CARD11, MYD88 (L265P), and A20 mutations/deletions in 45 C. psittaci negative OAEMZLs. t(14;18)(q32;q21) IGH‐MALT1 and t(11;18)(q21;q21) API2‐MALT1 were not detected in any of the analyzed tumors while three tumors harbored IGH translocations to an unidentified partner. CARD11 mutations were not found in all analyzed tumors, while the MYD88 L265P mutation was detected in three (6.7%) tumors. A20 mutations and deletions were each detected in seven (15.6%) and six (13.3%) tumors, respectively. Therefore, the observed genetic aberrations could account for the activation of the nuclear factor (NF)‐kB signaling pathway in only a minority of the cases. Further studies are needed to identify the molecular mechanisms underlying the pathogenesis of OAEMZL. Am. J. Hematol. 88:730–735, 2013. © 2013 Wiley Periodicals, Inc.