Back to Search
Start Over
Frequent mutations in HLA and related genes in extranodal NK/T cell lymphomas.
- Source :
- Leukemia & Lymphoma; Jan2021, Vol. 62 Issue 1, p95-103, 9p
- Publication Year :
- 2021
-
Abstract
- Extranodal NK/T cell lymphomas (ENKTCLs) are aggressive Epstein–Barr virus-associated T/NK neoplasms that predominantly affect Asians. To explore the causative somatic events, we conducted a comprehensive genetic analysis of 19 ENKTCL patients by whole-genome (N = 2), whole-exome (N = 16), and targeted sequencing (N = 15). Commonly deregulated gene pathways in ENKTCLs included epigenetic modifiers (58%, 11/19) followed by human leukocyte antigens (HLAs) and related genes including HLA-A, B2M, TAP1, CD274, and PDCD1LG2 (32%, 6/19), and JAK-STAT pathway (26%, 5/19). Conspicuously, loss-of-function mutations in HLA-A were recurrently identified in ENKTCLs (16%, 3/19). HLA protein expression was examined by immunohistochemistry in 16 patients and lower expression was associated with advanced stages at presentation (p =.007). In conclusion, the defective antigen presenting pathway is common and related to disease progression, suggesting immune escape as a pathogenic mechanism of ENKTCLs. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10428194
- Volume :
- 62
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Leukemia & Lymphoma
- Publication Type :
- Academic Journal
- Accession number :
- 148039812
- Full Text :
- https://doi.org/10.1080/10428194.2020.1821011