JAK2V617F mutation and allele burden are associated with distinct clinical and morphological subtypes in patients with essential thrombocythaemia

摘要

Essential thrombocythaemia (ET) is a chronic myeloproliferative neoplasm (MPN) that primarily involves the megakaryocytic lineage. The JAK2~(V617F) mutation has been detected in 50-60% of ETs, and homozy-gous mutation in only 5%. JAK2~(V617F) mutation has been associated with a polycythaemia vera (PV)-like phenotype and increased risk of thrombosis, especially in homozygous patients. Increasing mutant allele load was correlated with older age, splenomegaly, microvessel symptoms and higher frequency of arterial thrombosis at diagnosis.