血管免疫母细胞性T细胞淋巴瘤75例基因突变特征分析

Mutation characteristics of angioimmunoblastic T-cell lymphoma: an analysis of 75 cases

目的:探讨血管免疫母细胞性T细胞淋巴瘤(angioimmunoblastic T-cell lymphoma,AITL)的基因突变特征。方法:收集2021年6月至2023年6月经上海交通大学医学院附属瑞金医院病理科诊断为AITL,并用石蜡包埋组织或新鲜组织进行靶向测序检测的75例病例资料,分析AITL患者的突变基因分布和突变类型。结果:在75例AITL标本中均检测出基因突变,共检测到492个变异位点,分别位于84个基因列表中的74个基因。在≥10%的AITL病例中检测到的突变基因依次是TET2(89.3%)、RHOA(57.3%)、IDH2(37.3%)、DNMT3A(36.0%)、KMT2C(21.3%)、PLCG1(12.0%)和KDM6B(10.7%)。TET2和RHOA、TET2和IDH2、RHOA和IDH2基因突变之间均具有显著的共现关系(P<0.05),TET2和KDM6B基因突变之间具有显著的互斥关系(P<0.05)。结论:应用二代测序技术可揭示AITL基因突变的独特特征,为AITL的诊断和靶向治疗提供参考依据。

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.