Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting.
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 cate...
| Publicado en: | Virchows Archiv: European Journal of Pathology Vol. 471; no. 5; pp. 641 - 650 |
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| Autores principales: | , , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Springer Nature
Nov2017
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=126017141&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 126017141 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09456317 O1Z jtl: Virchows Archiv: European Journal of Pathology issn: 09456317 maglogo: N pubinfo: dt: Nov2017 vid: 471 iid: 5 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 126017141 126017141 143980831 NLM28823044 10.1007/s00428-017-2216-x NLM28823044 126017141 ppf: 641 ppct: 9 formats: fmt: @attributes: type: P tig: atl: Diagnostic implications of TERT promoter mutation status in diffuse gliomas in a routine clinical setting. aug: au: Hewer, Ekkehard Prebil, Nadine Berezowska, Sabina Gutt-Will, Marielena Schucht, Philippe Dettmer, Matthias Vassella, Erik Dettmer, Matthias S affil: Institute of Pathology , University of Bern , Murtenstrasse 31 3010 Bern Switzerland sug: subj: Glioma Transferases Brain Neoplasms Sequence Analysis Male Aged, 80 and Over Glioma Diagnosis Young Adult Genes Adolescence Child Brain Neoplasms Mortality Aged Middle Age Mutation Female Adult Infant Glioma Mortality Brain Neoplasms Diagnosis Kaplan-Meier Estimator Scales Aged, 80 & over Adolescent: 13-18 years Child: 6-12 years Aged: 65+ years Middle Aged: 45-64 years Adult: 19-44 years Infant: 1-23 months Male Female ab: 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. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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