Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing

To inform on oncogenic drivers, mutational signatures and perturbed pathways in HGBL-DH/TH in comparison with diffuse large-B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL), we performed whole-exome sequencing and confirmatory deep panel NGS of 47 clinically annotated cases. Coupled germline DNA was analyzed when available.EGA study EGAS00001005420

为解析高级别B细胞淋巴瘤伴双打击/三打击（HGBL-DH/TH）相较于弥漫大B细胞淋巴瘤（DLBCL）与伯基特淋巴瘤（BL）的致癌驱动因子、突变特征及失调通路，我们对47例经临床注释的病例开展了全外显子组测序与验证性深度靶向下一代测序（NGS）。若存在配对生殖系DNA样本，则一并进行分析。本研究为欧洲基因组表型档案（EGA）收录的EGAS00001005420号研究项目。