TERT promoter mutation status is necessary and sufficient to diagnose IDH-wildtype diffuse astrocytic glioma with molecular features of glioblastoma
The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) update 3 recommends that histologic grade II and III IDH -wildtype diffuse astrocytic gliomas that harbor EGFR amplification, the combination of whole chromosome 7 gain and whole chromosome 10 loss (7 + /...
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Veröffentlicht in: | Acta neuropathologica 2021-08, Vol.142 (2), p.323-338 |
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Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) update 3 recommends that histologic grade II and III
IDH
-wildtype diffuse astrocytic gliomas that harbor
EGFR
amplification, the combination of whole chromosome 7 gain and whole chromosome 10 loss (7 + /10 −), or
TERT
promoter (p
TERT
) mutations should be considered as glioblastomas (GBM), World Health Organization grade IV. In this retrospective study, we examined the utility of molecular classification based on p
TERT
status and copy-number alterations (CNAs) in
IDH
-wildtype lower grade gliomas (LGGs, grade II, and III). The impact on survival was evaluated for the p
TERT
mutation and CNAs, including
EGFR
gain/amplification,
PTEN
loss,
CDKN2A
homozygous deletion, and
PDGFRA
gain/amplification. We analyzed 46 patients with
IDH
-wildtype/p
TERT
-mutant (mut) LGGs and 85 with
IDH
-wildtype/p
TERT
-wildtype LGGs.
EGFR
amplification and a combination of
EGFR
gain and
PTEN
loss (
EGFR
+ /
PTEN
−) were significantly more frequent in p
TERT
-mut patients (
p
|
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ISSN: | 0001-6322 1432-0533 |
DOI: | 10.1007/s00401-021-02337-9 |