The value of<em>BRAF</em><sup>V600E</sup>and TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma

薛金才; 刘勤江; 田尤新

doi:10.19401/j.cnki.1007-3639.2018.05.003

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The value ofBRAF^V600Eand TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma

更新时间：2026-01-27

- The value ofBRAF^V600Eand TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma
- China Oncology Vol. 28, Issue 5, Pages: 335-341(2018)
- 作者机构：
  
  甘肃省肿瘤医院头颈外科,甘肃,兰州,730050
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2018.05.003
  CLC： R736.1
- Published Online：12 June 2018，
  
  Published：12 June 2018
- 稿件说明：
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薛金才,刘勤江,田尤新,等.

薛金才, 刘勤江, 田尤新. The value ofBRAF^V600Eand TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma[J]. China Oncology, 2018, 28(5): 335-341.
薛金才,刘勤江,田尤新,等. DOI： 10.19401/j.cnki.1007-3639.2018.05.003.

薛金才, 刘勤江, 田尤新. The value ofBRAF^V600Eand TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma[J]. China Oncology, 2018, 28(5): 335-341. DOI： 10.19401/j.cnki.1007-3639.2018.05.003.

摘要

背景与目的：甲状腺微小乳头状癌（papillary thyroid microcarcinoma，PTMC）发病率迅速上升，对其治疗一直存在争议。PTMC风险评估的关键指标大多系手术后临床病理参数，以回顾性总结为主，对临床治疗的指导价值有限。该研究旨在分析BRAF

V600E

及端粒酶逆转录酶（telomerase reverse transcriptase，TERT）启动子突变与PTMC危险因素的相关性及在PTMC的风险评估中的价值。方法：收集甘肃省肿瘤医院头颈外科2014年10月—2016年6月首诊治疗的107例PTMC患者，采用聚合酶链反应（polymerase chain reaction，PCR）直接测序法检测BRAF

V600E

及TERT启动子突变，应用χ

检验和二元logistic回归分析对数据进行统计学分析。结果：107例PTMC患者中，BRAF

V600E

和TERT启动子突变率分别为68.2%和11.2%。单因素分析显示，有无被膜侵犯及淋巴结转移与BRAF

V600E

突变均有显著相关性（P均＜0.01）。年龄、性别、被膜侵犯、不良病理亚型及淋巴结转移与TERT启动子突变及BRAF

V600E

和TERT同时突变均有显著相关性（P 均＜0.05）。多因素分析显示，与BRAF

V600E

突变显著相关的因素包括：甲状腺被膜侵犯（P=0.012）及淋巴结转移（P=0.000）。与TERT启动子突变显著相关的因素包括：男性（P=0.004）、年龄＜45岁（P=0.026）、甲状腺被膜侵犯（P=0.004）、不良病理亚型（P=0.030）及淋巴结转移（P=0.043）。与BRAF

V600E

和TERT同时突变显著相关的因素包括：男性（P=0.022）、甲状腺被膜侵犯（P=0.023）、不良病理亚型（P=0.041）及淋巴结转移（P=0.030）。结论：BRAF

V600E

及TERT启动子突变可能成为甲状腺微小乳头状癌的分子诊断标志和预后指标，同时出现BRAFV600E及TERT启动子突变可能与患者的不良预后相关，对PTMC风险评估有重要价值。

Abstract

Background and purpose: The incidence of papillary thyroid microcarcinoma (PTMC) has been increasing rapidly

and its treatment is controversial. Most of the key indicators of PTMC risk assessment are clinical and pathological parameters after operation

which are mainly based on retrospective review limiting guiding value for clinical treatment. The objective of this study was to analyze the correlation between the mutations of BRAF

V600E

and telomerase reverse transcriptase (TERT) promoter and PTMC risk factors

and their value in the risk assessment of PTMC. Methods: This study retrospectively analyzed 107 cases of PTMC which were diagnosed after the surgery at the Department of Head and Neck Surgery in Gansu Province Tumor Hospital from October 2014 to June 2016. The mutations of BRAF

V600E

and TERT promoter were detected by polymerase chain reaction (PCR) direct sequencing. We analyzed the data using χ2 test and binary logistic regression analysis. Results: Among 107 patients with PTMC

BRAF

V600E

and TERT promoter mutation rates were 68.2% and 11.2%

respectively. Single factor analysis showed that the presence of membrane invasion and lymph node metastasis was significantly correlated with BRAF

V600E

mutation (P0.01). Age

gender

capsular invasion

poor pathologic subtype and lymph node metastasis were significantly correlated with TERT promoter mutation and BRAF

V600E

and TERT mutation at the same time (P0.05). Multifactorial analysis showed that the factors closely related to the BRAF

V600E

mutation included capsular invasion (P=0.012) and lymph node metastasis (P=0.000). The following factors were closely associated with TERT promoter mutation: male (P=0.004)

age45 years (P=0.026)

capsular invasion (P=0.004)

pathological subtype (P=0.030) and lymph node metastasis (P=0.043). The following factors were closely related to the simultaneous mutations of BRAF

V600E

and TERT: ma

le (P=0.022)

capsular invasion (P=0.023)

poor pathological subtype (P=0.041) and lymph node metastasis (P=0.030). Conclusion: The risk of recurrence increases significantly when BRAF

V600E

and TERT mutations occur simultaneously in PTMC and may have an adverse outcome. Combined detection of BRAF

V600E

and TERT promoter mutations is of great value in risk assessment of PTMC. They have important value for the risk assessment of PTMC.

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Related Institution

Operating Room, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University

Department of General Surgery, Minhang Hospital, Fudan University

Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University

Department of Oncology, the Fourth Hospital Affiliated to Hebei Medical University

大连医科大学附属第一医院肿瘤科

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The value ofBRAFV600Eand TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma

DOI：10.19401/j.cnki.1007-3639.2018.05.003

摘要

Abstract

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Keywords

references

The value ofBRAF^V600Eand TERT promoter mutation in risk assessment of papillary thyroid microcarcinoma