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JAK2 V617F mutation

Indications: - evaluation of unexplained - leukocytosis - erythrocytosis (polycythemia vera) - thrombocytosis (essential thrombocythemia) [2] - evaluation of splanchnic vein thrombosis [3] Clinical significance: 1) present in: a) polycythemia vera (80%) b) idiopathic myelofibrosis (50%) c) essential thrombocythemia (50%) [3] d) splanchnic vein thrombosis (50%) [3] 2) molecular mechanism - mutation is in the pseudokinase autoinhibitory domain resulting in constitutive kinase activity of JAK2 & cytokine hypersensitivity

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Janus Kinase 2 (JAK2)

General

JAK2 mutation

References

  1. 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 PMID: 16304380 http://asheducationbook.hematologylibrary.org/cgi/content/full/2005/1/195
  2. Geriatric Review Syllabus, 7th edition Parada JT et al (eds) American Geriatrics Society, 2010
  3. Medical Knowledge Self Assessment Program (MKSAP) 17, 19 American College of Physicians, Philadelphia 2015, 2022
  4. Yonal I et al The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. PMID: 22569900