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A test that reads the methylation pattern of a brain tumour's DNA and matches it to a reference library, giving a more reliable diagnosis than the microscope alone.
Brain tumour diagnosis by microscopy is notoriously inconsistent. In 2018 the Heidelberg group published a machine-learning classifier that assigns tumours to one of more than eighty methylation classes from a genome-wide methylation array, reclassifying a meaningful share of cases and revealing new entities. The approach is now embedded in the WHO classification of central nervous system tumours and used in reference neuropathology centres.
DNA methylation is measured on an array, and a random-forest classifier trained on thousands of reference tumours returns the best-matching class with a calibrated score.
Query for this technology: (TITLE:"Methylation classifier for brain tumours" OR ABSTRACT:"Methylation classifier for brain tumours") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about Methylation classifier for brain tumours, not a curated reading list.
Shares Ependymoma molecular groups (PF-A, PF-B, ZFTA, YAP1, MYCN), Medulloblastoma molecular groups (WNT, SHH, group 3, group 4), 1p/19q codeletion, Glioma & glioblastoma.
Shares DNA methylation arrays and beta values (450k, EPIC), 1p/19q codeletion, DNA methylation profiling, Glioma & glioblastoma.
Shares Ependymoma molecular groups (PF-A, PF-B, ZFTA, YAP1, MYCN), Medulloblastoma molecular groups (WNT, SHH, group 3, group 4).
Shares Ependymoma molecular groups (PF-A, PF-B, ZFTA, YAP1, MYCN), Brain and spinal cord tumours (all types), DNA methylation profiling.
Shares Brain and spinal cord tumours (all types), Childhood cancers (all types).
Shares Ependymoma molecular groups (PF-A, PF-B, ZFTA, YAP1, MYCN), DNA methylation profiling, Glioma & glioblastoma.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
Classifies central nervous system tumours within the operation from sparse nanopore methylation data, so the surgeon can adapt the resection.
The published training code for the Heidelberg DNA methylation-based classification of central nervous system tumours.
Copy-number analysis from DNA methylation arrays, the companion tool of the brain tumour methylation classifier.