A case of myeloid sarcoma with correlation to JAK2V617F mutation, complicated by myelofibrosis and secondary acute myeloid leukemia.

The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). This mutation is observed not only in MPNs, but also in chronic myelomonocytic leukemia, myelodysplastic syndrome and acute myeloid leukemia (AML). We report a case of myeloid sarcoma and myelofibrosis, followed by secondary AML, with detection of homozygous JAK2 V617F mutation. This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.