Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas
Biczok A, Strübing FL, Eder JM, Egensperger R, Schnell O, Zausinger S, Neumann JE, Herms J, Tonn JC, Dorostkar MM (2021)
Publication Type: Journal article
Publication year: 2021
Journal
Book Volume: 9
Pages Range: 119-
Journal Issue: 1
DOI: 10.1186/s40478-021-01222-6
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.
Authors with CRIS profile
Involved external institutions
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Universitätsklinikum Freiburg
Germany (DE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Germany (DE)
Universitätsklinikum Freiburg
Germany (DE)
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
How to cite
APA:
Biczok, A., Strübing, F.L., Eder, J.M., Egensperger, R., Schnell, O., Zausinger, S.,... Dorostkar, M.M. (2021). Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas. Acta Neuropathologica Communications, 9(1), 119-. https://doi.org/10.1186/s40478-021-01222-6
MLA:
Biczok, Annamaria, et al. "Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas." Acta Neuropathologica Communications 9.1 (2021): 119-.
BibTeX: Download