Subclonal emergence of polycythemia vera, chronic myelomonocytic leukemia, and chronic myeloid leukemia.

ABSTRACT: The present longitudinal study reports a unique patient followed over almost three decades who sequentially developed polycythemia vera, chronic myelomonocytic leukemia, and chronic myeloid leukemia. The patient received successive hydroxyurea, ruxolitinib, and a combination of ruxolitinib and nilotinib. The clonal architecture dynamic was reconstructed using targeted high throughput asymmetric capture sequencing, allowing detection and quantification of mutations in 43 myeloid genes and BCR::ABL1 fusion in multiple bone marrow or peripheral blood samples and in single cell-derived colonies obtained from bone marrow colony-forming cell assays. This analysis has uncovered an unexpected subclonal link between three myeloid malignancies, all stemming from a DNMT3A/TET2 double mutant clone. Ov

SUBMITTER: Tran Quang V 

PROVIDER: S-EPMC12334534 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature