Incidence and significance of the JAK2 V617F mutation in patients with chronic myeloproliferative disorders

• Published in: Irish journal of medical science 2007-06, Vol.176 (2), p.105-109
• Main Authors: Langabeer, S E, Ni Ainle, F, Conneally, E, Lawler, M
• Format: Article
• Language: English
• Subjects: Chronic Disease; Humans; Janus Kinase 2 - genetics; Mutation; Myeloproliferative Disorders - genetics; Polycythemia Vera - genetics; Polymerase Chain Reaction; Primary Myelofibrosis - genetics; Thrombocythemia, Essential - genetics
• ISSN: 0021-1265; 1863-4362
• DOI: 10.1007/s11845-007-0026-x

The chronic myeloproliferative disorders (MPD) are clonal haemopoietic stem cell disorders. The incidence of JAK2 V617F mutation was sought in a population of patients with MPD. The JAK2 V617 mutation status was determined in 79 patients with known MPD and 59 patients with features suggestive of MPD. The mutation was found in patients with polycythaemia vera, essential thrombocythaemia, idiopathic myelofibrosis and in patients with other chronic myeloproliferative disorders. Eight JAK2 V617F positive cases were identified amongst those patients with features suggestive of MPD. The incidence of the JAK2 V617F mutation in MPD patients is similar to that reported by other groups. The assay confirmed and refined the diagnosis of several patients with features indicative of MPD. We suggest screening for this mutation in all patients with known and suspected MPD as identification is valuable in classification and is a potential target for signal transduction therapy.