Titre
TERT Promoter Mutation Analysis to Distinguish Glioma From Gliosis.
Type
article
Institution
Externe
Auteur(s)
Hewer, E.
Auteure/Auteur
Phour, J.
Auteure/Auteur
Gutt-Will, M.
Auteure/Auteur
Schucht, P.
Auteure/Auteur
Dettmer, M.S.
Auteure/Auteur
Vassella, E.
Auteure/Auteur
Liens vers les personnes
ISSN
1554-6578
Statut éditorial
Publié
Date de publication
2020-04-01
Volume
79
Numéro
4
Première page
430
Dernière page/numéro d’article
436
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
PID Serval
serval:BIB_DDF00F806161
PMID
URL éditeur
Date de création
2020-08-31T11:02:37.704Z
Date de création dans IRIS
2025-05-21T05:47:37Z