A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma
Year: 2014
Type: article
Study design: Observational Study
Abstract: The genetic hallmark of Burkitt lymphoma (BL) is the t(8;14)(q24;q32) and its variants leading to activation of the MYC oncogene. It is a matter of debate whether true BL without MYC translocation exists. Here, we identified 59 lymphomas concordantly called BL by 2 gene expression classifiers among 753 B-cell lymphomas. Only 2 (3%) of these 59 molecular BL lacked a MYC translocation, which both shared a peculiar pattern of chromosome 11q aberration characterized by interstitial gains including 11q23.2-q23.3 and telomeric losses of 11q24.1-qter. We extended our analysis to 17 MYC-negative high-grade B-cell lymphomas with a similar 11q aberration and showed this aberration to be recurrently associated with morphologic and clinical features of BL. The minimal region of gain was defined by high-level amplifications in 11q23.3 and associated with overexpression of genes including PAFAH1B2 on a transcriptional and protein level. The recurrent region of loss contained a focal homozygous deletion in 11q24.2-q24.3 including the ETS1 gene, which was shown to be mutated in 4 of 16 investigated cases. These findings indicate the existence of a molecularly distinct subset of B-cell lymphomas reminiscent of BL, which is characterized by deregulation of genes in 11q.
Source: Blood
Authors: Itziar Salaverria, Idoia Martin-Guerrero, Rabea Wagener, Markus Kreuz, Christian W. Kohler, Julia Richter, Barbara Pienkowska-Grela, Patrick Adam, Birgit Burkhardt, Alexander Claviez, Christine Damm-Welk, Hans G. Drexler, Michael Hummel, Elaine S. Jaffe, Ralf Küppers, Christine Lefebvre, Jasmin Lisfeld, Markus Löffler, Roderick A. F. Macleod, Inga Nagel, Ilske Oschlies, Maciej Rosolowski, Robert B. Russell, Grzegorz Rymkiewicz, Detlev Schindler, Matthias Schlesner, René Scholtysik, Carsten Schwaenen, Rainer Spang, Monika Szczepanowski, Lorenz Trümper, Inga Vater, Swen Wessendorf, Wolfram Klapper, Reiner Siebert
Institutions: Christian-Albrechts-Universität zu Kiel, University Hospital Schleswig-Holstein, Hospital Clínic de Barcelona, Universitat de Barcelona, University of the Basque Country, Leipzig University, University of Regensburg, The Maria Sklodowska-Curie National Research Institute of Oncology, University of Tübingen, University of Münster, University Hospital Münster, Justus-Liebig-Universität Gießen, Leibniz Institute DSMZ – German Collection of Microorganisms and Cell Cultures, Charité – Universitätsmedizin Berlin, National Institutes of Health, National Cancer Institute, Center for Cancer Research, University of Duisburg-Essen, Heidelberg University, University of Würzburg, German Cancer Research Center, Klinikum Esslingen, University of Göttingen
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2052284649
