Circulating hematopoietic stem and progenitor cells in myeloproliferative neoplasms

MF is defined in circulating hematopoietic stem and progenitor cells by lymphoid progenitor depletion with erythroid and megakaryocyte progenitor enrichment, enabling quantitative disease mapping.

• Why it matters: Bone marrow biopsy for myelofibrosis is invasive, variable, and often non-diagnostic, leaving a need for noninvasive, reliable diagnosis and monitoring.
• What they did: The study profiled 564,147 circulating cHSPCs from 109 MPN patients with somatic mutation analysis, defining MF via compositional and gene-program deviations from a healthy reference.
• The result: Classifiers distinguished MF from PV, ET, myelodysplastic syndromes, and cytopenias, and assigned high MF probability to three of four PV/ET patients months to years before documented progression.