Out of 479 cases, 439 (91.6%) were diagnosed with glioblastoma (GBM).
The study investigated molecular diagnostics of IDH-wildtype diffuse astrocytic gliomas.
In addition to established genetic alterations, PTEN and EGFR mutations were found to be enriched in GBM.
Patients with mutations in the mTOR pathway showed a more favorable prognosis and some had characteristics resembling a different tumor type.
Among those with lacking typical GBM features, exceptional survival outcomes were observed despite having high-grade histology.
Integrating molecular features improved the diagnostic accuracy for IDH-wildtype gliomas.
Certain molecular alterations associated with GBM could inform more effective glioma classification.
Simplified
The accurate diagnosis and classification of gliomas are essential for appropriate treatment planning and prognosis prediction. This study aimed to investigate the molecular diagnostics of IDH-wildtype diffuse astrocytic gliomas and identify potential genetic variants that could differentiate glioblastoma (GBM) from lower-grade gliomas when DNA methylation analysis is not feasible. In total, 479 H3-and IDH-wildtype diffuse astrocytic gliomas were included in this study. All the cases were diagnosed according to the 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumors. Panel sequencing data were collected, and clinicopathological information was retrieved from medical records. Genetic alterations and histological findings were analyzed to determine their diagnostic utility and prognostic implications. Out of 479 cases, 439 (91.6%) were diagnosed with GBM, including 28 cases that were molecularly diagnosed as GBM. However, 40 (8.4%) cases could not be classified according to the 2021 WHO classification and were diagnosed as (LGNEC). In addition to the three genetic alterations included in the diagnostic criteria of GBM, PTEN and EGFR mutations were found to be enriched in GBM. Patients harboring demonstrated a more favorable prognosis and often exhibited morphology resembling subependymal giant cell astrocytoma, along with a high tumor mutational burden. Among patients with mTOR pathway mutations, those lacking molecular diagnostic features of GBM exhibited outstanding survival outcomes, even in the presence of grade 4 histology. Integration of molecular features enhanced the diagnostic accuracy of IDH-wildtype gliomas. Some molecular alterations enriched in GBM offer valuable insights for molecular diagnosis and glioma classification. Furthermore, high-grade diffuse astrocytic gliomas featuring mTOR pathway mutations in the absence of molecular diagnostic features of GBM could represent more favorable tumor types distinct from GBM.
Key numbers
439 of 479
GBM Diagnosis Rate
Total cases diagnosed with glioblastoma
17.6%
mTOR Pathway Mutation Survival
Oncogenic among cases analyzed
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