Effect of ARMS-qPCR on detection sensitivity of earlier diagnosis of papillary thyroid cancers with worse prognosis determined by BRAF V600E and TERT promoter mutation coexisting.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 6588-6588
Author(s):  
Peng-cheng Yu ◽  
Li-cheng Tan ◽  
Xiao Shi ◽  
Ben Ma ◽  
Wen-jun Wei ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Recurrence Rate ◽  
Braf V600e ◽  
Tert Promoter Mutation ◽  
Papillary Thyroid ◽  
Promoter Mutation ◽  
Mutation Status ◽  
Tert Promoter ◽  
Worse Prognosis ◽  
Sensitive Method

6588 Background: Co-existing of BRAF V600E and TERT promoter C228T/C250T mutation has been extensively related to prognosis in thyroid cancer. Our study aimed to establish a more sensitive method for mutation detection and explore the correlation more in-depth. Methods: BRAF and TERT promoter mutation status of 250 papillary thyroid cancer was detected by both Amplification Refractory Mutation System quantitative PCR (ARMS-qPCR) and Sanger sequencing to compare the sensitivity. The associations between the mutation status and the clinicopathological features were analyzed. Results: ARMS-qPCR displayed higher sensitivity than Sanger ( BRAF V600E: 75.2% vs. 52.4%, p< 0.001; TERT promoter C228T/C250T: 12.0% vs. 3.6%, p= 0.001; Co-mutation (9.6% vs. 3.2%, p= 0.005). Both methods indicated that patients with BRAF V600E and TERT promoter co-mutation were higher in age at diagnosis (ARMS-qPCR: 51.0 ± 14.2 vs. 40.2 ± 12.6, p <0.001; Sanger: 64.3 ± 7.1 vs. 40.5 ± 12.6, p <0.001), and the recurrence rate (16.7% vs. 3.1%, p= 0.014; 50.0% vs. 2.9%, p< 0.001), besides, the co-mutation group were related to more advanced TNM stage ( p< 0.001; p< 0.001) and higher MACIS score (5.1 ± 1.5 vs. 4.2 ± 0.7, p= 0.006; 6.6 ± 1.1 vs. 4.2 ± 0.8, p< 0.001). In addition, compared with the co-mutation results of Sanger, it seems that ARMS-qPCR has identified an earlier stage of group, which were younger (43.3 ± 10.1 vs. 66.4 ± 6.1, p< 0.001), and with smaller tumor (1.8 ± 1.5 vs. 4.0 ± 1.3, p= 0.002), as well as lower recurrence rate ( 0.0% vs. 50%, p= 0.007). Besides, the newly identified group were lower in MACIS score (4.2 ± 0.8 vs. 6.9 ± 0.7, p= 0.002) and with lower TNM stage ( p= 0.001). Conclusions: Patients with BRAF V600E and TERT promoter C228T/C250T co-mutation have a worse prognosis. Using ARMS-qPCR, the more sensitive method could identify earlier stages of patients with a potentially worse prognosis. [Table: see text]

Abstract A194: Transcriptome evaluation of papillary thyroid cancer with TERT promoter mutation

2018 ◽  
Author(s):  
Shih-Ping Cheng ◽  
Ming-Nan Chien ◽  
Chien-Liang Liu ◽  
Yi-Chiung Hsu ◽  
Po-Sheng Yang ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Tert Promoter Mutation ◽  
Papillary Thyroid ◽  
Promoter Mutation ◽  
Tert Promoter

scholarly journals Prospective Analysis of TERT Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution

2021 ◽  
Vol 10 (10) ◽  
pp. 2179
Author(s):  
Yun-Suk Choi ◽  
Seong-Woon Choi ◽  
Jin-Wook Yi
Keyword(s):  
Thyroid Cancer ◽  
Surgical Margin ◽  
Tert Promoter Mutation ◽  
Papillary Thyroid ◽  
Brafv600e Mutation ◽  
Promoter Mutation ◽  
Large Tumor ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

Background: Papillary thyroid cancer (PTC) has the highest cancer incidence in Korea. It is known that some thyroid cancers have aggressive clinical behavior and a poor prognosis. Genomic studies have described some somatic mutations that are related to the aggressive features of thyroid cancer, such as the BRAFV600E mutation. Recently, TERT promoter mutations were identified and reported as poor prognostic factors in PTC. Our aim was to identify the frequency and clinical impact of TERT promoter mutation in PTC. Methods: Analysis of both BRAFV600E and TERT promoter mutations in thyroidectomy specimens began in February 2019. As of December 2020, 622 patients had been tested. Data were prospectively collected and retrospectively reviewed to ascertain clinical and pathologic variables. Results: TERT promoter mutations were identified in 13 patients (2.09%); 12 had the C228T mutation, and one had the C216T mutation. In total, ten patients had the BRAFV600E mutation. TERT promoter mutation was significantly associated with advanced age (46.795 ± 12.616 versus 65.692 ± 13.628 years, p < 0.001), large tumor size (1.006 ± 0.829 versus 2.285 ± 1.938 cm, p = 0.035), extrathyroidal extension, surgical margin involvement, angioinvasion, BRAFV600E mutation and advanced TNM stage, a higher MACIS score and a high proportion of radioactive iodine therapy application. Logistic regression showed that lymphatic and angioinvasion and BRAFV600E mutation were predictive of TERT promoter mutation. Conclusions: Our study is the first to report the prospective results of TERT promoter mutations at a single tertiary hospital in Incheon, Korea. PTC with TERT promoter mutation was associated with more aggressive behavior than PTC with wild-type TERT gene status.

MRI Features Associated with TERT Promoter Mutation Status in Glioblastoma

2019 ◽  
Vol 29 (3) ◽  
pp. 357-363 ◽  
Author(s):  
Jana Ivanidze ◽  
Mark Lum ◽  
David Pisapia ◽  
Rajiv Magge ◽  
Rohan Ramakrishna ◽  
...  
Keyword(s):  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Mutation Status ◽  
Tert Promoter ◽  
Mri Features

Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting

2017 ◽  
Vol 471 (5) ◽  
pp. 641-649 ◽  
Author(s):  
Ekkehard Hewer ◽  
Nadine Prebil ◽  
Sabina Berezowska ◽  
Marielena Gutt-Will ◽  
Philippe Schucht ◽  
...  
Keyword(s):  
Clinical Setting ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Mutation Status ◽  
Tert Promoter ◽  
Routine Clinical Setting ◽  
Diffuse Gliomas

scholarly journals Impact of BRAF V600E and TERT Promoter Mutations on Response to Therapy in Papillary Thyroid Cancer

Endocrinology ◽  
2019 ◽  
Vol 160 (10) ◽  
pp. 2328-2338 ◽  
Author(s):  
Tomasz Trybek ◽  
Agnieszka Walczyk ◽  
Danuta Gąsior-Perczak ◽  
Iwona Pałyga ◽  
Estera Mikina ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Response To Therapy ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Tumor Node Metastasis ◽  
Node Metastasis ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

Abstract In this study, we examined the relationship between coexisting BRAF V600E and TERT promoter mutations in papillary thyroid cancer (PTC) and response to therapy. PTC cases (n = 568) with known BRAF and TERT status, diagnosed from 2000 to 2012 and actively monitored at one institution, were reviewed retrospectively. Associations between BRAF V600E and TERT promoter mutations and clinicopathological features, Tumor-Node-Metastasis stage, initial risk, response to therapy, follow-up, and final disease outcome were assessed according to American Thyroid Association 2015 criteria and the American Joint Committee on Cancer/Tumor-Node-Metastasis (8th edition) staging system. Median follow-up was 120 months. TERT promoter mutations (any type) were detected in 13.5% (77/568) of PTC cases with known BRAF status. The C228T and C250T TERT hotspot mutations were found in 54 (9.5%) and 23 (4%) patients, respectively, and 22 other TERT promoter alterations were identified. Coexisting BRAF V600E and TERT hotspot promoter mutations were detected in 9.5% (54/568) of patients, and significantly associated with older patient age (P = 0.001), gross extrathyroidal extension (P = 0.003), tumor stage pT3-4 (P = 0.005), stage II to IV (P = 0.019), intermediate or high initial risk (P = 0.003), worse than excellent response to primary therapy (P = 0.045), recurrence (P = 0.015), and final outcome of no remission (P = 0.014). We conclude that coexisting BRAF V600E and TERT mutations in patients with PTC are associated with poor initial prognostic factors and clinical course and may be useful for predicting a worse response to therapy, recurrence, and poorer outcome than in patients without the above mutations.

Association of TIMP-3 expression and BRAF V600E mutation status in papillary thyroid cancer

2017 ◽  
Author(s):  
Maryam Zarkesh ◽  
Mehdi Hedayati ◽  
Azita Zadeh-Vakili ◽  
Afsoon Daneshafrooz ◽  
S Adeleh Razavi ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Mutation Status
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