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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.

SUBMITTER: Biczok A

PROVIDER: S-EPMC8244211 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas.

Biczok Annamaria A Strübing Felix L FL Eder Julia M JM Egensperger Rupert R Schnell Oliver O Zausinger Stefan S Neumann Julia E JE Herms Jochen J Tonn Joerg-Christian JC Dorostkar Mario M MM

Acta neuropathologica communications 20210630 1

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: gl ...[more]

PMID: 34193285

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Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas.

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Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas.

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