<p>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.</p>

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Copy-number alterations in cell-free DNA can be transient or harbingers of clonal hematopoiesis

  • Stefania Tuveri,
  • Nathalie Brison,
  • Tatjana Jatsenko,
  • Barbara Dewaele,
  • Cindy Melotte,
  • Charlotte Maggen,
  • Vincent Vandecaveye,
  • Peter Vandenberghe,
  • Frederic Amant,
  • Liesbeth Lenaerts,
  • Joris R. Vermeesch

摘要

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.