“Transformation of Polycythemia Vera into Acute Myeloid Leukemia”: A Case Report with Review of the Literature

Abstract

Polycythemia vera (PV), with essential thrombocythemia (ET) and primary myelofibrosis (PMF), belongs to the group of Philadelphia negative myeloproliferative neoplasms (MPN). PV is characterized in virtually all cases by the somatic JAK2 V617F mutation or another functionally similar JAK2 mutation that results in panmyelosis. Two phases of PV are recognized which include an initial polycythemic phase associated with elevated haemoglobin level, elevated haematocrit and increased red blood cells mass, and a later spent phase or post- polycythemic myelofibrosis phase, characterised by cytopenias including anaemia, ineffective haematopoiesis, bone marrow fibrosis, extramedullary haematopoiesis, and hypersplenism. The natural progression of PV includes a low incidence of evolution to a myelodysplastic or blast phase. Leukemic transformation in PV is described as a rare and late event, less common than primary myelofibrosis. The interval between diagnosis and leukemic evolution is highly variable, from a few years to >20 years; which implies a long-lasting exposure to myelosuppressive agents. Among the hematological transformations; evolution to secondary acute myeloid leukemia (AML) is associated with a poor prognosis; here we report a case of an 80 year old woman who progressed unusually to blast phase within two years of diagnosis of PV. The interest of this work lies in the fact that this transformation into AML occurred after a short period of evolution, which is not frequent enough in the literature.