TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis.

Details

Serval ID
serval:BIB_DDF00F806161
Type
Article: article from journal or magazin.
Collection
Publications
Title
TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis.
Journal
Journal of neuropathology and experimental neurology
Author(s)
Hewer E., Phour J., Gutt-Will M., Schucht P., Dettmer M.S., Vassella E.
ISSN
1554-6578 (Electronic)
ISSN-L
0022-3069
Publication state
Published
Issued date
01/04/2020
Peer-reviewed
Oui
Volume
79
Number
4
Pages
430-436
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
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.
Keywords
Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Neurology, Clinical Neurology, General Medicine, Glioma, Gliosis, Isocitrate dehydrogenase, Telomerase reverse transcriptase
Pubmed
Web of science
Create date
31/08/2020 12:02
Last modification date
10/11/2020 6:26
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