DUSP22-rearranged primary cutaneous CD30-positive T-cell lymphoproliferative disorders and adult T-cell leukemia/lymphoma frequently share the LEF1+/TIA1- immunophenotype.

Autor: Chen BJ; Department of Pathology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, 23561, Taiwan; Department of Pathology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, 110, Taiwan. Electronic address: b8801061@gmail.com., Hsieh SM; Department of Clinical Pathology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, 23561, Taiwan. Electronic address: 13464@s.tmu.edu.tw., Hsieh TH; Joint Biobank, Office of Human Research, Taipei Medical University, Taipei, 110, Taiwan. Electronic address: thhsieh@tmu.edu.tw., Jhuang JY; Department of Pathology, MacKay Memorial Hospital, Taipei, 10449, Taiwan; Department of Medicine, School of Medicine, MacKay Medical College, New Taipei City, 252, Taiwan. Electronic address: superelud@gmail.com., Kao YC; Department of Pathology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, 110, Taiwan; Department of Pathology, Taipei Medical University Hospital, Taipei, 110, Taiwan; Department of Pathology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, 704, Taiwan. Electronic address: capri881@yahoo.com.tw.
Jazyk: angličtina
Zdroj: Human pathology [Hum Pathol] 2024 Aug; Vol. 150, pp. 58-66. Date of Electronic Publication: 2024 Jul 04.
DOI: 10.1016/j.humpath.2024.07.002
Abstrakt: DUSP22 rearrangements are genetic alterations observed in a subset of systemic anaplastic large cell lymphoma (S-ALCL), primary cutaneous anaplastic large cell lymphoma (C-ALCL), and lymphomatoid papulosis (LyP). Previous investigations have shown that the LEF1+/TIA1- immunoprofile and MSC E116K mutations are highly associated with DUSP22 rearrangement in ALCL. However, the existing literature primarily focuses on S-ALCL. Our understanding of the LEF1/TIA1 immunoprofile and MSC mutation status in C-ALCL/LyP is still limited. In this study, we aimed to assess LEF1/TIA1 expression and MSC mutations in a cohort of 23 C-ALCL/LyP cases, along with a control group of histological mimickers. DUSP22 rearrangements were detected by fluorescence in situ hybridization in eight cases (6/10 C-ALCL, 2/13 LyP). We found LEF1 expression in five out of eight (63%) DUSP22-rearranged cases (3/6 C-ALCL, 2/2 LyP), and none of the 15 cases lacking DUSP22 rearrangements. Furthermore, we also found frequent LEF1 expression in adult T-cell leukemia/lymphoma (ATLL; 10 of 11, 91%) within the control group. TIA1 expression was consistently negative in all DUSP22-rearranged C-ALCL/LyP and ATLL cases tested. MCS E116K mutation was identified in one of five DUSP22-rearranged C-ALCL cases. RNA sequencing of a DUSP22-rearranged C-ALCL revealed a novel DUSP22::SNHG fusion coexisting with a CD58::WNT2B fusion. In conclusion, our findings demonstrated a lower rate of LEF1 expression in DUSP22-rearranged C-ALCL/LyP compared to previous reports that predominantly focused on S-ALCL. Moreover, we observed that the majority of ATLL cases also expressed LEF1, suggesting that the LEF1+/TIA1- immunoprofile does not differentiate DUSP22-rearranged C-ALCL/LyP from ATLL.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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