Genetic abnormalities assist in pathological diagnosis and EBV-positive cell density impact survival in Chinese angioimmunoblastic T-cell lymphoma patients

作者：Yunfei Shi, Haojie Wang, Yanfei Liu, Mengping Long, Ning Ding, Lan Mi, Yumei Lai, Lixin Zhou, Xinting Diao, Xianghong Li, Weiping Liu, Jun Zhu · 发表于：Chinese Journal of Cancer Research · 年份：2023 · DOI：10.21147/j.issn.1000-9604.2023.05.10 · 被引用次数：7 · 研究领域：Vascular Tumors and Angiosarcomas、Lymphoma Diagnosis and Treatment、CNS Lymphoma Diagnosis and Treatment

Objective To explore the application of genetic abnormalities in the diagnosis of angioimmunoblastic T-cell lymphoma (AITL) and the reliable pathological prognostic factors. Methods This study included 53 AITL cases, which were reviewed for morphological patterns, immunophenotypes, presence of Hodgkin and Reed-Sternberg (HRS)-like cells, and co-occurrence of B cell proliferation. The Epstein-Barr virus (EBV)-positive cells in tissues were counted, and cases were classified into “EBV encoded RNA (EBER) high-density” group if >50/HPF. Targeted exome sequencing was performed. Results Mutation data can assist AITL diagnosis: 1) with considerable HRS-like cells (20 cases): RHOA mutated in 14 cases ( IDH2 co-mutated in 3 cases, 4 cases with rare RHOA mutation), TET2 was mutated in 5 cases (1 case co-mutated with DNMT3A ), and DNMT3A mutated in 1 case; 2) accompanied with B cell lymphoma (7 cases): RHOA mutated in 4 cases (1 case had IDH2 mutation), TET2 mutated in 2 cases and DNMT3A mutated in 1 case; 3) mimic peripheral T cell lymphoma, not otherwise specified (5 cases): RHOA mutated in 2 cases ( IDH2 co-mutated in 1 case), TET2 mutated in 3 cases, and DNMT3A mutated in 1 case; 4) pattern 1 (1 case), RHOA and TET2 co-mutated. Besides RHOA G17V (30/35), rare variant included RHOA K18N , RHOA R68H , RHOA C83Y , RHOA D120G and RHOA G17del , IDH2 R172 co-mutated with IDH2 M397V in one case. There were recurrent mutations of FAT3...