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The incorporation of high- and low-JAK2V617F mutation status divides PMF patients into two groups: patients with either high JAK2V617F allele burden, mutated CALR, or mutated MPL had a median survival of 104 months (95%CI: 86122 months), whereas patients with low JAK2V617F allele burden or triple-negative mutation
JAK2 mutation should not be present in the normal population; it is a sign of a hematologic condition but not specific. It is more common in patients with polycythemia vera or myelofibrosis but also can be seen in those with myelodysplastic syndromes (MDS) and leukemias.
The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.
The JAK2 mutation test may be used, along with other tests such as erythropoietin, to help diagnose bone marrow disorders that lead to overproduction of blood cells. These conditions are known as myeloproliferative neoplasms (MPNs).
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