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

Abstract

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.