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Received:October 12, 2022 Published Online:July 19, 2023
Received:October 12, 2022 Published Online:July 19, 2023
中文摘要: 目的 探讨靶向DNA测序技术在血管免疫母细胞性T细胞淋巴瘤（AITL）患者诊断和治疗中的价值。方法 选择2020年10月至2022年6月首都医科大学宣武医院诊治的4例AITL患者的病理组织，利用石蜡组织基因组DNA提取技术和靶向DNA测序技术测定T细胞肿瘤相关基因突变；回顾性分析患者的临床表现及病理结果，并查阅相关文献。结果 4例老年AITL患者，临床表现完全不同，其中3例患者在病理诊断方面并不顺利，均经过多次或多部位病理切片得以诊断；但4例患者的组织病理二代基因测序（NGS）结果极为相似，均具有RHOAG17V突变和髓系肿瘤中常见的甲基化基因突变，如10-11异位的甲基胞嘧啶双加氧酶2(TET2)、DNA甲基化转移酶3A(DNMT3A)、异柠檬酸脱氢酶(IDH)2。结论 病理组织的靶向DNA测序检查，对于AITL的精确诊断和指导治疗具有重要的意义。
中文关键词: DNA测序 血管免疫母细胞性T细胞淋巴瘤 DNA甲基化 Ras同源基因家族成员A 基因突变
Abstract:Objective To explore the value of targeted DNA sequencing in the diagnosis and treatment of angioimmunoblastic T-cell lymphoma(AITL).
Methods The pathological sections were collected from four patients with AITL diagnosed and treated in Xuanwu Hospital between October 2020 and June 2022, and the mutations in T-cell tumor-related genes were detected by genomic DNA extraction from paraffin-embedded tissue samples and targeted DNA sequencing technology. The clinical manifestations and pathological features were retrospectively analyzed, with a review of relevant literature.
Results
The clinical manifestations of four patients were completely different, and the diagnosis of AITL was confirmed by multi-site and multiple-step sections in three patients. However, the histopathological results of next-generation sequencing(NGS) showed astonishing similarity in four patients, all with RHOAG17V mutations and common gene mutations involving DNA methylation in myeloid tumors, such as TET2, DNMT3A and IDH2.
Conclusion Targeted DNA sequencing of pathological tissues is of great significance for accurate diagnosis and treatment in the patients with AITL.
keywords: DNA sequencing Angioimmunoblastic T-cell lymphoma DNA methylation Ras homolog gene family member A Gene mutation
文章编号： 中图分类号：R733.4 文献标志码：B
基金项目:首都卫生发展科研专项（2022-2-2019）
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