藏族人群甲状腺微小乳头状癌BRAF^(V600E)基因突变及临床意义  

BRAF^(V600E) Mutation of Thyroid Micropapillary Microcarcinoma in the Tibetan Population and Its Clinical Significance

作　　者：何丹[1] 朱坪 刘林 江成浩 刘誉泽 陈祯勇[1] He Dan;Zhu Ping;Liu Lin;Jiang Chenghao;Liu Yuze;Chen Zhenyong(Department of General Surgery, Tibet Branch, West China Hospital, Sichuan University, Chengdu 610041 ,Sichuan, China)

机构地区：[1]四川大学华西医院西藏成办分院普外科,成都610041

出　　处：《肿瘤预防与治疗》2019年第3期233-237,共5页Journal of Cancer Control And Treatment

基　　金：西藏成办分院院级科研项目(编号:2016-YJ-2)~~

摘　　要：目的:检测藏族人群中甲状腺微小乳头状癌(papillary thyroid microcarcinoma,PTMC)BRAF^(V600E)基因突变情况,分析BRAF^(V600E)基因突变与临床病理特征的关系。方法:选取2014年5月至2017年5月期间在四川大学华西医院西藏成办分院就诊并行手术治疗的PTMC患者69例,收集患者临床病理资料,采用荧光定量聚合酶链反应法检测BRAF^(V600E)基因突变状态。结果:藏族人群中PTMC患者BRAF^(V600E)基因突变率为60.9%(42/69);69例患者中多灶肿瘤占33.3%(23/69),肿瘤腺外侵犯率为30.4%(21/69),淋巴结转移率为23.2%(16/69),进展期肿瘤(III/IV期)构成比为21.7%(15/69);BRAF^(V600E)基因突变与多灶肿瘤(P=0.036)、肿瘤腺外侵犯(P=0.024)、淋巴结转移(P=0.013),进展期肿瘤(P=0.021)相关,差异有统计学意义。淋巴结转移除与BRAF^(V600E)基因突变相关而外,还与多灶肿瘤(P<0.001)肿瘤腺外侵犯(P<0.001)相关。结论:藏族人群中PTMC患者BRAF^(V600E)基因突变较为多见,且与肿瘤多灶、侵袭、转移及临床分期相关,可作为筛选高危PTMC患者的分子标记,评估预后并指导个体化治疗。Objective: To analyze the relation between BRAFV600 E mutation and the clinicopathological features of Tibetans with papillary thyroid microcarcinoma(PTMC). Methods: We performed a retrospective review of 69 PTMC patients who underwent surgical resection from May 2014 to May 2017 at our hospital. Clinical data were reviewed and BRAFV600 E mutation were detected using quantitative fluorescence polymerase chain reaction. Results: Among Tibetans with PTMC, the incidence of BRAFV600 E mutation was 60.9(42/69). Multifocal tumors were seen in 33.3%(23/69) of cases. The incidence of extrathyroidal extension and lymph node metastasis were 30.4%(21/69) and 23.2%(16/69), respectively. Advanced-stage(defined as TNM III/IV) tumors was found in 21.7% of the 69 patients. BRAFV600 E mutation was associated with multifocality(P=0.036), extrathyroidal extension(P=0.024), lymph node metastasis(P=0.013) and advanced-stage tumors(P=0.021). In addition to BRAFV600 E mutation, there was a significantly positive correlation between lymph node metastasis and multifocality(P<0.001) or extrathyroidal extension(P<0.001). Conclusion: It is suggested that BRAFV600 E mutation is relatively common among Tibetans with PTMC, and it is significantly associated with tumor multifocality, aggressiveness, metastases and clinical stages. The BRAFV600 E mutation may be a useful prognostic molecular marker in identifying its progression and management of PTMC in appropriately defined clinical settings.

关 键 词：甲状腺微小乳头状癌 BRAF^V600E基因突变 临床病理特征 

分 类 号：R736[医药卫生—肿瘤]