Tuesday 8 November 2005
Janus activated kinase 2.
JAK2 duplication by dup(9p) in polycythemia vera (PV)
JAK2 somatic mutations
- de novo acute myeloid leukemias (AML)
- in chronic myeloproliferative disorders (MPDs)
- polycythemia vera (PV)
- essential thombocythaemia (ET)
- primary myelofibrosis (PMF)
The myeloproliferative disorders polycythaemia vera (PV), essential thombocythaemia (ET), and primary myelofibrosis (PMF) are clonal disorders of multipotent haematopoietic progenitors.
The genetic cause of these diseases was not known until 2005, when several independent groups demonstrated that most patients with PV, ET and PMF acquire a single point mutation in the cytoplasmic tyrosine kinase JAK2 (JAK2-V617F).
James C, Ugo V, Casadevall N, Constantinescu SN, Vainchenker W. A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects. Trends Mol Med. 2005 Nov 2; PMID: 16271512