Mutation characteristics of angioimmunoblastic T-cell lymphoma: an analysis of 75 cases
10.3760/cma.j.cn112151-20230823-00089
- VernacularTitle:血管免疫母细胞性T细胞淋巴瘤75例基因突变特征分析
- Author:
Xia SHEN
1
;
Hongmei YI
;
Anqi LI
;
Binshen OUYANG
;
Lei DONG
;
Chaofu WANG
Author Information
1. 上海交通大学医学院附属瑞金医院病理科，上海 200025
- Keywords:
Lymphoma, T-cell;
DNA mutational analysis;
Next generation sequencin
- From:
Chinese Journal of Pathology
2024;53(1):29-33
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the characteristics of gene mutations in angioimmunoblastic T-cell lymphoma (AITL).Methods:Seventy-five AITL cases diagnosed at the Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from June 2021 to June 2023 were included. Their formalin-fixed and paraffin-embedded or fresh tissues were subject to targeted next generation sequencing (NGS). The sequencing data was collected, and the distribution and type of gene mutations were analyzed.Results:492 potential driver mutations were identified in 74 out of the 84 genes. Targeted sequencing data for the 75 AITL patients showed that the genes with mutation frequencies of ≥10% were TET2 (89.3%), RHOA (57.3%), IDH2 (37.3%), DNMT3A (36.0%), KMT2C (21.3%), PLCG1 (12.0%), and KDM6B (10.7%). There were significant co-occurrence relationships between TET2 and RHOA, TET2 and IDH2, and RHOA and IDH2 gene mutations ( P<0.05), respectively, while TET2 and KDM6B gene mutations were mutually exclusive ( P<0.05). Conclusions:The study reveals the mutational characteristics of AITL patients using NGS technology, which would provide insights for molecular diagnosis and targeted therapy of AITL.
