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Gliomas are the most common type of primary brain tumour and are derived from glial cells of the central nervous system (CNS). They comprise a very heterogeneous group of neoplasms that account for one third of all CNS tumours.
Gliomas are known to feature copy number changes in several oncogenes and tumour suppressor genes. Somatic variants, disruptions, or copy number aberrations in three critical signalling pathways – the RTK/PI3K, the p53, and the RB pathways – have been associated with the development of gliomas. Additionally, TERT promoter variants in combination with IDH alterations and 1p/19q codeletion, are characteristic of oligodendroglioma.
SALSA® MLPA® Probemix P105 Glioma was designed to provide insights on the total copy number of genes associated with gliomas and contains probes targeting the PDGFRA, EGFR, CDKN2A, PTEN, CDK4, MIR26A2, MDM2, NFKBIA and TP53 genes.
P105 Glioma just received a major update that enables a more complete characterization of the genetic landscape of gliomas. The recently released E1 version includes two probes specific for the common TERT C228T and C250T SNVs that will only produce a signal when these variants are present. It also includes two flanking probes targeting the 7q and 10p arms that allow the detection of chromosome 7 gains and chromosome 10 losses.