title: Molecular and genomic aberrations in Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas.
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 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.
authors.affiliation: Division of Hematology-Oncology, Department of Medicine, Sylvester Comprehensive Cancer Center, University of Miami, FL 33136, USA.
authors.forename: Daxing
authors.initials: D
authors.lastname: Zhu
authors.forename: Offiong F
authors.initials: OF
authors.lastname: Ikpatt
authors.forename: Sander R
authors.initials: SR
authors.lastname: Dubovy
authors.forename: Chen
authors.initials: C
authors.lastname: Lossos
authors.forename: Yasodha
authors.initials: Y
authors.lastname: Natkunam
authors.forename: Jennifer R
authors.initials: JR
authors.lastname: Chapman-Fredricks
authors.forename: Yao-Shan
authors.initials: YS
authors.lastname: Fan
authors.forename: Izidore S
authors.initials: IS
authors.lastname: Lossos
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics* / Q000378:metabolism; D002691:Chlamydophila psittaci; D003228:Conjunctiva / Q000378:metabolism / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005134:Eye Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006162:Guanylate Cyclase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D007765:Lacrimal Apparatus / Q000378:metabolism / Q000473:pathology; D018442:Lymphoma, B-Cell, Marginal Zone / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics* / Q000378:metabolism; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D009915:Orbit / Q000378:metabolism / Q000473:pathology; D014178:Translocation, Genetic; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
chemical_list: D053468:CARD Signaling Adaptor Proteins; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3; C426242:CARD11 protein, human; D006162:Guanylate Cyclase