JAK2 mutation


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Related to JAK2 mutation: myelofibrosis, polycythemia, polycythemia vera

JAK2 mutation

A mutation found on chromosome 9 in myeloproliferative disorders such as polycythemia vera.
See also: mutation
References in periodicals archive ?
3 A meta-analysis showed that the mean prevalence of MPD and JAK2 mutation was 31.
Mutation in TET2 gene was also found quite often in advanced age MPN patients with or without JAK2 mutation.
For instance, the patient in our case who has JAK2 mutation will require lifelong anti-coagulation.
A JAK2 mutation also shows up in people with polycythemia vera, which is marked by abnormal red blood cell growth.
Malinge S, Ben-Abdelali R, Settegrana C, Radford-Weiss I, Debre M, Beldjord K, Macintyre EA, Villeval JL, Vainchenker W, Berger R, Bernard OA, Delabesse E, Penard-Lacronique V: Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia.
1) Most of the remainder have another JAK2 mutation in exon 12 that has the same effect as JAK2 V617F, resulting in 98% of PV patients having a JAK2 mutation.
Over 50 percent of patients afflicted with myeloproliferative neoplasms carry the JAK2 mutation, and suffer from the overproduction of red blood cells, platelets or fibrous connective tissue.
Furthermore, a significant difference was found in WBCs between wild-type patients (triple negative for JAK2, MPL, and CALR mutations) and patients with JAK2 mutations.
A total of 112 BM biopsies from patients with an initial diagnosis of Ph~ MPNs were analyzed for JAK2 mutation status.
In PV, the JAK2 mutation is present in what percentage of patients?
8) Another new area for molecular testing is the detection of the V617F JAK2 mutation in myeloproliferative disorders.