Chronic myelomonocytic leukemia as a transformation from polycythemia vera

摘要

The hallmark of Polycythemia vera (PV) is the presence ofJAK2V617Fmutation and increased RBC mass. Chronic myelomonocytic leukemia (CMML) is defined as persistent blood absolute monocyte count (AMC) >/= 1?×?109/L for at least 3 months with myeloid cell dysplasia. Few cases of evolved CMML from PV have been described. We present a case of PV that progressed to CMML. We demonstrated the CMML clone was most likely derived from PV-JAK2V617Fclone. This clone carried a complex genetic mutations ofASXL1, RUNX1, SRSF2 and TET2, NRAS, KRAS, plus CMML cells were of the classical phenotype CD14+CD16?by flow cytometry.