Work

Cerebrospinal fluid liquid biopsy guides differential diagnosis of relapsed medulloblastoma versus secondary glioma: A case report of a pediatric patient enrolled on a PDGFRA inhibitor trial

Year: 2025

Type: article

Abstract: Liquid biopsies have the potential to substantially transform clinical oncology, but their technical applicability and clinical utility in pediatric neuro-oncology remain to be explored. Here, we present a case of a medulloblastoma patient in which a cerebrospinal fluid liquid biopsy provided an accurate molecular tumor classification of a secondary glioma during follow-up. Using Nanopore sequencing and low-coverage whole genome sequencing pipelines optimized for cell-free DNA, the liquid biopsy revealed a PDGFRA amplification and DNA methylation-based tumor classification consistent with a secondary glioma. These findings guided the tumor board’s differential diagnosis of medulloblastoma relapse versus secondary glioma. Notably, the rapid turnaround time of the Nanopore sequencing results enabled timely preparation for enrollment in a PDGFRA inhibitor trial while awaiting confirmatory results from the tissue biopsy. This case exemplifies the advancing frontier of liquid biopsies and provides the rationale for prospective implementation in larger case series and clinical trials in pediatric neuro-oncology.

Source: Neuro-Oncology Advances

DOI: 10.1093/noajnl/vdaf110