title: Dominant genetic aberrations and coexistent EBV infection in HIV-related oral plasmablastic lymphomas.
abstract: We present common cytogenetic features in the largest cohort of plasmablastic lymphoma (PBL) of the oral cavity published to date. This cohort included 45 patients, 32 of whom had a known HIV status, of which 31 were HIV positive. Ninety eight per cent of all PBL cases were known to be EBV positive. In line with previous studies, we found that rearrangements of the MYC gene was the most common genetic abnormality seen in 60% of cases with the immunoglobulin heavy chain (IGH) locus as a partner in 51% of cases. Additional complex genetic aberrations were frequent, in particular, an increased copy number of the CCND1 gene was seen in 41% of cases with true amplification of CCND1 in 15% of cases. Aneuploidy was also observed for the BCL6 gene in 28% of cases. Interestingly, rearrangements of both IGH genes were detected in 16% of cases with t(14;18) and t(11;14) respectively involved in conjunction with a t(8;14) in two cases. These bi-allelic IGH rearrangements have not been described before in oral PBL. Our results reinforce the notion that EBV infection and MYC rearrangements are important events in the pathogenesis of oral PBL. The genetic diversity and complexity observed in these cases, underlines the importance to genetically characterise PBL patients at presentation as this may inform the choice of more effective treatment modalities.
authors.affiliation: Department of Oral Pathology and Oral Biology, School of Dentistry, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa. sonja.boy@up.ac.za
authors.forename: Sonja C
authors.initials: SC
authors.lastname: Boy
authors.forename: Marlene B
authors.initials: MB
authors.lastname: van Heerden
authors.forename: Chantal
authors.initials: C
authors.lastname: Babb
authors.forename: Willie F
authors.initials: WF
authors.lastname: van Heerden
authors.forename: Pascale
authors.initials: P
authors.lastname: Willem
mesh_terms: D000328:Adult; D000782:Aneuploidy; D015331:Cohort Studies; D019938:Cyclin D1 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D020031:Epstein-Barr Virus Infections / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D016259:Genes, myc / Q000235:genetics; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D016483:Lymphoma, AIDS-Related / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics* / Q000821:virology; D051560:Proto-Oncogene Proteins c-bcl-6
chemical_list: C084103:BCL6 protein, human; C530104:CCND1 protein, human; D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; D051560:Proto-Oncogene Proteins c-bcl-6; D019938:Cyclin D1