Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas
作者： Jane B. Cryan , Sam Haidar , Lori A. Ramkissoon , Wenya Linda Bi , David S. Knoff
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摘要: Classifying adult gliomas remains largely a histologic diagnosis based on morphology; however astrocytic, oligodendroglial and mixed lineage tumors can display overlapping features. We used multiplexed exome sequencing (OncoPanel) 108 primary or recurrent gliomas, comprising 65 oligodendrogliomas, 28 astrocytomas 15 oligoastrocytomas to identify lesions that could enhance classification. Mutations in TP53 (20/28, 71%) ATRX (15/28, 54%) were enriched astrocytic compared of which 4/65 (6%) had mutations 2/65 (3%) mutations. found harbored (80%, 12/15) (60%, 9/15) at frequencies similar pure tumors, suggesting may represent single genetic biological entity. p53 protein expression correlated with mutation status showed significant increases finding also facilitate accurate Furthermore our OncoPanel analysis revealed 15% IDH1/2 mutant would not be detected by traditional IDH1 (p.R132H) antibody testing, supporting the use genomic technologies providing clinically relevant data. In all, results demonstrate support evaluation classification low-grade clinical test.
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