scholarly journals Comparative study of TERT promoter mutation status within spatially, temporally and morphologically distinct components of urothelial carcinoma

2017 ◽  
Vol 72 (2) ◽  
pp. 354-356 ◽  
Author(s):  
Noah A Brown ◽  
Madelyn Lew ◽  
Helmut C Weigelin ◽  
Alon Z Weizer ◽  
Jeffrey S Montgomery ◽  
...  
Keyword(s):  
Comparative Study ◽  
Urothelial Carcinoma ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Mutation Status ◽  
Tert Promoter

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

Cell-free tumor DNA and TERT promoter mutations in bladder cancer.

2017 ◽  
Vol 35 (6_suppl) ◽  
pp. 353-353 ◽  
Author(s):  
Franklin W. Huang ◽  
Mikael L. Rinne ◽  
Kevin T. Lundgren ◽  
Stephanie Anne Mullane ◽  
Irene Moreno ◽  
...  
Keyword(s):  
Urothelial Carcinoma ◽  
Metastatic Disease ◽  
Tert Promoter Mutation ◽  
Plasma Samples ◽  
Promoter Mutation ◽  
Library Construction ◽  
Non Invasive ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

353 Background: Currently, there are no FDA-approved blood biomarkers for the prognosis or prediction of outcomes in urothelial carcinoma (UC). The telomerase reverse transcriptase ( TERT) promoter is recurrently mutated at high frequency in UC (50%). These mutations have been correlated with tumor recurrence and survival. Tumor cell-free DNA (cfDNA) with somatic genomic alterations can be found in the plasma of cancer patients and has the potential for use as a non-invasive cancer biomarker. Detection of TERT promoter mutations in cfDNA might be used as a prognostic tool to monitor disease outcome in UC patients. We set out to detect tumor cfDNA and TERT promoter mutations in cfDNA from patients with UC at different stages. Methods: UC patients receiving chemotherapy in the neoadjuvant, first or second-line metastatic setting had blood collected either before or during therapy. cfDNA was isolated from ~1ml plasma samples using the QIAmp (Qiagen) kit. Samples underwent ultra-low pass whole genome sequencing (ULP-WGS) to determine whether tumor cfDNA could be detected in these samples. TERT promoter mutations were detected using a sensitive qPCR assay. Results: 40 plasma samples from a total of 32 patients with urothelial carcinoma were analyzed. Sufficient amounts of plasma cfDNA were obtained for library construction and ULP-WGS in 11 patients. 6 of these 11 patients were determined to be positive for detectable tumor cfDNA and of these, all were metastatic and 50% (3/6) were positive for a TERT promoter mutation. In total, 8 out of 40 samples (20%) were positive for a TERT promoter mutation, including samples from two patients where total cfDNA yield was insufficient for library construction. A total of ~20% of patients with metastatic disease were positive for TERT promoter mutations in cfDNA. The low percentage of samples having sufficient cfDNA most likely reflects the low volume of plasma used. Conclusions: TERT promoter mutations were identified in cfDNA of UC patients. ULP-WGS showed tumor cfDNA in patients with a high tumor burden and metastatic disease. TERTpromoter mutations in cfDNA could potentially be used as a non-invasive method for detection of disease. These results have implications for the use of cfDNA in the evaluation of advanced UC.

scholarly journals TERT Promoter Mutation Status as an Independent Prognostic Factor in Cutaneous Melanoma

2014 ◽  
Vol 106 (9) ◽  
Author(s):  
Klaus G. Griewank ◽  
Rajmohan Murali ◽  
Joan Anton Puig-Butille ◽  
Bastian Schilling ◽  
Elisabeth Livingstone ◽  
...  
Keyword(s):  
Prognostic Factor ◽  
Cutaneous Melanoma ◽  
Independent Prognostic Factor ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Mutation Status ◽  
Tert Promoter

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]

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