Authors' recommendations: Myeloproliferative neoplasms (MPNs) are characterized by overproduction of blood cells, and include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), which have overlapping as well as distinct characteristics. MPNs are rare conditions with a prevalence of 0.79, 0.25, and 0.53 per 100,000 individuals for PV, PMF, and ET, respectively. Of these, PMF is the most severe, with an average survival of 5 years from diagnosis. In 2005, 4 MPN studies observed a high frequency of a variant in the Janus Kinase 2 (JAK2) gene. This variant, p.Val617Phe, results in the substitution of a valine with a phenylalanine residue in the JAK2 protein and is present in 80% to 95% of PV patients, and 40% to 60% of individuals with ET or PMF. The use of this variant as 1 of several criteria for potential diagnosis of PV, ET, or PMF has been incorporated into the World Health Organization (WHO) 2008 guidelines. Therefore, testing for this variant might provide a diagnostic tool to identify patients either with an MPN or at increased susceptibility to developing MPNs. In addition, this variant might serve as a target for drug therapy. Variants in several other genes are also associated with MPNs, but this report focuses on studies analyzing the most common JAK2 p.Val617Phe variant.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15105

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218

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Contact Email: saleinfo@hayesinc.com

Copyright: 2013 Winifred S. Hayes, Inc