Biczok, Annamaria;
Strübing, Felix L.;
Eder, Julia M.;
Egensperger, Rupert;
Schnell, Oliver;
Zausinger, Stefan;
Neumann, Julia E.;
Herms, Jochen;
Tonn, Joerg-Christian;
Dorostkar, Mario M.
Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas
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Medientyp:
E-Artikel
Titel:
Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas
Beteiligte:
Biczok, Annamaria;
Strübing, Felix L.;
Eder, Julia M.;
Egensperger, Rupert;
Schnell, Oliver;
Zausinger, Stefan;
Neumann, Julia E.;
Herms, Jochen;
Tonn, Joerg-Christian;
Dorostkar, Mario M.
Erschienen:
Springer Science and Business Media LLC, 2021
Beschreibung:
<jats:title>Abstract</jats:title><jats:p>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.</jats:p>