Lack of National Consensus for the Molecular Investigation of Myeloproliferative Neoplasms

Abstract

The discovery of the JAK2 V617F mutation ten years ago revolutionised the molecular diagnosis of the classical myeloproliferative neoplasms (MPN) of polycythaemia vera, essential thrombocythaemia and primary myelofibrosis with presence of this mutation now considered a major criteria for the diagnosis of these malignancies according to the World Health Organization classification of tumours. 1 Despite these advances, current guidelines maintain the requirement for bone marrow aspirate and biopsy necessary for assessment of morphology and degree of fibrosis critical for therapeutic decisions. While presence or absence of this mutation is beneficial in differentiating between a reactive haematological response (causes include infection, inflammation, tissue damage, hyposplenism, haemorrhage, iron deficiency, malignancy, haemolysis and drug therapy) and a clonal MPN, testing for the JAK2 V617F mutation is becoming an advance test in the initial work up of patients for whom the aforementioned secondary causes have not been fully excluded. The year upon year increase in requests for JAK2 V617F mutation status, despite consistency in the annual number of newly diagnosed MPN patients, has been previously documented. 2