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

doi:10.1016/j.prp.2023.155059

Clinicopathological and genetic landscape of plasmablastic lymphoma in Taiwan

Pathol Res Pract. 2024 Jan:253:155059. doi: 10.1016/j.prp.2023.155059. Epub 2023 Dec 24.

Authors

Affiliations

¹ 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.
² Joint Biobank, Office of Human Research, Taipei Medical University, Taipei, Taiwan.
³ Department of Pathology, National Taiwan University Cancer Center, Taipei, Taiwan; Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan; Graduate Institute of Clinical Medicine, National Taiwan University, Taipei, Taiwan.
⁴ Department of Pathology, China Medical University Hospital, Taichung, Taiwan.
⁵ Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁶ School of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Anatomic Pathology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
⁷ Department of Pathology, Chi-Mei Medical Center, Tainan, Taiwan.
⁸ Department of Medical Research, Chi-Mei Medical Center, Tainan, Taiwan; Department of Information Management, Southern Taiwan University of Science and Technology, Tainan, Taiwan.
⁹ Taiwan Genomic Industry Alliance Inc., Taiwan.
¹⁰ Department of Pathology, Chi-Mei Medical Center, Tainan, Taiwan. Electronic address: cmh5301@mail.chimei.org.tw.

PMID: 38160484
DOI: 10.1016/j.prp.2023.155059

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.

Keywords: EBV; Epigenetics; HIV; JAK-STAT; NOTCH; Plasmablastic lymphoma; RAS-MAPK; Taiwan.

MeSH terms

Epigenesis, Genetic
HIV Infections*
Humans
In Situ Hybridization, Fluorescence
Plasmablastic Lymphoma* / genetics
Plasmablastic Lymphoma* / pathology
Retrospective Studies
Taiwan