DICER1基因突变甲状腺肿瘤研究进展  

Update on thyroid tumors with DICER1 mutation

作　　者：唐娟 刘志艳 Tang Juan;Liu Zhiyan(Department of Pathology,Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China)

机构地区：[1]上海交通大学医学院附属第六人民医院病理科,上海200233

出　　处：《临床与实验病理学杂志》2025年第1期9-13,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：国家自然科学基金面上项目(82472629);上海市2023年度“科技创新行动计划”自然科学基金(23ZR1448200);上海市2020年度“科技创新行动计划”医学创新研究专项(20Z11900304)。

摘　　要：随着病理医师对DICER1相关甲状腺肿瘤形态特征认识的不断加深,以及多基因检测技术的广泛应用,该类肿瘤的检出率正逐渐提升。良性、低风险和恶性肿瘤中均有可能检测到DICER1突变。特别值得注意的是,胚系突变以及儿童患者的肿瘤往往展现出更强的侵袭性和易复发的特点,因此,准确识别并诊断该类病变显得尤为重要。该文旨在通过系统解读,提升对DICER1突变相关甲状腺肿瘤的认知水平。With the further comprehensive understanding of pathologists in the morphological characteristics of DICER1-related thyroid tumors,and the widespread application of multi-gene detection technology,the detection rate of these tumors is gradually increasing.DICER1 mutations can be detected in benign,low-risk,and malignant thyroid tumors.It is particularly noteworthy that tumors with germline mutations and in pediatric patients often exhibit more aggressive and prone to recurrent.Therefore,it is important to identify and diagnose these lesions.This article summarize the advancements in DICER1 mutation-related thyroid tumors through systematic interpretation.

关 键 词：甲状腺肿瘤 甲状腺滤泡性肿瘤 甲状腺滤泡结节性病变 DICER1综合征 DICER1突变 

分 类 号：R736.1[医药卫生—肿瘤]