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A mutation in the JAK2 kinase (V617F) is strongly associated with polycythemia vera. [18] [19] While it is a JAK2 V617F mutation in 95% of patients, JAK2 exon 12 mutations have also been observed. [20] The V617F mutation is not inherited, but develops as a somatic mutation in the erythroid progenitor cells. [21]
Polycythemia vera (PV) is associated most often with the JAK2 V617F mutation greater than 95% of cases, whereas the remainder has a JAK2 exon 12 mutations. High hemoglobin or hematocrit counts are required, as is a bone marrow examination showing "prominent erythroid , granulocytic and megakaryocytic proliferation with pleomorphic, mature ...
A hallmark of polycythemia vera is an elevated hematocrit, with Hct > 55% seen in 83% of cases. [19] A somatic (non-hereditary) mutation (V617F) in the JAK2 gene, also present in other myeloproliferative disorders, is found in 95% of cases. [20]
All mutations (insertions or deletions) affected the last exon, generating a reading frame shift of the resulting protein, that creates a novel terminal peptide and causes a loss of endoplasmic reticulum KDEL retention signal. [9] [10] There are three known genetic mutations that cause ET. The most common genetic mutation is a JAK2 mutation.
Once the reactive causes of thrombocythemia are ruled out, clonal thrombocythemia should be considered. The most common cause of clonal thrombocythemia is a myeloproliferative neoplasm. These include: essential thrombocythemia, chronic myelogenous leukemia, polycythemia vera, and primary myelofibrosis. [8]
Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase.It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family (IL-3R, IL-5R and GM-CSF-R), the gp130 receptor family (e.g., IL-6R), and the single chain receptors (e.g. Epo-R, Tpo-R, GH-R, PRL-R).
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These mutations are not specific to myelofibrosis, but are observed in other myeloproliferative neoplasms, specifically polycythemia vera and essential thrombocythemia. [ 3 ] The JAK2 protein is mutated giving risk to a variant protein with an amino acid substitution commonly referred to as V617F; the mutation causing this variant is found in ...