| 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. |
| 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 |
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| KeyWord:differentiated thyroid carcinoma (DTC); BRAF V600E; TERT promoter mutations; sodium iodide symporter; thyroid stimulating hormone receptor |
| 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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| Abstract: |
| 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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