Telomerase reverse transcriptase (TERT) promoter mutation analysis of benign, malignant and reactive urothelial lesions reveals a subpopulation of inverted papilloma with immortalizing genetic change

2016 ◽  
Vol 69 (1) ◽  
pp. 107-113 ◽  
Author(s):  
Liang Cheng ◽  
Darrell D Davidson ◽  
Mingsheng Wang ◽  
Antonio Lopez-Beltran ◽  
Rodolfo Montironi ◽  
...  
Keyword(s):  
Reverse Transcriptase ◽  
Mutation Analysis ◽  
Genetic Change ◽  
Inverted Papilloma ◽  
Telomerase Reverse Transcriptase ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Tert Promoter

scholarly journals TERT Promoter Mutation Analysis for Blood-Based Diagnosis and Monitoring of Gliomas

2020 ◽  
Vol 27 (1) ◽  
pp. 169-178
Author(s):  
Koushik Muralidharan ◽  
Anudeep Yekula ◽  
Julia L. Small ◽  
Zachary S. Rosh ◽  
Keiko M. Kang ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Tert Promoter

scholarly journals TERT Promoter Mutation is a Diagnostic and Differential Diagnostic Marker for Tumors with Urothelial Origin

2020 ◽  
Vol 4 (2) ◽  
Author(s):  
Shaobo Zhang
Keyword(s):  
Differential Diagnosis ◽  
Diagnostic Marker ◽  
Clinical Implications ◽  
Telomerase Reverse Transcriptase ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

Telomerase reverse transcriptase (TERT) promoter mutations have been found in approximately 60–80% of bladder urothelial cancers and its variants of all grades anywhere in the urinary tract. The TERT promoter mutations occur early in urothelial neoplasia and are biomarkers for neoplasm development, recurrence, diagnosis, differential diagnosis, and potentially a therapeutic target. This review highlighted the role of TERT promoter mutations in urothelial tumorigenesis, and the potential clinical implications.

scholarly journals TERT promoter mutation analysis as a surrogate to morphology and immunohistochemistry in problematic spindle cell lesions of the urinary bladder

2020 ◽  
Vol 77 (6) ◽  
pp. 949-962
Author(s):  
Simone Bertz ◽  
Robert Stöhr ◽  
Nadine T Gaisa ◽  
Bernd Wullich ◽  
Arndt Hartmann ◽  
...  
Keyword(s):  
Urinary Bladder ◽  
Mutation Analysis ◽  
Spindle Cell ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Tert Promoter

Telomerase reverse transcriptase promoter mutation analysis on thyroid core needle biopsy

2015 ◽  
Author(s):  
Marcella Callea ◽  
Anna Crescenzi ◽  
Pierpaolo Trimboli ◽  
Davide Cicciarella Modica ◽  
Chiara Taffon ◽  
...  
Keyword(s):  
Reverse Transcriptase ◽  
Mutation Analysis ◽  
Core Needle Biopsy ◽  
Needle Biopsy ◽  
Telomerase Reverse Transcriptase ◽  
Promoter Mutation ◽  
Core Needle

scholarly journals TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis

2020 ◽  
Vol 79 (4) ◽  
pp. 430-436
Author(s):  
Ekkehard Hewer ◽  
Jaison Phour ◽  
Marielena Gutt-Will ◽  
Philippe Schucht ◽  
Matthias S Dettmer ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Reactive Gliosis ◽  
Tert Promoter Mutation ◽  
Promoter Mutation ◽  
Isocitrate Dehydrogenase 1 ◽  
Combined Analysis ◽  
Tert Promoter ◽  
Diffuse Gliomas ◽  
Hotspot Mutations ◽  
Promoter Mutations

Abstract Among the most challenging diagnostic issues in surgical neuropathology is the distinction between scant infiltration by diffuse gliomas and reactive gliosis. The best documented ancillary marker to establish a definitive diagnosis of glioma in this setting is the identification of hotspot mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes, which is limited, however, by the low prevalence of these mutations in gliomas of elderly adults. Since telomerase reverse transcriptase (TERT) promoter mutations are present in the vast majority of IDH-wildtype diffuse gliomas, we hypothesized that combined analysis of IDH and TERT might overcome these limitations. For this purpose, we analyzed a series of non-neoplastic and neoplastic CNS samples for the prevalence of TERT hotspot mutations. TERT mutations were identified in none out of 58 (0%) reactive gliosis samples, and in 91 out of 117 (78%) IDH-wildtype gliomas. Based on a series of 200 consecutive diffuse gliomas, we found that IDH mutation analysis alone had a sensitivity of 28% (63% and 12%, respectively, in patients below and above age of 50) for detection of gliomas, whereas a combined analysis of IDH and TERT was 85% sensitive (87% and 84%, respectively, below and above age of 50). In sum, our findings suggest that TERT promoter mutation analysis contributes favorably to a molecular panel in cases equivocal for glioma versus gliosis on morphological grounds, especially in patients above age of 50, in which IDH analysis alone performs poorly.

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