应用二代测序技术对甲状腺乳头状癌突变基因谱及临床特征相关性的研究  

Mutation gene profiling and its correlation with clinical characteristics of thyroid papillary carcinoma by next-generation sequencing technology

作　　者：孟甦 陈萍 杨志学[1] 魏金荣[1] 陈楠 伍燕琳 赵生斌 周素娟 蒋国勤 Meng Su;Chen Ping;Yang Zhixue;Wei Jinrong;Chen Nan;Wu Yanlin;Zhao Shengbin;Zhou Sujuan;Jiang Guoqin(Department of Thyroid and Breast,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China;Suzhou Sano Precision Medicine Ltd,Suzhou 215124,China;Soochow University Medical College,Suzhou 215006,China)

机构地区：[1]苏州大学第二附属医院甲乳外科,215004 [2]苏州精准医疗科技有限公司,215124 [3]苏州大学医学部,215006

出　　处：《中华实验外科杂志》2022年第7期1349-1351,共3页Chinese Journal of Experimental Surgery

基　　金：国家自然基金面上项目(81873730);苏州市"科教兴卫"青年科技项目(KJXW2021017);苏州大学第二附属医院优势临床学科群项目(XKTJ-XK202009)。

摘　　要：目的分析甲状腺乳头状癌组织标本的分子特征,探究其基因突变谱与其临床特征的相关性。方法收集2020年7月至2021年5月于苏州大学附属第二医院手术且病理确认为甲状腺乳头状癌的71例患者(共79份)新鲜肿瘤组织标本,并统计其临床及病理学资料。应用二代测序技术对肿瘤组织标本进行检测,研究其病理性突变基因特征,并使用Fisher精确概率检验方法分析其与临床病理特征之间的相关性。结果95%的新鲜肿瘤组织标本被检测到不同的病理性突变或融合,15%的新鲜肿瘤组织标本存在至少2种不同的病理性基因共突变或融合;甲状腺乳头状癌患者中,有病理性突变或融合组的中央组淋巴结转移率明显高于无病理性突变或融合组(62.7%比0,P<0.05)。结论具有病理性基因突变或融合的患者更容易出现中央组淋巴结转移,据此我们认为术前对肿瘤组织进行二代测序分析其分子特征有利于准确判断中央组淋巴结转移情况、方便制定精准的手术方案。Objective To analyze the molecular characteristics of papillary thyroid carcinoma tissue samples and explore the correlation between gene mutation spectrum and clinical features.Methods A total of 79 fresh tumor tissue samples were collected from 71 patients with thyroid papillary carcinoma who underwent surgery in the Second Affiliated Hospital of Soochow University from July 2020 to May 2021.Fisher’s precision probability test was used to analyze its correlation with clinicopathological features.Results Different pathological mutations or fusions were detected in 95%of fresh tumor tissue samples,and at least two different pathological gene co-mutations or fusions were found in 15%of fresh tumor tissue samples.Among patients with papillary thyroid carcinoma,the rate of central lymph node metastasis in patients with pathological mutation or fusion was significantly higher than that in patients without pathological mutation or fusion(62.7%to 0,P<0.05).Conclusion Thyroid papillary carcinoma patients with pathological gene mutation or fusion are more prone to the central lymph node metastasis,hereby we think preoperative tumor tissues for next-generation sequencing analysis is helpful to accurately judge the central lymph node metastasis and convenient making precise surgical plan.

关 键 词：甲状腺癌 基因突变 基因融合 二代测序 临床特征 

分 类 号：R736.1[医药卫生—肿瘤]