Improved Quantification of Circulating Tumor <scp>DNA</scp> in Translocation‐Associated Myxoid Liposarcoma by Simultaneous Detection of Breakpoints and Single Nucleotide Variants
By integrating a refined analytical approach for SNVs and SVs, we achieved reliable ctDNA detection that corresponded with the clinical course of the patients' disease. This method enables non-invasive tumor detection in translocation-driven tumors with low mutational burden and can easily be adapted into routine clinical diagnostics.
Authors
- Alexander Runkel (ORCID: https://orcid.org/0000-0002-5283-2322)
- Melanie Boerries (ORCID: https://orcid.org/0000-0002-3670-0602)
- Jurij Kiefer (ORCID: https://orcid.org/0000-0002-1008-4522)
- Adrian Schmid (ORCID: https://orcid.org/0009-0001-4018-1702)
- David Braig (ORCID: https://orcid.org/0000-0002-1267-0840)
- Thomas Pauli (ORCID: https://orcid.org/0000-0002-8381-6624)
- Steffen U. Eisenhardt (ORCID: https://orcid.org/0000-0003-4471-3160)
- Ute Lausch
- Balázs Bogner (ORCID: https://orcid.org/0009-0004-8578-295X)
Institutions
- University of Freiburg (DE)
Publication Details
- Journal
- Cancer Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/cam4.70704
- Citations
- 1
- Primary Topic
- Sarcoma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- Deutsche Forschungsgemeinschaft
- Albert-Ludwigs-Universität Freiburg
- Medizinische Fakultät der Albert-Ludwigs-Universität Freiburg