UPMC Methylation Array, CNS Tumors

Test Description

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.

Background

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).

Methodology

The Infinium HD Methylation Array allows the interrogation of methylation patterns of more than 850,000 methylation sites genome-wide.

Specimen Requirements

Paraffin Embedded Tissue Sections

• Tissue should be fixed in formalin and not exposed to decalcification solution. The paraffin block should contain no less than 3 mm area of tumor and have at least 70% tumor cellularity.
• Slides should be prepared by histology using a specific protocol for cutting molecular sections to avoid contamination of the tissue sections.
• One H&E and 6 unstained sections are required. Ten unstained sections or more are required if the tissue is small. Please call the lab if you have questions.
• Slides should be properly labeled with a block label that matches the surgical pathology specimen number on the surgical pathology report.
• Slides should be sent ambient temperature in proper storage containers (plastic slide boxes) to protect them during shipment.
• A surgical pathology and/or cytology report and completed requisition for must accompany all specimens.

Turnaround Time

10 Business Days

Billing Information

For insurance or institutional prices, please call.