Infratentorial IDH-mutant astrocytoma is a distinct subtype
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ORIGINAL PAPER
Infratentorial IDH‑mutant astrocytoma is a distinct subtype Rouzbeh Banan1 · Damian Stichel2 · Anja Bleck1 · Bujung Hong3 · Ulrich Lehmann4 · Abigail Suwala2,5 · Annekathrin Reinhardt2,5 · Daniel Schrimpf2,5 · Rolf Buslei6 · Christine Stadelmann7 · Karoline Ehlert8 · Marco Prinz9 · Till Acker10 · Jens Schittenhelm11 · David Kaul12 · Leonille Schweizer13,14 · David Capper13,14 · Patrick N. Harter15,16,17,18 · Nima Etminan19 · David T. W. Jones20,21,22 · Stefan M. Pfister20,21,23,24 · Christel Herold‑Mende25 · Wolfgang Wick20,26 · Felix Sahm2,5 · Andreas von Deimling2,5,20 · Christian Hartmann1 · David E. Reuss2,5 Received: 26 June 2020 / Revised: 10 July 2020 / Accepted: 10 July 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Diffuse IDH-mutant astrocytic tumors are rarely diagnosed in the cerebellum or brainstem. In this multi-institutional study, we characterized a series of primary infratentorial IDH-mutant astrocytic tumors with respect to clinical and molecular parameters. We report that about 80% of IDH mutations in these tumors are of non-IDH1-R132H variants which are rare in supratentorial astrocytomas. Most frequently, IDH1-R132C/G and IDH2-R172S/G mutations were present. Moreover, the frequencies of ATRX-loss and MGMT promoter methylation, which are typically associated with IDH mutations in supratentorial astrocytic tumors, were significantly lower in the infratentorial compartment. Gene panel sequencing revealed two samples with IDH1-R132C/H3F3A-K27M co-mutations. Genome-wide DNA methylation as well as chromosomal copy number profiling provided further evidence for a molecular distinctiveness of infratentorial IDH-mutant astrocytomas. Clinical outcome of patients with infratentorial IDH-mutant astrocytomas is significantly better than that of patients with diffuse midline gliomas, H3K27M-mutant (p
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