Molecular and genomic aberrations in Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas AMERICAN JOURNAL OF HEMATOLOGY Zhu, D., Ikpatt, O. F., Dubovy, S. R., Lossos, C., Natkunam, Y., Chapman-Fredricks, J. R., Fan, Y., Lossos, I. S. 2013; 88 (9): 730-735

Abstract

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 3 tumors harbored IGH translocations to an unidentified partner. CARD11 mutations were not found in all the analyzed tumors while MYD88 L265P mutation was detected in 3 (6.7%) tumors. A20 mutations and deletions were each detected in 7(15.6%) and 6(13.3%) of the tumors, respectively. Therefore, the observed genetic aberrations could account for the activation of 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.

View details for DOI 10.1002/ajh.23490

View details for Web of Science ID 000323313500002

View details for PubMedID 23720088