Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.
Details
Serval ID
serval:BIB_206DA0AB35EA
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.
Journal
Cancer research
ISSN
1538-7445 (Electronic)
ISSN-L
0008-5472
Publication state
Published
Issued date
02/07/2024
Peer-reviewed
Oui
Volume
84
Number
13
Pages
2181-2201
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
Extranodal NK/T-cell lymphoma (ENKTCL) is an Epstein-Barr virus (EBV)-related neoplasm with male dominance and a poor prognosis. A better understanding of the genetic alterations and their functional roles in ENKTCL could help improve patient stratification and treatments. In this study, we performed a comprehensive genetic analysis of 178 ENKTCL cases to delineate the landscape of mutations, copy number alterations (CNA), and structural variations, identifying 34 driver genes including six previously unappreciated ones, namely, HLA-B, HLA-C, ROBO1, CD58, POT1, and MAP2K1. Among them, CD274 (24%) was the most frequently altered, followed by TP53 (20%), CDKN2A (19%), ARID1A (15%), HLA-A (15%), BCOR (14%), and MSN (14%). Chromosome X losses were the most common arm-level CNAs in females (∼40%), and alterations of four X-linked driver genes (MSN, BCOR, DDX3X, and KDM6A) were more frequent in males and females harboring chromosome X losses. Among X-linked drivers, MSN was the most recurrently altered, and its expression was lost in approximately one-third of cases using immunohistochemical analysis. Functional studies of human cell lines showed that MSN disruption promoted cell proliferation and NF-κB activation. Moreover, MSN inactivation increased sensitivity to NF-κB inhibition in vitro and in vivo. In addition, recurrent deletions were observed at the origin of replication in the EBV genome (6%). Finally, by integrating the 34 drivers and 19 significant arm-level CNAs, nonnegative matrix factorization and consensus clustering identified two molecular groups with different genetic features and prognoses irrespective of clinical prognostic factors. Together, these findings could help improve diagnostic and therapeutic strategies in ENKTCL. Significance: Integrative genetic analyses and functional studies in extranodal NK/T-cell lymphoma identify frequent disruptions of X-linked drivers, reveal prognostic molecular subgroups, and uncover recurrent MSN alterations that confer sensitivity to NF-κB inhibition.
Keywords
Humans, Male, Female, Chromosomes, Human, X/genetics, Lymphoma, Extranodal NK-T-Cell/genetics, Lymphoma, Extranodal NK-T-Cell/virology, Lymphoma, Extranodal NK-T-Cell/pathology, Lymphoma, Extranodal NK-T-Cell/metabolism, DNA Copy Number Variations, Mutation, Middle Aged, Animals, Adult, Mice, Prognosis, Aged, Gene Expression Profiling, Cell Line, Tumor, Gene Expression Regulation, Neoplastic, Young Adult, Epstein-Barr Virus Infections/genetics, Epstein-Barr Virus Infections/virology, Epstein-Barr Virus Infections/complications
Pubmed
Web of science
Create date
29/04/2024 8:19
Last modification date
06/08/2024 6:02