JAK2 and MPL Screening Profile

Human myeloproliferative disorders form a range of clonal haematological malignant diseases, the main constituents being Polycythaemia Vera (PV), Essential Thrombocytopenia (ET) and Idiopathic Myelofibrosis (MF). They are a heterogeneous group of diseases characterised by excessive production of blood cells by haemopoietic precursors. JAK2V617F is an exon 14 somatic mutation (G to T) resulting in the substitution of valine to phenylalanine at codon 617. JAK2V617F mutations are associated with myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis PMF. MPL mutations are associated with MPNs are restricted to patients with PMF or ET. The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis.