关键词: 1p/19q IDH Oligoastrocytoma T2-FLAIR mismatch

Mesh : Adult Astrocytoma / genetics pathology Biomarkers, Tumor / analysis Brain Neoplasms / genetics pathology Female Genotype Humans Isocitrate Dehydrogenase / genetics Mutation Oligodendroglioma / pathology Repressor Proteins / genetics Telomerase / genetics Tumor Suppressor Protein p53 / genetics X-linked Nuclear Protein / genetics

来  源:   DOI:10.1186/s40478-020-00998-3   PDF(Sci-hub)   PDF(Pubmed)

Abstract:
A case of a true dual-genotype IDH-mutant oligoastrocytoma with two different cell types within a single mass in a young woman is presented. Imaging findings of the left frontal infiltrating glioma predicted the two neoplastic components that were identified upon resection. Tissue examination demonstrated areas of tumor with contrasting histologic and molecular features, including specific IDH1, ATRX, TP53, TERT and CIC mutational profiles, consistent with oligodendroglioma and astrocytoma, respectively. The clinical and radiological course over 17 months from first diagnosis included three surgical resections with slow progression of the astrocytic component, and ultimately chemotherapy and radiation treatments were commenced. Reports of the clinical courses for these rare cases of dual-genotype oligoastrocytomas will inform therapy choices, to optimize benefit while minimizing side effects. The steadily increasing number of cases suggests that the neoplasm might be reconsidered as an official entity by the WHO.
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