The UPMC Methylation Array assay evaluates the whole genome methylation profile and classifies CNS tumors based on the Heidelberg Methylation Classifier. Additionally, this assay also assesses the methylation status of the O-6-Methylguanine-DNA Methyltransferase (MGMT) promoter, which has therapeutic significance in CNS tumors.
Alterations in DNA methylation may be associated with a wide range of diseases, including central nervous system (CNS) tumors. Multiple studies have demonstrated the utility of methylation profiling for the diagnosis and/or subclassification of CNS tumors. Methylation profiling, in combination with clinical, radiological, morphological, and other molecular evaluation, can assist with accurate diagnosis and subclassification of CNS tumors. Accurate diagnosis and/or subclassification of these tumors is important for establishing the appropriate treatment algorithm because the clinical approach may vary between otherwise similar appearing entities. An increasing number of novel CNS tumor entities are defined by their methylation profile. Additionally, methylation profiling may help to identify prognostically relevant molecular subtypes among certain entities (ex. medulloblastoma, posterior fossa ependymoma).
The Infinium HD Methylation Array allows the interrogation of methylation patterns of more than 850,000 methylation sites genome-wide.
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