Original ArticlesIG/MYC Rearrangements are the Main Cytogenetic Alteration in Plasmablastic LymphomasValera, Alexandra BSc*; Balagué, Olga MD*; Colomo, Luis MD*; Martínez, Antonio MD*; Delabie, Jan MD†; Taddesse-Heath, Lekidelu MD‡; Jaffe, Elaine S. MD§; Campo, Elías MD*Author Information *Hematopathology Section, Laboratory of Pathology, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain †Department of Pathology, Rikshospitalet-Radiumhospitalet HF, University of Oslo, Oslo, Norway ‡Department of Pathology, Howard University Hospital, Washington, DC §Department of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD This study was supported by the Spanish Ministry of Science and Innovation SAF2008/3630, the Instituto de Salud Carlos III “Red Temática de Investigación Cooperativa de Cancer” RD07/0020/2004, Asociación Española Contra el Cáncer AECC_07_011 and Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias PI080095. Correspondence: Lluís Colomo, MD, Hematopathology Section, Hospital Clínic, Villarroel 170, 08036-Barcelona, Barcelona, Spain (e-mail: [email protected]). Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website, www.ajsp.com. No conflicts of interest were declared. The American Journal of Surgical Pathology: November 2010 - Volume 34 - Issue 11 - p 1686-1694 doi: 10.1097/PAS.0b013e3181f3e29f Buy SDC Metrics AbstractIn Brief Plasmablastic lymphoma (PBL) is an aggressive lymphoma characterized by a terminally differentiated B-cell phenotype that usually occurs in the immunocompromised or elderly patients. Although the clinical and pathologic characteristics of these tumors have been defined, the genetic alterations involved in their pathogenesis are not well known. In this study, we have investigated the chromosomal alterations of MYC, BCL2, BCL6, MALT1, PAX5, and IGH loci using fluorescence in situ hybridization in 42 PBL and 3 extracavitary primary effusion lymphomas. MYC rearrangements were identified in 20 of 41 (49%) PBL and the immunoglobulin (IG) genes were the partners in most tumors. MYC rearrangements were more common in Epstein-Barr virus (EBV)-positive (14 of 19, 74%) than EBV-negative (9 of 21, 43%) tumors (P<0.05). No rearrangements of BCL2, BCL6, MALT1, or PAX5 were detected in any PBL but gains of these loci were observed in 31% to 41% of the cases examined. Twelve of the 40 PBL in which 3 or more loci could be investigated had multiple simultaneous gains in 3 or more loci. No differences in the survival of the patients according to MYC were observed but the 4 patients with the longest survival (>50 mo) had no or low number of gains (<3). No rearrangements of any of these loci were seen in the primary effusion lymphomas. In conclusion, PBL are genetically characterized by frequent IG/MYC translocations and gains in multiple chromosomal loci. The oncogenic activation of MYC in these lymphomas may be an important pathogenetic element associated with EBV infection. Supplemental Digital Content is available in the article © 2010 Lippincott Williams & Wilkins, Inc.