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JAK2 Mutation

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Also known as: Janus Kinase 2
Formal name: JAK2 V617F; JAK2 Exon 12 Mutation

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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used. To access online sources, copy and paste the URL into your browser.

Sources Used in Current Review

Nagalla, S. and Besa, E. (2016 December 2 Updated). Polycythemia Vera Workup. Medscape Drugs and Diseases. Available online at http://emedicine.medscape.com/article/205114-workup#c5. Accessed on 1/22/17.

Lal, A. (2016 November 10 Updated). Essential Thrombocytosis Workup. Medscape Drugs and Diseases. Available online at http://emedicine.medscape.com/article/206697-workup#showall. Accessed on 1/22/17.

(© 1995–2017). JAK2 V617F Mutation Detection, Blood. Mayo Clinic Mayo Medical Laboratories. Available online at http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/88715. Accessed on 1/22/17.

(© 1995–2017). JAK2 Exon 12 and Other Non-V617F Mutation Detection, Blood. Mayo Clinic Mayo Medical Laboratories. Available online at http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/89189. Accessed on 1/22/17.

(2014 September Reviewed). Jak2 gene. Genetics Home Reference. Available online at https://ghr.nlm.nih.gov/gene/JAK2. Accessed on 1/22/17.

Kelley, T. and Salama, M. (2016 October Updated). Myeloproliferative Neoplasms – MPN. ARUP Consult. Available online at https://arupconsult.com/content/myeloproliferative-neoplasms. Accessed on 1/22/17.

Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391-2405. Available online at http://www.bloodjournal.org/content/127/20/2391?sso-checked=true. Accessed February 2017.

Hofmann I. Myeloproliferative neoplasms in children. J Hematopathol. 2015;8:143-157.

Vainchenker W, Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017;129:667-679.

Rumi E, Cazzola M. Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms. Blood. 2017;129:680-692.

DeLario MR, Sheehan AM, Ataya R, et al. Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis—an entity different from adults. Am J Hematol. 2012;87:461-464.

An W, Wan Y, Guo Y, et al. CALR mutation screening in pediatric primary myelofibrosis. Pediatr Blood Cancer. 2014;61:2256-2262.

Sources Used in Previous Reviews

(2007 May). Essential or Primary Thrombocythemia. The Leukemia and Lymphoma Society [On-line information]. PDF available for download at http://www.leukemia-lymphoma.org/attachments/National/br_1178803674.pdf. Accessed July 2009.

(2009 February). What Is Polycythemia Vera? National Heart, Lung, and Blood Institute [On-line information]. Available online at http://www.nhlbi.nih.gov/health/dci/Diseases/poly/poly_whatis.html. Accessed July 2009.

Beals, J. (2009 March 16) JAK2 Haplotypes Influence Susceptibility to Myeloproliferative Neoplasms. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/589655. Accessed July 2009.

McMahon, C. et. al. (2007 May 25). JAK2 V617F Mutation in Patients With Catastrophic Intra-abdominal Thromboses. Medscape from American Journal of Clinical Pathology [On-line information]. Available online at http://www.medscape.com/viewarticle/556664. Accessed July 2009.

Tan, A. et. al. (2007 July 23). A Simple, Rapid, and Sensitive Method for the Detection of the JAK2 V617F Mutation. Medscape from American Journal of Clinical Pathology [On-line information]. Available online at http://www.medscape.com/viewarticle/558906. Accessed July 2009.

Vannucchi, A. et. al. (2009 March 23). Treatment Options for Essential Thrombocythemia and Polycythemia Vera. Medscape from Expert Review of Hematology [On-line information]. Available online at http://www.medscape.com/viewarticle/589735. Accessed July 2009.

(2007 March). JAK2 c.1849G>T (V617F) Mutation Quantification by Real-Time PCR. ARUP Technical Bulletin [On-line information]. PDF available for download through http://www.aruplab.com. Accessed July 2009.

(2007 March). JAK2 (V617F) Mutation by PCR. ARUP Technical Bulletin [On-line information]. PDF available for download through http://www.aruplab.com. Accessed July 2009.

Check, W. (2008 September). Class action for myeloproliferative disorders. CAP Today [On-line information]. Available online through http://www.cap.org. Accessed July 2009.

(13 Feb. 2012). Tefferi, Ayalew. Polycythemia vera and essential thrombocythemia: 2012 update on diagnosis, risk stratification, and management. American Journal of Hematology Continuing Education Series. Available online through http://onlinelibrary.wiley.com. Accessed June 2013.

(April 2013). Classic BCR-ABL1-negative Myeloproliferative Neoplasms. Arup Laboratories. PDF available for dowload at http://www.aruplab.com/guides/ug/tests/iconpdf_383.pdf. Accessed June 2013.

(Dec. 8, 2012). Kiladjian, Jean-Jacques. The spectrum of JAK2-Positive myeloproliferative neoplasms. American Society of Hematology Education Book. Available online at http://asheducationbook.hematologylibrary.org/content/2012/1/561.full. Accessed June 2013.

(Updated May 2013). Myeloproliferative Neoplasms. Arup Consult. Available online at http://www.arupconsult.com/Topics/MyeloproliferativeNeoplasms.html. Accessed June 2013.

(Reviewed Dec. 2011). JAK2. National Library of Medicine. Genetics Home Reference. Available online at http://ghr.nlm.nih.gov/gene/JAK2. Accessed June 2013.

(Reviewed Dec. 2011). Essential thrombocythemia. National Library of Medicine. Genetics Home Reference. Available online at http://ghr.nlm.nih.gov/condition/essential-thrombocythemia. Accessed June 2013.

Vainchenker, William, et al. (June 7, 2011). New mutations and pathogenesis of myeloproliferative neoplasms. Blood. American Society of Hematology. PDF available for download at http://bloodjournal.hematologylibrary.org/content/118/7/1723.full.pdf. Accessed June 2013.

(Updated March 2013). Janus Kinase 2. Online Mendelian Inheritance in Man (OMIM). Available online at http://omim.org/entry/147796. Accessed June 2013.

(2012 Sept.) Essential Thrombocythemia. Mayo Clinic. Available online at http://www.mayoclinic.com/health/thrombocythemia/DS01087/DSECTION=symptoms. Accessed June 2013.

(2011 Dec.) Myelofibrosis. Mayo Clinic. Available online at http://www.mayoclinic.com/health/myelofibrosis/DS00886/DSECTION=symptoms. Accessed June 2013.