The 2021 WHO Classification of Tumors of the Central Nervous System has identified methylome profiling as “an effective ancillary method for brain and spinal cord tumor classification when used alongside other, standard technologies, including histology.”1
CNS Tumor Classification from DNA Methylation Profiling
The JAX OncoMethyl Array™ utilizes a machine learning algorithm intended to provide supplemental information for the classification of central nervous system (CNS) tumors based on genomic methylation profiling data. 2
The JAX OncoMethyl Array™ utilizes a machine learning algorithm for the classification of central nervous system (CNS) tumors based on genomic methylation profiling data. The JAX OncoMethyl Array™ uses genomic DNA extracted from FFPE tissues (≥70% neoplastic content) that is followed by bisulfite conversion (Zymo Research). Converted DNA undergoes whole genome amplification and is processed utilizing the Infinium MethylationEPIC Array (Illumina). Raw IDAT files are processed through the CNS methylation classifier developed by the Molecular Neuropathology group at the German Cancer Research Center (DKFZ) (PMID: 29539639). Methylation Class Family and Methylation Class calibrated scores are provided by the classifier. During validation, 98% of samples with Methylation Class calibrated scores ≥0.84 were considered “classifiable” and resulted in either confirmation, refinement, or reassignment of diagnosis.
Clinical Sample Acceptance Criteria
Samples that don’t meet the above acceptance criteria may fail to generate useable data.
Please deliver samples to:
The Jackson Laboratory for Genomic Medicine
Attn: Clinical Genomics Laboratory
10 Discovery Drive
Farmington, CT 06032