A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma

作者：Salaverria Itziar^*; 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; Kueppers Ralf; Lefebvre Christine; Lisfeld Jasmin; Loeffler Markus; Macleod Roderick A F; Nagel Inga; Oschlies Ilske; Rosolowski Maciej; Russell Robert B; Rymkiewicz Grzegorz; Schindler Detlev; Schlesner Matthias

来源：Blood, 2014, 123(8): 1187-1198.

DOI：10.1182/blood-2013-06-507996

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. Only2 (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.

• 出版日期2014-2-20
• 单位河北医科大学