TY  - JOUR
AU  - Fischer, Tom
AU  - Maass, Kendra
AU  - Schoof, Melanie
AU  - Puranachot, Pitithat
AU  - Sievers, Philipp
AU  - Montigel, Sophia
AU  - Fluhr, Theresa
AU  - El Damaty, Ahmed
AU  - Seitz, Angelika
AU  - Harrabi, Semi
AU  - Schramm, Kathrin
AU  - Sturm, Dominik
AU  - Jones, David
AU  - Pfister, Stefan
AU  - Witt, Olaf
AU  - van Tilburg, Cornelis Martinus
AU  - Milde, Till
AU  - Schüller, Ulrich
AU  - Pajtler, Kristian
TI  - 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.
JO  - Neuro-oncology advances
VL  - 7
IS  - 1
SN  - 2632-2498
CY  - Oxford
PB  - Oxford University Press
M1  - DKFZ-2025-01695
SP  - vdaf110
PY  - 2025
N1  - #EA:B062#LA:B062#
AB  - 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.
KW  - cell-free DNA (Other)
KW  - cerebrospinal fluid liquid biopsy (Other)
KW  - molecular biomarkers (Other)
KW  - pediatric neuro-oncology (Other)
KW  - secondary glioma (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40800122
C2  - pmc:PMC12342540
DO  - DOI:10.1093/noajnl/vdaf110
UR  - https://inrepo02.dkfz.de/record/303504
ER  -