Copy-number alterations in cell-free DNA can be transient or harbingers of clonal hematopoiesis
Genome-wide plasma cfDNA pan-cancer screening of 1002 healthy elderly identified 15 individuals with CNAs of unknown origin. Nine participants were reassessed over 3-5 years through health questionnaires, WB-MRI, and cfDNA and blood analyses. CNAs resolved in two cases but persisted in seven mainly associated with low-grade clonal mosaicism. These findings suggest cfDNA CNAs may be transient or serve as early markers of clonal mosaicism, preceding clinical detection by years.
Authors
- Frédéric Amant (ORCID: https://orcid.org/0000-0002-5452-4905)
- Barbara Dewaele (ORCID: https://orcid.org/0000-0002-1183-5228)
- Stefania Tuveri (ORCID: https://orcid.org/0000-0003-4051-4295)
- Charlotte Maggen (ORCID: https://orcid.org/0000-0002-7485-0839)
- Vincent Vandecaveye (ORCID: https://orcid.org/0000-0002-0800-3279)
- Tatjana Jatsenko (ORCID: https://orcid.org/0000-0002-7423-0963)
- Joris Robert Vermeesch (ORCID: https://orcid.org/0000-0002-3071-1191)
- Liesbeth Lenaerts (ORCID: https://orcid.org/0000-0003-3565-2319)
- Peter Vandenberghe (ORCID: https://orcid.org/0000-0003-4719-1935)
- Nathalie Brison
- Cindy Melotte
Institutions
- The Netherlands Cancer Institute (NL)
- The European Academy of Gynaecological Surgery (BE)
- Europe Hospitals (BE)
- KU Leuven (BE)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-03-25
- DOI
- https://doi.org/10.1038/s41698-025-00877-x
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fonds Wetenschappelijk Onderzoek
- KU Leuven
- Kom op tegen Kanker
- Vlaamse regering
- Universitaire Ziekenhuizen Leuven, KU Leuven