Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting

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

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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; Berezowska, Sabina Anna; Schucht, Philippe; Dettmer, Matthias and 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:

04 Nov 2017 01:31

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

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