Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas
Abstract: Primary spinal cord astrocytomas are rare, hence few data exist about the prognostic significance of molecular markers. Here we analyze a panel of molecular alterations in association with the clinical course. Histology and genome sequencing was performed in 26 spinal astrocytomas operated upon between 2000 and 2020. Next-generation DNA/RNA sequencing (NGS) and methylome analysis were performed to determine molecular alterations. Histology and NGS allowed the distinction of 5 tumor subgroups: glioblastoma IDH wildtype (GBM); diffuse midline glioma H3 K27M mutated (DMG-H3); high-grade astrocytoma with piloid features (HAP); diffuse astrocytoma IDH mutated (DA), diffuse leptomeningeal glioneural tumors (DGLN) and pilocytic astrocytoma (PA). Within all tumor entities GBM (median OS: 5.5 months), DMG-H3 (median OS: 13 months) and HAP (median OS: 8 months) showed a fatal prognosis. DMG-H3 tend to emerge in adolescence whereas GBM and HAP develop in the elderly. HAP are characterized by CDKN2A/B deletion and ATRX mutation. 50% of PA tumors carried a mutation in the PIK3CA gene which is seemingly associated with better outcome (median OS: PIK3CA mutated 107.5 vs 45.5 months in wildtype PA). This exploratory molecular profiling of spinal cord astrocytomas allows to identify distinct subgroups by combining molecular markers and histomorphology. DMG-H3 tend to develop in adolescence with a similar dismal prognosis like GBM and HAP in the elderly. We here describe spinal HAP with a distinct molecular profile for the first time
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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Acta Neuropathologica Communications. - 9 (2021) , 119, ISSN: 2051-5960
- Ereignis
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Veröffentlichung
- (wo)
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Freiburg
- (wer)
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Universität
- (wann)
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2021
- Urheber
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Biczok, Annamaria
Strübing, Felix
Eder, Julia M.
Egensperger, Rupert
Schnell, Oliver
Zausinger, Stefan
Neumann, Julia
Herms, Jochen
Tonn, Jörg-Christian
Dorostkar, Mario M.
- DOI
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10.1186/s40478-021-01222-6
- URN
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urn:nbn:de:bsz:25-freidok-2196262
- Rechteinformation
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Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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25.03.2025, 13:53 MEZ
Datenpartner
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Beteiligte
- Biczok, Annamaria
- Strübing, Felix
- Eder, Julia M.
- Egensperger, Rupert
- Schnell, Oliver
- Zausinger, Stefan
- Neumann, Julia
- Herms, Jochen
- Tonn, Jörg-Christian
- Dorostkar, Mario M.
- Universität
Entstanden
- 2021
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