Cerebrospinal fluid liquid biopsy guides differential diagnosis of relapsed medulloblastoma versus secondary glioma: A case report of a pediatric patient enrolled on a <i>PDGFRA</i> inhibitor trial
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 <i>PDGFRA</i> 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 <i>PDGFRA</i> 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.
Authors
- Semi Harrabi (ORCID: https://orcid.org/0000-0003-1195-7150)
- Ahmed El Damaty (ORCID: https://orcid.org/0000-0003-0146-8943)
- Kristian W. Pajtler (ORCID: https://orcid.org/0000-0002-3562-6121)
- Dominik Sturm (ORCID: https://orcid.org/0000-0003-0250-1696)
- Melanie Schoof (ORCID: https://orcid.org/0000-0002-1373-8130)
- Theresa Leonie Fluhr
- Till Milde (ORCID: https://orcid.org/0000-0002-7267-1052)
- Stefan M. Pfister (ORCID: https://orcid.org/0000-0002-5447-5322)
- Tom T. Fischer (ORCID: https://orcid.org/0000-0002-2138-9102)
- Philipp Sievers (ORCID: https://orcid.org/0000-0003-3237-6021)
- Cornelis Martinus van Tilburg (ORCID: https://orcid.org/0000-0001-5274-910X)
- Ulrich Schüller (ORCID: https://orcid.org/0000-0002-8731-1121)
- Angelika Seitz (ORCID: https://orcid.org/0000-0002-6380-5012)
- Kendra K. Maaß (ORCID: https://orcid.org/0000-0001-9357-5038)
- Pitithat Puranachot (ORCID: https://orcid.org/0000-0002-6786-9240)
- David Jones (ORCID: https://orcid.org/0000-0002-2036-5141)
- Olaf Witt (ORCID: https://orcid.org/0000-0003-3918-9157)
- Sophia H. Montigel
- Kathrin Schramm (ORCID: https://orcid.org/0009-0006-7355-6378)
Institutions
- Universität Hamburg (DE)
- German Cancer Research Center (DE)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Comprehensive Cancer Center Mainfranken (DE)
- Chulabhorn Hospital (TH)
- University Medical Center Hamburg-Eppendorf (DE)
- Kinderkrebs-Zentrum Hamburg (DE)
- National Center for Tumor Diseases (DE)
- Hopp Children's Cancer Center Heidelberg (DE)
- Royal Academy of Fine Arts (SE)
- Jena University Hospital (DE)
- Friedrich Schiller University Jena (DE)
- Heidelberg University (US)
Publication Details
- Journal
- Neuro-Oncology Advances
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1093/noajnl/vdaf110
- Primary Topic
- Glioma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsches Krebsforschungszentrum
- Bundesministerium für Bildung und Forschung
- Bundesministerium für Gesundheit
- Deutsche Krebshilfe
- Deutsche Kinderkrebsstiftung
- Deutschen Konsortium für Translationale Krebsforschung