Masked polycythaemia vera is genetically intermediate between JAK2V617F mutated essential thrombocythaemia and overt polycythaemia vera

摘要

Polycythaemia vera (PV) can be defined as a myeloproliferative neoplasm (MPN) with erythrocytosis and JAK2 V617F (or an equivalent marker of clonality). While these simple criteria are sufficient for most cases of overt PV, an estimated 10–15% of PV patients do not have an elevated haemoglobin concentration (Hb) and may mimic JAK2 -positive essential thrombocythaemia (ET).