Dec 7, 2019

The central nervous system tumor methylation classifier changes neuro-oncology practice for challenging brain tumor diagnoses and directly impacts patient care

Clinical Epigenetics
Shirin KarimiGelareh Zadeh

Abstract

Molecular signatures are being increasingly incorporated into cancer classification systems. DNA methylation-based central nervous system (CNS) tumor classification is being recognized as having the potential to aid in cases of difficult histopathological diagnoses. Here, we present our institutional clinical experience in integrating a DNA-methylation-based classifier into clinical practice and report its impact on CNS tumor patient diagnosis and treatment. Prospective case review was undertaken at CNS tumor board discussions over a 3-year period and 55 tumors with a diagnosis that was not certain to two senior neuropathologists were recommended for methylation profiling based on diagnostic needs. Tumor classification, calibrated scores, and copy number variant (CNV) plots were obtained for all 55 cases. These results were integrated with histopathological findings to reach a final diagnosis. We retrospectively reviewed each patient's clinical course to determine final neuro-pathology diagnoses and the impact of methylation profiling on their clinical management, with a focus on changes that were made to treatment decisions. Following methylation profiling, 46 of the 55 (84%) challenging cases received a clinically relevant di...Continue Reading

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Mentioned in this Paper

Biological Markers
Clinical Management
Decision Making
Classification
Clinical Decision-Making
Neoplasms
WHO Tumor Classification
DNA Methylation
Patient Care
World Health Organization

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