Publikation
A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma
Wissenschaftlicher Artikel/Review - 07.01.2014
Salaverria Itziar, Oschlies Ilske, Rosolowski Maciej, Russell Robert B, Rymkiewicz Grzegorz, Schindler Detlev, Schlesner Matthias, Scholtysik René, Schwaenen Carsten, Spang Rainer, Szczepanowski Monika, Trümper Lorenz, Vater Inga, Wessendorf Swen, Klapper Wolfram, Siebert Reiner, Molecular Mechanisms in Malignant Lymphoma Network Project, Nagel Inga, Macleod Roderick A F, Löffler Markus, Martin-Guerrero Idoia, Wagener Rabea, Kreuz Markus, Kohler Christian W, Richter Julia, Pienkowska-Grela Barbara, Adam Patrick, Burkhardt Birgit, Claviez Alexander, Damm-Welk Christine, Drexler Hans G, Hummel Michael, Jaffe Elaine S, Küppers Ralf, Lefebvre Christine, Lisfeld Jasmin, Berlin-Frankfurt-Münster Non-Hodgkin Lymphoma Group
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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.