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. 2021 Jan;151(2):279-286.
doi: 10.1007/s11060-020-03662-x. Epub 2020 Nov 17.

Characteristics of IDH-mutant gliomas with non-canonical IDH mutation

L Poetsch  1 , C Bronnimann  2 , H Loiseau  3   4 , J S Frénel  5 , A Siegfried  6 , R Seizeur  7 , G Gauchotte  8 , D Cappellen  9   10 , C Carpentier  11 , D Figarella-Branger  12 , S Eimer  13 , D Meyronet  14   15 , F Ducray  14   15 ; POLA network
Collaborators, Affiliations

Characteristics of IDH-mutant gliomas with non-canonical IDH mutation

L Poetsch et al. J Neurooncol. 2021 Jan.

Abstract

Background: Approximately 10% of IDH-mutant gliomas harbour non-canonical IDH mutations (non-p.R132H IDH1 and IDH2 mutations).

Objective: The aim of this study was to analyse the characteristics of non-canonical IDH-mutant gliomas.

Materials and methods: We retrospectively analysed the characteristics of 166 patients with non-canonical IDH mutant gliomas and compared them to those of 155 consecutive patients with IDH1 p.R132H mutant gliomas.

Results: The median age at diagnosis was 38 years in patients with non-canonical IDH mutant gliomas and 43 years in glioma patients with IDH1 p.R132H-mutant tumours. Family history of cancer was more frequent among glioma patients harbouring non-canonical IDH mutations than in patients with IDH1 p.R132H mutations (22.2% vs 5.1%; P < 0.05). Tumours were predominantly localised in the frontal lobe regardless of the type of IDH mutation. Compared to IDH1 p.R132H-mutant gliomas, tumours with non-canonical IDH mutations were more frequently found in the infratentorial region (5.5% vs 0%; P < 0.05) and were often multicentric (4.8% vs 0.9%; P < 0.05). Compared to IDH1 P.R132H-mutant gliomas, tumours with non-canonical IDH1 mutations were more frequently astrocytomas (65.6% vs 43%, P < 0.05), while those with IDH2 mutations were more frequently oligodendrogliomas (85% vs 48.3%; P < 0.05). The median overall survival was similar in patients with IDH1 p.R132H-mutant gliomas and patients with non-canonical IDH-mutant gliomas.

Conclusion: Gliomas with non-canonical IDH mutations have distinct radiological and histological characteristics. The presence of such tumours seems to be associated with genetic predisposition to cancer development.

Keywords: Infra-tentorial gliomas; Inherited predisposition to cancer; Multicentric gliomas; Non-canonical IDH mutant gliomas.

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