BRAF V600E野生型甲状腺乳头状癌303例临床病理学特征  

Clinicopathologic analysis of 303 cases of BRAF V600E wild-type papillary thyroid carcinomas

作　　者：李栋 刘艺璇 李雪晴 王丽丽[1] 林东亮[1] 谷海燕[1] 王婧楠 王继纲[1] LI Dong;LIU Yi-xuan;LI Xue-qing;WANG Li-li;LIN Dong-liang;GU Hai-yan;WANG Jing-nan;WANG Ji-gang(Department of Pathology,the Affiliated Hospital of Qingdao University,Qingdao 266555,China;Department of Pathology,School of Basic Medicine,Qingdao University,Qingdao 266071,China)

机构地区：[1]青岛大学附属医院病理科,青岛266555 [2]青岛大学基础医学院病理学系,青岛266071

出　　处：《临床与实验病理学杂志》2022年第12期1474-1479,共6页Chinese Journal of Clinical and Experimental Pathology

基　　金：希思科-臻和肿瘤研究基金项目(Y-2019Genecast-020)。

摘　　要：目的探讨BRAF V600E野生型甲状腺乳头状癌(papillary thyroid cancer,PTC)的临床病理特征。方法收集1564例PTC临床资料(最大径均﹥1 cm),采用免疫组化染色判定BRAF V600E状态(阴性者判定为BRAF V600E野生型,阳性者为突变型);分析BRAF V600E野生型PTC的临床病理特点,并比较BRAF V600E野生型PTC与突变型PTC的差异;采用靶向基因二代测序技术筛选15例BRAF V600E野生型PTC中的基因突变类型。结果PTC中BRAF V600E阳性率80.6%(1261例),阴性率为19.4%(303例)。BRAF V600E野生型PTC中,男性67例,女性236例,男女比为1∶3.5;年龄11~70岁,平均42岁;病灶最大径1~7.5 cm,平均1.8 cm;198例有被膜侵犯,207例有区域淋巴结转移,120例伴桥本甲状腺炎。与BRAF V600E突变型PTC相比,BRAF V600E野生型更常合并桥本甲状腺炎,区域淋巴结转移率更高;BRAF V600E野生型PTC最常见的组织学类型是经典型。134例患者获得随访,随访期内仅有3例复发。二代测序筛选到9个癌症驱动基因的外显子区域突变。结论BRAF V600E野生型PTC具有高侵袭性的生物学行为,有必要根据基因表型等进行进一步的分层。Purpose The present study aimed to analyze the clinicopathologic characteristics of BRAF V600E wild-type papillary thyroid cancer(PTC).Methods A total of 1564 cases of PTC(more than 1 cm)were retrieved,and BRAF V600E status was determined by immunohistochemistry(negative,wild-type,positive,mutant-type).The clinicopathologic characteristics of PTC patients with BRAF V600E wild type were analyzed,and the differences between BRAF V600E wild-type PTCs and mutant-type PTCs were compared.Targeted next generation sequencing was performed in 15 cases of BRAF V600E wild-type PTC to screen the underlying gene variants.Results The positive rate of BRAF V600E was 80.6%(1261 cases)and the negative rate was 19.4%(303 cases).Among BRAF V600E wild-type PTCs,67 were male and 236 were female with a male-to-female ratio of 1∶3.5.Patients’age ranged from 11 years to 70 years with a mean age of 42 years.The tumor size ranged from 1 cm to 7.5 cm with an average diameter of 1.8 cm.In addition,207 cases had regional lymph node metastases,and 120 cases were accompanied by Hashimoto’s thyroiditis.In comparison with BRAF V600E mutant-type PTCs,BRAF V600E wild-type PTCs tended to combine with Hashimoto’s thyroiditis,and the regional lymph node metastasis rate was much higher.The most common histological type of BRAF V600E wild-type PTC was classic type.Only three instances out of 134 BRAF V600E wild-type PTCs underwent recurrence during the follow-up period.Nine exons’mutations were identified by next generation sequencing.Conclusion BRAF V600E wild-type PTC has a highly aggressive biological behavior,and it is necessary to further stratify according to gene phenotype.

关 键 词：甲状腺肿瘤 乳头状癌 BRAF V600E 病理学 二代测序 

分 类 号：R736.1[医药卫生—肿瘤]