JAK2V617F

JAK2V617F is a specific genetic mutation found in the JAK2 gene, which is involved in the regulation of cell growth and differentiation. This mutation is most commonly associated with polycythemia vera (PV), a type of myeloproliferative neoplasm characterized by an abnormal increase in red blood cells. The JAK2V617F mutation results from a single nucleotide polymorphism (SNP) that leads to a valine-to-phenylalanine substitution at position 617 of the JAK2 protein. This mutation is considered a gain-of-function mutation, meaning it causes the JAK2 protein to be more active than normal, leading to uncontrolled cell proliferation.

The JAK2V617F mutation is also found in other myeloproliferative neoplasms, including essential thrombocythemia (ET) and primary myelofibrosis (PMF). In these conditions, the mutation can lead to the overproduction of platelets or the development of fibrosis in the bone marrow, respectively. The presence of the JAK2V617F mutation is a significant prognostic factor in these diseases, as it is associated with a higher risk of transformation to acute myeloid leukemia (AML) and a poorer overall survival.

The diagnosis of JAK2V617F mutation is typically made through genetic testing, such as polymerase chain reaction (PCR) or next-generation sequencing (NGS). Treatment options for patients with JAK2V617F-positive myeloproliferative neoplasms may include medications that target the JAK2 protein, such as ruxolitinib or fedratinib, as well as other therapies aimed at managing symptoms and preventing disease progression.