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Currently, there is limited information available regarding the clinical features, pathological findings, and detailed molecular characteristics of pleomorphic xanthoastrocytoma (PXA) and epithelioid glioblastoma (eGBM).
In this study, we examined 11 PXA cases [9 grade 2 PXA (PXA G2) and 2 grade 3 PXA (PXA G3)] as well as 15 eGBM cases to investigate their histopathological and molecular associations.
Morphologically, PXA and eGBM exhibited distinct histological features. However, immunohistochemical analysis revealed no consistent differences between these glioma subtypes, with the exception of the Ki-67 labeling index. BRAF V600E mutation was detected in 60.0% of PXA cases and 85.7% of eGBM cases through immunohistochemistry (IHC) and/or sequencing, with complete concordance between the two methods. Molecular analysis further revealed that TERT promoter (TERT-p) mutation and copy number abnormalities were more prevalent in eGBM than in PXA.
In conclusion, PXA and eGBM share similar clinical characteristics but exhibit different histological features. From a molecular perspective, PXA and eGBM belong to the same category and progress through the accumulation of genetic abnormalities, including TERT-p mutations, CDKN2A/B deletions, and TP53 mutations, based on the presence of BRAF mutation; however, larger sample sizes are required for validation.
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