Pathologists are responsible for the accurate classification (or categorization) of human diseases, including cancers (e.g. distinguishing breast cancer metastatic to the lung from primary lung cancer).
Only when appropriately classified can patients with cancers receive the optimal site-specific treatments. While the examination of tissue samples under the microscope by pathologists is usually sufficient for achieving this end, there often remains a small percentage of cases that are subject to diagnostic discrepancies and/or may be otherwise difficult to classify.
For this, DNA-methylation profiling, by providing tumor tissue-of-origin signatures (e.g. breast versus lung), is a potentially useful adjunct. While recent research studies produced very promising results, the profiling technology itself is technically demanding and may be difficult for clinical laboratories to adopt. Accordingly, the goal of this project to simplify methylation-based cancer classification, in part by reducing the number of markers needed. In a preliminary study, using just 28 selected markers (rather than all 27 thousand available markers), we were able to correctly assign ~90% of >1000 cancer cases to their tissues-of-origins.
With funding, we will perform additional analyses and test additional samples with the goal of designing a practical and effective methylation-based test that could be validated for routine clinical use in a follow-up study. All studies funded by the OMPRN also have an educational objective for trainee pathologists or early career pathologists. Ensuring new researchers have experience in conducting or leading studies helps the OMPRN to develop the next generation of molecular pathology leaders in cancer research.