title: [Molecular Genetics as Best Evidence in Glioma Diagnostics].
abstract: The development of a genomic landscape of gliomas has led to the internally consistent, molecularly-based classifiers. However, development of a biologically insightful classification to guide therapy is still ongoing. Further, tumors are heterogeneous, and they change and adapt in response to drugs. The challenge of developing molecular classifiers that provide meaningful ways to stratify patients for therapy remains a major challenge for the field. Therefore, by incorporating molecular markers into the new World Health Organization (WHO) classification of tumors of the central nervous system, the traditional principle of diagnosis based on histologic criteria will be replaced by a multilayered approach combining histologic features and molecular information in an "integrated diagnosis", to define tumor entities as narrowly as possible. We herein review the current status of diagnostic molecular markers for gliomas, focusing on IDH mutation, ATRX mutation, 1p/19q co-deletion, and TERT promoter mutation in adult tumors, as well as BRAF and H3F3A aberrations in pediatric gliomas, the combination of which will be a promising endeavor to render molecular genetics as a best evidence in the glioma diagnositics.
authors.affiliation: Department of Pathology, Tokyo Women's Medical University.
authors.forename: Kenta
authors.initials: K
authors.lastname: Masui
authors.forename: Takashi
authors.initials: T
authors.lastname: Komori
mesh_terms: D005910:Glioma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology / Q000379:methods; D060787:Neoplasm Grading; D009361:Neoplasm Invasiveness; D017410:Practice Guidelines as Topic; D014944:World Health Organization