Abstract
Recently, several studies focused on the genetics of gliomas. This allowed identifying several germline loci that contribute to individual risk for tumor development, as well as various somatic mutations that are key for disease classification. Unfortunately, none of the germline loci clearly confers increased risk per se. Contrariwise, somatic mutations identified within the glioma tissue define tumor genotype, thus representing valid diagnostic and prognostic markers. Thus, genetic features can be used in glioma classification and guided therapy. Such copious genomic variabilities are screened routinely in glioma diagnosis. In detail, Sanger sequencing or pyrosequencing, fluorescence in-situ hybridization, and microsatellite analyses were added to immunohistochemistry as diagnostic markers. Recently, Next Generation Sequencing was set-up as an all-in-one diagnostic tool aimed at detecting both DNA copy number variations and mutations in gliomas. This approach is widely used also to detect circulating tumor DNA within cerebrospinal fluid from patients affected by primary brain tumors. Such an approach is providing an alternative cost-effective strategy to genotype all gliomas, which allows avoiding surgical tissue collection and repeated tumor biopsies. This review summarizes available molecular features that represent solid tools for the genetic diagnosis of gliomas at present or in the next future.
Highlights
The term “glioma” is commonly used to indicate solid tumors of the central nervous system (CNS) that may arise from and share histologic features with normal glial cells, namely astrocytes, oligodendrocytes, and ependymal cells
Zacher et al used a 20-gene panel for an integrated histological and molecular diagnosis of 111 diffuse gliomas, allowing a re-classification of oligoastrocytoma and glioblastoma by IDH-status and identification of tumours with H3F3A mutations [104]. These approaches based on selected genes represent a promising diagnostic tool in clinical routine, they show a limitation in detecting rare genetic aberrations that are known to contribute to the pathogenesis of gliomas
Genetic analysis is key to identify molecular features of glioma tissue, to identify germline loci that contribute to individual risk for tumor development, and to select potential biomarkers useful for clinical applications
Summary
The term “glioma” is commonly used to indicate solid tumors of the central nervous system (CNS) that may arise from and share histologic features with normal glial cells, namely astrocytes, oligodendrocytes, and ependymal cells On this basis, gliomas are roughly classified as astrocytomas, oligodendrogliomas, and ependymomas, with each group including tumor subtypes that own different ranges of biological malignancy. Methylation profiling may be added to histological and standard genetic approaches to classify brain tumors, potentially refining future classifications [6] In this scenario, tumor classification according to molecular subtypes represents a diagnostic, prognostic, and potentially therapeutic. These molecular markers may overwrite the histological phenotype, which may significantly impact treatment options in each patient This review summarizes those main molecular and genetic features of gliomas that may represent solid tools for the genetic diagnosis at present and in the future
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
