Department of Pathology, Shuang Ho Hospital, Taipei Medical University, New Taipei, Taiwan; Department of Pathology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
Joint Biobank, Office of Human Research, Taipei Medical University, Taipei, Taiwan.
Pathol Res Pract. 2024 Jan;253:155059. doi: 10.1016/j.prp.2023.155059. Epub 2023 Dec 24.
Plasmablastic lymphoma (PBL) is an aggressive large B-cell lymphoma with a terminal B-cell differentiation phenotype and is frequently associated with immunodeficiency. We aimed to investigate the clinicopathological and immunophenotypic features, genetic alterations, and mutational landscape of PBL in Taiwan. We retrospectively recruited 26 cases. Five (5/18; 28%) patients were HIV-positive and 21 (81%) presented extranodally. There were two morphological groups: one with purely monomorphic large cells (85%) and the other comprising large cells admixed with plasmacytic cells (15%). Phenotypically, the tumors expressed MYC (8/10; 80%), CD138 (20/26; 77%), and MUM1 (20/20; 100%), but not CD20 (n = 26; 0%). Fourteen (54%) cases were positive for EBV by in situ hybridization; the EBV-positive cases were more frequently HIV infected (p = 0.036), with extranodal presentation (p = 0.012) and CD79a expression (p = 0.012), but less frequent light chain restriction (p = 0.029). Using fluorescence in situ hybridization, we identified 13q14 deletion, MYC rearrangement, and CCND1 rearrangement in 74%, 30%, and 5% cases, respectively, without any cases having rearranged BCL6 or IGH::FGFR3 fusion. In the 15 cases with adequate tissue for whole exome sequencing, the most frequent recurrent mutations were STAT3 (40%), NRAS (27%), and KRAS (20%). In conclusion, most PBL cases in Taiwan were HIV-unrelated. Around half of the cases were positive for EBV, with distinct clinicopathological features. Deletion of chromosome 13q14 was frequent. The PBL cases in Taiwan showed recurrent mutations involving JAK-STAT, RAS-MAPK, epigenetic regulation, and NOTCH signaling pathways, findings similar to that from the West.
浆母细胞淋巴瘤（PBL）是一种具有终末 B 细胞分化表型的侵袭性大 B 细胞淋巴瘤，常与免疫缺陷有关。本研究旨在探讨台湾地区 PBL 的临床病理和免疫表型特征、遗传学改变及突变特征。我们回顾性招募了 26 例患者。5 例（5/18；28%）患者 HIV 阳性，21 例（81%）表现为结外受累。存在两种形态学分组：单纯单形性大细胞（85%）和大细胞混合浆细胞（15%）。表型上，肿瘤表达 MYC（8/10；80%）、CD138（20/26；77%）和 MUM1（20/20；100%），但不表达 CD20（n=26；0%）。14 例（54%）经原位杂交检测 EBV 阳性；EBV 阳性病例更常 HIV 感染（p=0.036），更常结外受累（p=0.012）和 CD79a 表达（p=0.012），但轻链受限较少（p=0.029）。应用荧光原位杂交技术，我们分别在 74%、30%和 5%的病例中发现 13q14 缺失、MYC 重排和 CCND1 重排，而没有任何病例出现 BCL6 重排或 IGH::FGFR3 融合。在 15 例有足够组织进行全外显子组测序的病例中，最常见的复发性突变是 STAT3（40%）、NRAS（27%）和 KRAS（20%）。总之，台湾地区大多数 PBL 病例与 HIV 无关。大约一半的病例 EBV 阳性，具有明显的临床病理特征。13q14 缺失较为常见。台湾地区的 PBL 病例显示涉及 JAK-STAT、RAS-MAPK、表观遗传调控和 NOTCH 信号通路的复发性突变，与西方报道相似。
