Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas

Autor: Annamaria Biczok, Felix L. Strübing, Julia M. Eder, Rupert Egensperger, Oliver Schnell, Stefan Zausinger, Julia E. Neumann, Jochen Herms, Joerg-Christian Tonn, Mario M. Dorostkar
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-12 (2021)
Druh dokumentu: article
ISSN: 2051-5960
DOI: 10.1186/s40478-021-01222-6
Popis: 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.
Databáze: Directory of Open Access Journals
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