Open access
Sep 2026
Intense TP53 pathway selection drives clonal evolution from bone marrow failure to leukemia in ERCC6L2 disease
ERCC6L2 disease (ED) is an inherited bone marrow failure (BMF) syndrome that progresses almost exclusively to erythroid, TP53-mutated myeloid malignancy, but the somatic evolution underlying the progression in patients is unknown. We characterized the genetic landscape of 29 ED patients with longitudinal sampling, inte...
S. Douglas, I. Kaaja, I. Ikonen et al.
· medRxiv · 0 citations