JAK2 V617F mutation
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Indications
- evaluation of unexplained
- evaluation of splanchnic vein thrombosis[3]
Clinical significance
- present in:
- polycythemia vera (80%)
- idiopathic myelofibrosis (50%)
- essential thrombocythemia (50%)[3]
- splanchnic vein thrombosis (50%)[3]
- molecular mechanism
- mutation is in the pseudokinase autoinhibitory domain resulting in constitutive kinase activity of JAK2 & cytokine hypersensitivity
More general terms
Additional terms
References
- ↑ Vainchenker W and Constantinescu SN Hematology Am Soc Hematol Educ Program. 2005:195-200. A Unique Activating Mutation in JAK2 (V617F) Is at the Origin of Polycythemia Vera and Allows a New Classification of Myeloproliferative Diseases <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/16304380 <Internet> http://asheducationbook.hematologylibrary.org/cgi/content/full/2005/1/195
- ↑ Jump up to: 2.0 2.1 Geriatric Review Syllabus, 7th edition Parada JT et al (eds) American Geriatrics Society, 2010
- ↑ Jump up to: 3.0 3.1 3.2 3.3 Medical Knowledge Self Assessment Program (MKSAP) 17, 19 American College of Physicians, Philadelphia 2015, 2022
- ↑ Yonal I et al The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22569900