000303504 001__ 303504 000303504 005__ 20250815114533.0 000303504 0247_ $$2doi$$a10.1093/noajnl/vdaf110 000303504 0247_ $$2pmid$$apmid:40800122 000303504 0247_ $$2pmc$$apmc:PMC12342540 000303504 037__ $$aDKFZ-2025-01695 000303504 041__ $$aEnglish 000303504 082__ $$a610 000303504 1001_ $$0P:(DE-He78)d95caa04c2f0929079004f117746b1e1$$aFischer, Tom$$b0$$eFirst author$$udkfz 000303504 245__ $$aCerebrospinal fluid liquid biopsy guides differential diagnosis of relapsed medulloblastoma versus secondary glioma: A case report of a pediatric patient enrolled on a PDGFRA inhibitor trial. 000303504 260__ $$aOxford$$bOxford University Press$$c2025 000303504 3367_ $$2DRIVER$$aarticle 000303504 3367_ $$2DataCite$$aOutput Types/Journal article 000303504 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1755241866_8666 000303504 3367_ $$2BibTeX$$aARTICLE 000303504 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000303504 3367_ $$00$$2EndNote$$aJournal Article 000303504 500__ $$a#EA:B062#LA:B062# 000303504 520__ $$aLiquid biopsies have the potential to substantially transform clinical oncology, but their technical applicability and clinical utility in pediatric neuro-oncology remain to be explored. Here, we present a case of a medulloblastoma patient in which a cerebrospinal fluid liquid biopsy provided an accurate molecular tumor classification of a secondary glioma during follow-up. Using Nanopore sequencing and low-coverage whole genome sequencing pipelines optimized for cell-free DNA, the liquid biopsy revealed a PDGFRA amplification and DNA methylation-based tumor classification consistent with a secondary glioma. These findings guided the tumor board's differential diagnosis of medulloblastoma relapse versus secondary glioma. Notably, the rapid turnaround time of the Nanopore sequencing results enabled timely preparation for enrollment in a PDGFRA inhibitor trial while awaiting confirmatory results from the tissue biopsy. This case exemplifies the advancing frontier of liquid biopsies and provides the rationale for prospective implementation in larger case series and clinical trials in pediatric neuro-oncology. 000303504 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0 000303504 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de 000303504 650_7 $$2Other$$acell-free DNA 000303504 650_7 $$2Other$$acerebrospinal fluid liquid biopsy 000303504 650_7 $$2Other$$amolecular biomarkers 000303504 650_7 $$2Other$$apediatric neuro-oncology 000303504 650_7 $$2Other$$asecondary glioma 000303504 7001_ $$0P:(DE-He78)5100059e746b377e2e0a37c0e24f6bf7$$aMaass, Kendra$$b1$$udkfz 000303504 7001_ $$00000-0002-1373-8130$$aSchoof, Melanie$$b2 000303504 7001_ $$aPuranachot, Pitithat$$b3 000303504 7001_ $$0P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6$$aSievers, Philipp$$b4$$udkfz 000303504 7001_ 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