RAS突变型甲状腺肿瘤的临床病理特征:单中心分析  

Clinicopathologic features of RAS gene mutant thyroid tumors:an analysis of single institution

作　　者：赵骞 周隽 王程隆 孙可洋 苏旭玲 刘志艳 ZHAO Qian;ZHOU Jun;WANG Chenglong;SUN Keyang;SU Xuling;LIU Zhiyan(Department of Pathology,Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,P.R.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：《中国普外基础与临床杂志》2024年第11期1307-1312,共6页Chinese Journal of Bases and Clinics In General Surgery

基　　金：国家自然科学基金资助项目(项目编号:82472629);上海市科技计划项目(项目编号:23ZR1448200);上海市2020年度“科技创新行动计划”医学创新研究专项(项目编号:20Z11900304);上海市卫生健康委员会2021年度卫生行业临床研究专项(项目编号:202140364)。

摘　　要：目的 分析RAS基因突变型甲状腺肿瘤的临床病理特征。方法 回顾性收集上海交通大学医学院附属第六人民医院2021年1月至2023年6月期间收治且经组织病理确诊的甲状腺肿瘤患者的临床病理资料。结果 共收集到符合纳入标准的798例甲状腺肿瘤患者,其中包括747例滤泡上皮源性肿瘤和51例甲状腺髓样癌。798例患者中有36例(4.5%)检测出RAS基因突变,其中NRAS突变25例(69.4%)、HRAS突变8例(22.2%)、KRAS突变3例(8.3%),4例(1.1%)合并TERT启动子突变。36例RAS基因突变型甲状腺肿瘤患者中男∶女为7∶11,中位年龄48.5岁,肿瘤平均直径2 cm。不同组织学类型甲状腺肿瘤中RAS基因突变率从高到低依次是:甲状腺滤泡癌中最高(25.9%),其后依次是高级别分化型甲状腺癌(20.0%)、甲状腺间变性癌(20.0%)、具有乳头样核特征的非浸润性甲状腺滤泡性肿瘤(18.2%)、滤泡亚型甲状腺乳头状癌(16.0%)及恶性潜能未定的甲状腺高分化肿瘤(12.8%),且甲状腺滤泡癌、滤泡亚型甲状腺乳头状癌及恶性潜能未定的甲状腺高分化肿瘤的RAS基因突变率均高于经典型甲状腺乳头状癌(均P<0.001 1),经典型甲状腺乳头状癌最低(1.5%)。随访至2024年3月,有效随访35例患者,平均随访时间21.4个月,6例患者发现颈部淋巴结转移,4例患者发生远处转移,1例甲状腺间变性癌患者死亡。结论 RAS基因突变在甲状腺滤泡分化肿瘤和甲状腺髓样癌中均可发生,以NRAS基因突变最为常见。RAS基因突变率在甲状腺滤泡癌中最高,在经典型甲状腺乳头状癌中最低,鉴别诊断和治疗时结合组织形态以及其他分子改变综合考虑,可为指导治疗和评估预后提供参考依据。Objective To analyze the clinicopathologic features of thyroid tumors with RAS gene mutation.Method The clinicopathologic data of thyroid tumor patients who underwent surgical treatment or biopsy and were diagnosed pathologically at the Department of Pathology of the Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 2021 to June 2023,were collected.Results A total of 798 patients with thyroid tumors who met the inclusion criteria were collected,including 747 cases of follicular epithelial tumors and 51 cases of medullary thyroid carcinoma(MTC).Among 798 patients,the RAS gene mutations were detected in 36 cases(4.5%),including 25(69.4%)patients with NRAS mutations,8(22.2%)patients with HRAS mutations,3(8.3%)patients with KRAS mutations,and 4(1.1%)patients accompanied with TERT promoter mutations.Among 36 patients with RAS mutant thyroid tumors,the male to female ratio was 7∶11,with a median age of 48.5 years,with an average tumor diameter of 2 cm.The mutation rate of RAS gene in different histological types of thyroid tumors,from high to low,was highest in the thyroid follicular carcinoma(FTC,25.9%),followed by differentiated high grade thyroid carcinoma (20.0%), anaplastic thyroid carcinoma (20.0%), noninvasive follicular thyroid neoplasm with papillary like nuclear features(18.2%), follicular variant of papillary thyroid carcinoma (FVPTC, 16.0%), and well-differentiated thyroid tumour ofuncertain malignant potential (WT-UMP, 12.8%), the mutation rates of RAS gene in the FTC, FVPTC, and WT-UMPwere significantly higher than that of the classical papillary thyroid carcinoma (P<0.001 1), and the mutation rate of RASgene was the lowest in the classical papillary thyroid carcinoma (1.5%). A total of 35 patients were effectively followed upwith an average follow-up period of 21.4 months, 6 of whom had cervical lymph node metastasis, 4 patients developeddistant metastasis, and 1 patient with anaplastic thyroid carcinoma died. Conclusions RAS gene mutation ca

关 键 词：甲状腺肿瘤 RAS基因突变 临床病理特征 

分 类 号：R736.1[医药卫生—肿瘤]