| Jincai xue,qinjiang liu,youxin tian,xiaofeng hou. Clinical significance of BRAFV600E and TERT promoter mutation in papillary thyroid microcarcinoma. Oncol Transl Med, 2019, 5: 75-79. |
| 甲状腺微小乳头状癌BRAFV600E及TERT启动子突变的临床意义 |
| Clinical significance of BRAFV600E and TERT promoter mutation in papillary thyroid microcarcinoma |
| Received:October 27, 2018 Revised:May 29, 2019 |
| DOI：10.1007/s10330-018-0314-4 |
| 中文关键词: 甲状腺微小乳头状癌,BRAFV600E,TERT,突变. |
| 英文关键词: papillary thyroid microcarcinoma (PTMC); BRAFV600E; TERT; mutation |
| 基金项目:兰州市科技计划项目（2017-4-75） |
| Author Name | Affiliation | E-mail | | Jincai xue | Gansu Province Tumor Hospital | xuejcky@163.com | | qinjiang liu* | Gansu Province Tumor Hospital | LIUQJ99@126.com | | youxin tian | Gansu Province Tumor Hospital | | | xiaofeng hou | Gansu Province Tumor Hospital | |
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| 中文摘要: |
| 摘要 目的：分析BRAFV600E及端粒酶逆转录酶（telomerase reverse transcriptase，TERT）启动子突变与甲状腺微小乳头状癌（papillary thyroid microcarcinoma，PTMC）危险因素的相关性及临床意义。方法：收集首诊治疗的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X2检验和二元Logistic回归分析进行数据统计学分析。结果：107例PTMC患者中, BRAFV600E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BRAFV600E突变均为差异性有统计学意义（p＜0.01）。年龄、性别、被膜侵犯、不良病理亚型及淋巴结转移在TERT启动子突变及BRAFV600E和TERT同时突变方面均为差异性有统计学意义（p＜0.05）。多因素分析显示：与BRAFV600E突变密切相关因素包括：甲状腺被膜侵犯（p =0.012）及淋巴结转移（p =0.000）。与TERT启动子突变密切相关因素包括：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BRAFV600E和TERT同时突变密切相关的有：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：BRAFV600E突变及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。 |
| 英文摘要: |
| Abstract:Objective The objective of this study was to analyze the correlation between BRAFV600E and TERT
promoter mutations and papillary thyroid microcarcinoma (PTMC) risk factors, and their importance in the
risk assessment of papillary thyroid microcarcinoma.
Methods This study retrospectively analyzed 107 cases of PTMC, which were diagnosed after the
surgery in the department of head and neck surgery in Gansu Province Tumor Hospital from October 2014
to June 2016. The mutations of BRAFV600E and TERT promoter were detected by PCR direct sequencing.
We analyzed the data using χ2 test and binary Logistic regression analysis.
Results Among 107 patients with PTMC, the BRAFV600E and TERT promoter mutation rates were 68.2%
and 11.2%, respectively. Single factor analysis showed that there was a significant difference between the
presence of membrane invasion, lymph node metastasis, and BRAFV600E mutations (P < 0.01). The age,
gender, thyroid capsular invasion, poor pathologic subtype, and lymph node metastasis of patients, was
significantly associated with the TERT promoter mutation (P < 0.05) and the coexistence of the BRAFV600E
and TERT promotor mutations; although, there was a difference between the association of these factors
with the TERT promoter mutation and the association of these factors with the coexistence of the BRAFV600E
and TERT promotor mutations. The multifactorial analysis showed that the factors closely related to the
BRAFV600E mutation included capsular invasion (P = 0.012) and lymph node metastasis (P = 0.000). The
following factors were closely associated with the TERT promoter mutant: male (P = 0.004), aged < 45 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 mutation of BRAFV600E and TERT:
male (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 mutations in BRAFV600E and TERT
promoters occur simultaneously in PTMC and may have adverse outcomes. Combined detection of
BRAFV600E and TERT promoter mutations is of great value in risk assessment of PTMC. |
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