Hewer, Ekkehard; Prebil, Nadine; Berezowska, Sabina Anna; Gutt-Will, M.; Schucht, Philippe; Dettmer, Matthias; Vassella, Erik (2017). Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting. Virchows Archiv, 471(5), pp. 641-649. Springer 10.1007/s00428-017-2216-x
|
Text
s00428-017-2216-x.pdf - Published Version Available under License Publisher holds Copyright. Download (993kB) | Preview |
IDH (isocitrate dehydrogenase) gene mutations are present in most diffuse low-grade gliomas and define the clinico-pathological core of the respective morphologically defined entities. Conversely, according to the 2016 WHO classification, the majority of glioblastomas belong to the IDH-wildtype category, which is defined by exclusion. TERT (telomerase reverse transcriptase gene) promoter mutations have been suggested as a molecular marker for primary glioblastomas. We analyzed molecular, histopathological, and clinical profiles of a series of 110 consecutive diffuse gliomas (WHO grades II-IV) diagnosed at our institution, in which TERT promoter mutation analysis had been performed as part of diagnostic work-up. A diagnostic algorithm based on IDH, TERT, ATRX, H3F3A, and 1p19q co-deletion status resulted in a consistent molecular classification with only 14 (13%) marker-negative tumors. TERT promoter mutations were present in 77% of IDH-wildtype tumors. The TERT/IDH-wildtype category was highly enriched for tumors with unconventional clinical or histological features. Molecular classes were associated with distinct rates of MGMT promoter methylation. We conclude that, in a routine diagnostic setting, TERT promoter mutations define a relatively homogeneous core group among IDH-wildtype diffuse gliomas that includes the majority of primary glioblastomas as well as their putative precursor lesions.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Service Sector > Institute of Pathology 04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurosurgery |
UniBE Contributor: |
Hewer, Ekkehard Walter, Berezowska, Sabina Anna, Schucht, Philippe, Dettmer, Matthias, Vassella, Erik |
Subjects: |
600 Technology > 610 Medicine & health 500 Science > 570 Life sciences; biology |
ISSN: |
0945-6317 |
Publisher: |
Springer |
Language: |
English |
Submitter: |
Ekkehard Hewer |
Date Deposited: |
04 Oct 2017 11:15 |
Last Modified: |
02 Mar 2023 23:29 |
Publisher DOI: |
10.1007/s00428-017-2216-x |
PubMed ID: |
28823044 |
BORIS DOI: |
10.7892/boris.105058 |
URI: |
https://boris.unibe.ch/id/eprint/105058 |
Actions (login required)
 |
Edit item |