儿童、青少年和年轻人 (CAYA) 的侵袭性 B 细胞非霍奇金淋巴瘤 (NHL) 包括伯基特淋巴瘤 (BL)、弥漫性大 B 细胞淋巴瘤 (DLBCL) 以及具有中等特征的高级肿瘤子集这些实体之间的遗传和分子谱尚未完全阐明。在本研究中，我们使用靶向下一代测序和侵袭性淋巴瘤基因表达生发中心 B- 鉴定了 CAYA 中的 37 例侵袭性 B-NHL，其中 33 例具有高级形态，以及 4 例具有 MYC 重排 (MYC-R) 的 DLBCL。细胞样 (GCB)、激活的 B 细胞样 (ABC) 和暗区特征 (DZsig)。 22 个肿瘤具有 MYC-R，但没有 BCL2 断裂，两个 MYC-non-R 病例具有 BCL6 易位。 MYC-R 病例，包括 DLBCL，携带 BL 相关突变和拷贝数改变。相反，MYC-non-R 淋巴瘤的 B 细胞受体信号/NF-κB 通路发生改变 (71%)。 DZsig 在 12/13 的 MYC-R 肿瘤中表达，但仅在 2/10 的 MYC-non-R GCB 肿瘤中表达（P<0.001）。整个队列的 3 年无事件生存率 (EFS) 为 79.6%。 TP53 和 KMT2C 突变导致较差的结果（3 年 EFS P < 0.05）。总体而言，CAYA 中的 MYC-R 淋巴瘤无论其高级别或 DLBCL 形态如何，都具有与 BL 相似的分子特征，而 MYC-non-R 具有更接近 DLBCL 的异质性遗传改变。© 2024。 。

Aggressive B-cell non-Hodgkin lymphomas (NHL) in children, adolescents, and young adults (CAYA) include Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and a subset of high-grade tumors with features intermediate between these entities whose genetic and molecular profiles have not been completely elucidated. In this study, we have characterized 37 aggressive B-NHL in CAYA, 33 with high-grade morphology, and 4 DLBCL with MYC rearrangement (MYC-R), using targeted next-generation sequencing and the aggressive lymphoma gene expression germinal center B-cell-like (GCB), activated B-cell-like (ABC), and dark zone signatures (DZsig). Twenty-two tumors had MYC-R without BCL2 breaks, and two MYC-non-R cases had BCL6 translocations. MYC-R cases, including DLBCL, carried BL-related mutations and copy number alterations. Conversely, MYC-non-R lymphomas had alterations in the B-cell receptor signaling/NF-κB pathway (71%). DZsig was expressed in 12/13 of MYC-R tumors but only in 2/10 of MYC-non-R GCB tumors (P < 0.001). The 3-year event-free survival (EFS) of the whole cohort was 79.6%. TP53 and KMT2C mutations conferred inferior outcome (3-year EFS P < 0.05). Overall, MYC-R lymphomas in CAYA have a molecular profile similar to BL regardless of their high-grade or DLBCL morphology, whereas MYC-non-R has more heterogeneous genetic alterations closer to that of DLBCL.© 2024. The Author(s).