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The discovery of the JAK2 V617F mutation has undoubtedly revolutionised the diagnosis of the classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) with the mutation present in greater than 95% of polycythaemia vera (PV) patients, approximately 50% of patients with essential thrombocythaemia (ET) and primary myelofibrosis (PMF) and, to a lesser degree, in a number of other myeloid malignancies such as refractory anaemia with ringed sideroblasts with thrombocytosis, chronic myelomonocytic leukaemia and acute myeloid leukaemia. Detection of this mutation is beneficial in differentiating between a reactive haematological response and a true clonal disorder and can also serve as a target for therapeutic intervention.1 Current guidelines for the diagnosis of PV, ET and PMF maintain the requirement for inclusion and/or exclusion of numerous other clinical and laboratory parameters such as histopathological examination of a bone marrow biopsy.2–4 Molecular testing for the presence of the JAK2 V617F mutation is now not only used for …
Contributors This manuscript is the sole work of the author.
Competing interests None declared.
Ethics approval Review from central laboratory testing. Ethics committee approval required from referral centres.
Provenance and peer review Not commissioned; externally peer reviewed.