Study of Clonal Patterns in ASXL1-Mutated Primary and Secondary Myelofibrosis to Understand Prognosis

What this Trial Is About

Researchers are investigating the clonal architecture of ASXL1-mutated primary and secondary myelofibrosis to better understand its impact on patient prognosis. This study aims to clarify inconsistent findings about the prognostic value of ASXL1 mutations by evaluating a group of 50 patients. The goal is to refine how these mutations affect outcomes like survival and disease progression. Participants will have blood samples collected within 18 months of diagnosis. The study involves determining clonal architecture through sorting circulating CD34 positive cells, cell culture with colony genotyping, andor single-cell DNA sequencing. Additionally, a transcriptomic study using RNA sequencing will explore functional characteristics of each clonal subtype. This research is conducted as part of a multicenter cohort under the University Hospital, Angers. Patients will be followed for 4 years as part of their usual care, during which researchers will collect data on survival and leukemic transformation. Outcomes include identifying subgroups based on clonal architecture at 24 months and evaluating overall and leukemia-free survival at 4 years. Various clinical and laboratory parameters like age, blood counts, LDH levels, and symptom presence will also be compared within clonal subtypes to understand their prognostic significance.

Clonal Architecture of ASXL1-mutated Myelofibrosis