Authors' recommendations: Philadelphia chromosome-negative 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 2008, the World Health Organization (WHO) recommended criteria for diagnosing MPNs that included detection of a variant in the janus kinase 2 (JAK2) gene present in 40% to 60% of individuals with ET or PMF. In the absence of the JAK2 variant, myeloproliferative leukemia virus oncogene (MPL) variants in ET and PMF patients may be tested. The MPL gene is located on chromosome 1 at band p34. MPL variants are present in approximately 3% and 10% of ET and PMF patients, respectively, but have not been detected in patients with PV. Therefore, testing for this variant might provide a diagnostic tool to identify JAK2-negative patients who may develop ET or PMF. In addition, variants in this gene might serve as targets for drug therapy.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15671

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

Contact Name: saleinfo@hayesinc.com

Contact Email: saleinfo@hayesinc.com

Copyright: 2013 Winifred S. Hayes, Inc