Uncommon Evolution From Acute Myeloid Leukaemia to JAK2-Mutated Myeloproliferative Neoplasm: Evidence of Clonal Persistence and Divergence From TET2/SRSF2-Mutated Haematopoietic Progenitors.
Mark Anthony Turingan, Ehsan Bahrami Hezaveh, Cuihong Wei, Verna Cheung, Dawn Maze, Hong Chang
Abstract
Open AccessBackground: The emergence of JAK2-mutated myeloproliferative neoplasms (MPNs) after remission from acute myeloid leukaemia (AML) is exceedingly rare. Case Description: This case series describes two patients who developed JAK2-mutated MPNs years after achieving AML remission, each retaining persistent TET2 and SRSF2 mutations while losing AML-defining mutations. Pathogenetic Insight: Findings support clonal persistence from a shared haematopoietic progenitor with divergent progression into distinct myeloid neoplasms. A two-pathway model is proposed to explain this trajectory. Implications: These observations highlight the biological relevance of CHIP-associated mutations and underscore the value of post-remission molecular surveillance to detect emerging secondary neoplasms in AML survivors. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.