甲状腺癌患者BRAF V600E基因突变与民族及临床病理特征的关系  

Relationship of BRAF V600E gene mutation and nationality and clinicopathological characteristics in thyroid cancer

作　　者：刘超宇 黄林达 马燕飞[4] 潘秀虹 朱晓莹 LIU Chaoyu;HUANG Linda;MA Yanfei;PAN Xiuhong;ZHU Xiaoying(Clinical Pathology Diagnosis and Research Center,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise,Guangxi 533000,China;Guangxi Key Laboratory of Molecular Pathology of Hepatobiliary Diseases,Baise,Guangxi 533000,China;Guangxi University Key Laboratory of Tumor Molecular Pathology,Baise,Guangxi 533000,China;Department of Extracorporeal Gland,Affiliated Hospital of Youjiang Medical College for Nationalities,Baise,Guangxi 533000,China;Department of Hematology,Affiliated Hospital of Youjiang Medical College for Nationalities,Baise,Guangxi 533000,China)

机构地区：[1]右江民族医学院附属医院临床病理诊断与研究中心,广西百色533000 [2]广西肝胆疾病分子病理学重点实验室,广西百色533000 [3]广西高校肿瘤分子病理学重点实验室,广西百色533000 [4]右江民族医学院附属医院腺体外科,广西百色533000 [5]右江民族医学院附属医院血液内科,广西百色533000

出　　处：《检验医学与临床》2024年第9期1235-1240,共6页Laboratory Medicine and Clinic

基　　金：2019年度百色市科学研究与技术开放计划项目[百科字(2019)31号-30];广西临床重点专科(病理)建设项目(桂卫医发〔2022〕21号)。

摘　　要：目的探讨甲状腺癌患者BRAF V600E基因突变与民族及其临床病理特征的关系。方法选取2021年1月至2023年1月于右江民族医学院附属医院确诊的甲状腺癌患者300例作为研究对象,收集其病理标本,并根据患者民族将其分为壮族病例150例和汉族病例150例。采用实时荧光定量聚合酶链反应(qRT-PCR)检测BRAF基因V600E位点的突变情况。结果300例甲状腺癌患者中,突变型221例,野生型79例。壮族和汉族甲状腺癌患者BRAF V600E基因突变率比较(72.00%vs.75.33%),差异无统计学意义(P>0.05)。相同民族不同性别甲状腺癌患者间BRAF V600E基因突变率比较,差异均有统计学意义(P<0.01);相同性别不同民族甲状腺癌患者间BRAF V600E基因突变率比较,差异均有统计学意义(P<0.01)。<40岁的甲状腺癌患者BRAF V600E基因突变率为88.67%,明显高于≥40岁患者的58.67%,差异有统计学意义(P<0.05);但不同肿瘤最大径及不同淋巴结数目的甲状腺癌患者BRAF V600E基因突变率比较,差异均无统计学意义(P>0.05)。同一年龄范围内不同民族甲状腺癌患者间BRAF V600E基因突变率比较,差异均无统计学意义(P>0.05)。肿瘤最大径<2 cm的不同民族甲状腺癌患者间BRAF V600E基因突变率比较,差异有统计学意义(P=0.001),肿瘤最大径为2~4 cm的不同民族甲状腺癌患者间BRAF V600E基因突变率比较,差异有统计学意义(P=0.003)。相同淋巴结数目的不同民族甲状腺癌患者间BRAF基因V600E位点基因突变率比较,差异均无统计学意义(P>0.05)。不同民族甲状腺乳头状癌患者BRAF V600E基因突变率比较,差异有统计学意义(P<0.05),但不同民族甲状腺滤泡状癌及甲状腺未分化癌患者BRAF V600E基因突变率比较,差异均无统计学意义(P>0.05)。结论百色市甲状腺癌患者BRAF V600E基因突变率与民族、性别、肿瘤最大径及肿瘤类型有关。Objective To explore the relationship between BRAF V600E gene mutations and nationality and clinicopathologic characteristics of thyroid cancer patients.Methods Three hundred patients with thyroid cancer diagnosed at the Affiliated Hospital of Youjiang Medical College for Nationalities from January 2021 to January 2023 were selected and divided into 150 cases of the Zhuang nationality and 150 cases of Han nationality according to the patients′nationality,and their pathologic specimens were collected.Real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)was used to detect gene mutations at the V600E locus of the BRAF gene.Results Among the 300 thyroid cancer patients,221 cases were mutated and 79 cases were wild-type.The difference of the gene mutation rate at the V600E locus of the BRAF gene of patients with thyroid cancer in the Zhuang nationality and the Han nationality(72.00%vs.75.33%)showed no statistical significance(P>0.05).The difference of mutation rates at the V600E locus of the BRAF gene between different genders of the same nationality showed statistical significance(P<0.01);the difference of mutation rates at the V600E locus of the BRAF gene between different nationalities of the same gender showed statistical significance(P<0.01).The mutation rate of BRAF gene at the V600E locus in thyroid cancer patients<40 years old was 88.67%,which was significantly higher than that of 58.67%in patients≥40 years old,and the difference was statistically significant(P<0.05);however,the differences of the mutation rates of BRAF gene at the V600E locus in thyroid cancer patients with different maximum tumor diameters and different numbers of lymph nodes were not statistically significant(P>0.05).There was no statistically significant difference in mutation rates at the V600E locus of the BRAF gene among patients with different nationalities within the same age range(P>0.05).The difference of mutation rates at the V600E locus of the BRAF gene between thyroid patients of different nationalities with

关 键 词：甲状腺癌 BRAF V600E基因突变 壮族 汉族 临床病理特征 

分 类 号：R736.1[医药卫生—肿瘤]