Clinicopathological and genetic landscape of plasmablastic lymphoma in Taiwan

Bo Jung Chen, Tsung Han Hsieh, Chang Tsu Yuan, Ren Ching Wang, Ching Fen Yang, Wen Yu Chuang, Ying Zhen Su, Chung Han Ho, Chien Hsing Lin, Shih Sung Chuang

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number155059
JournalPathology Research and Practice
Volume253
DOIs
Publication statusPublished - Jan 2024

Keywords

  • EBV
  • Epigenetics
  • HIV
  • JAK-STAT
  • NOTCH
  • Plasmablastic lymphoma
  • RAS-MAPK
  • Taiwan

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cell Biology

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