Best of the AANS Session-Discussant: Early Detection of Medulloblastoma Relapse by Genomic Profiling of CSF-Derived Circulating Tumor DNA

Discussant: Early Detection of Medulloblastoma Relapse by Genomic Profiling of CSF-Derived Circulating Tumor DNA

Video Transcription

Video Summary

In this video, Dr. Will Curry from Mass General Hospital discusses the work presented by Raul Kumar and colleagues at St. Jude's in Memphis. Raul won the James T. Rutka Pediatric Brain Tumor Award. The study focuses on liquid biopsy as a less invasive and potentially more accurate way of diagnosing and detecting minimal residual disease in medulloblastoma patients. The researchers harvested free DNA from the CSF of patients at different time points and performed genome-wide copy number variation profiling. The results showed that copy number variation in CSF was highly concordant with solid medulloblastoma samples and was more accurate in predicting disease recurrence than MRI. This study is an important step towards detecting genetic material in the CSF of certain medulloblastoma subtypes.

Asset Caption

William T. Curry, Jr., MD, FAANS

Keywords

liquid biopsy

minimal residual disease

CSF

copy number variation

medulloblastoma subtypes