| Xiaoting Ru,Qinjiang Liu,Haihong Zhou,Rong Yang,LiE Bao. BRAF V600E/TERT promoter mutations and NIS/TSHR expression in differentiated thyroid carcinoma and their clinical significance. Oncol Transl Med, 2017, 3: 71-76. |
| 分化型甲状腺癌BRAFV600E、TERT启动子突变与NIS、TSHR表达及其临床意义 |
| BRAF V600E/TERT promoter mutations and NIS/TSHR expression in differentiated thyroid carcinoma and their clinical significance |
| Received:October 17, 2016 Revised:April 12, 2017 |
| DOI：10.1007/s10330-016-0200-0 |
| 中文关键词: 分化型甲状腺癌；BRAF V600E；TERT启动子；钠碘同向转运体；促甲状腺激素受体 |
| 英文关键词: differentiated thyroid carcinoma (DTC); BRAF V600E; TERT promoter mutations; sodium iodide symporter; thyroid stimulating hormone receptor |
| 基金项目:北京医学奖励基金会资助项目（项目编号：YJHYXKYJJ-206） |
| Author Name | Affiliation | E-mail | | Xiaoting Ru | College of Life Sciences,Lanzhou University | ruxiaoting@126.com | | Qinjiang Liu* | Department of Head and Neck Surgery,Gansu Province Tumor Hospital | m15002526429@163.com | | Haihong Zhou | Translational Medicine Research Center,Gansu Province Tumor Hospital | | | Rong Yang | Department of Pathology,Gansu Province Tumor Hospital | | | LiE Bao | College of Life Sciences,Lanzhou University | |
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| 中文摘要: |
| 摘 要: 目的 探讨分化型甲状腺癌（differentiated thyroid carcinoma，DTC）BRAF V600E、TERT启动子突变与NIS、TSHR 表达及其临床意义。方法 对229例分化型甲状腺癌、52例结节性甲状腺肿及31例正常甲状腺组织采用PCR直接测序法对BRAF V600E、TERT突变进行检测，并对肿瘤组织NIS、TSHR进行免疫组织化学染色。结果 DTC中BRAF V600E突变率为62.0%（142/229），TERT启动子突变率为7.9%（18/229），包括C228T（0.9%）和 C250T（7.0%），且TERT启动子突变的18例中有11例（61.1%）同时伴有BRAF V600E突变。BRAF V600E突变与DTC患者性别、年龄、肿块大小、淋巴结转移及复发危险度分层均无关(P>0.05)；TERT启动子在男性患者、年龄45岁及以上患者和中高危组患者中突变率较高（P<0.05）；BRAF V600E和TERT启动子同时突变率在淋巴结转移患者及中高危患者也较高，且BRAF V600E 和TERT同时突变组NIS阳性率（45.5%）较低，低于BRAF V600E、TERT启动子突变单阴性DTC组（55.1%）及BRAF V600E、TERT启动子突变双阴性DTC组（57.5%）和结节性甲状腺肿、正常甲状腺组（75.9%）（|r| =0.171， P=0.002）。结论本文TERT启动子突变率在DTC中较低且TERT C250T位点突变率高于TERT C228T位点突变率；联合检测BRAFV600E和TERT启动子突变对DTC患者预后评估和治疗方案的选择具有指导意义。 |
| 英文摘要: |
| Objective Telomerase reverse transcriptase (TERT) promoter mutations have recently been described
in thyroid carcinoma. The purpose of this study was to investigate the clinical significance of (v-raf murine
sarcoma viral oncogene homolog B1) BRAF V600E and TERT promoter mutations in differentiated thyroid
carcinoma (DTC). The relationship between the two mutations and NIS/TSHR expression was also
analyzed.
Methods We have detected BRAF V600E and TERT promoter mutations by direct sequencing and NIS/
TSHR expression by immunohistochemistry in 229 cases of DTC, 52 cases of benign nodular goiter, and
31 cases of normal thyroid tissue.
Results The BRAF V600E mutation was detected in 142 (62.0%) of 229 cases of DTC [141 cases
of papillary thyroid carcinoma (PTC) and 1 case of follicular thyroid carcinoma (FTC)]. TERT promoter
mutations were detected in 18 (7.9%) of 229 cases of DTC (14 cases of PTC and 4 cases of FTC), including
the mutations C228T (0.9%) and C250T (7.0%), which were mutually exclusive. Moreover, 11 (61.1%) cases
also harbored the BRAF V600E mutation, which was not associated with gender, age, tumor size, lymph
node metastasis, and recurrence risk stratification (P >0.05). The rate of TERT promoter mutation was
higher in males, age ≥45, and in the middle/high-risk group (P <0.05), and the rate of simultaneous BRAF
V600E and TERT promoter mutations were higher in the middle/high-risk group (P <0.05). In addition, NIS
positive rate in the concurrent BRAF V600E and TERT promoter mutation group (45.5 %) was lower than
in other groups (that is, the DTC group with BRAF V600E or TERT promoter mutations (55.1%), the DTC
group with no BRAF V600E or TERT promoter mutation (57.5%), the nodules and normal group (75.9%);
| r | = 0.171, P = 0.002).
Conclusion TERT promoter mutations were lower in patients with DTC, with the C250T mutation being
the most common. The detection of BRAF V600E mutation combined with TERT promoter mutations was
instructive for the prognosis assessment and treatment of DTC. |
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