Polycythemia other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
Overview
Other Diagnostic Studies
The JAK2 1849G>T (617V>F) mutation has been detected in at least 90% of patients with polycythemia vera (PV). This mutation is strongly contributed with myeloproliferative disorders (MPDs). However, the presence of the mutation in 3 different MPDs raises the question of whether other molecular events or genetic modifiers influence the phenotype. Accumulating evidence suggests that the JAK2 mutation directly causes erythrocytosis in patients with PV.[1]
References
- ↑ Dupont S, Massé A, James C, Teyssandier I, Lécluse Y, Larbret F; et al. (2007). "The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera". Blood. 110 (3): 1013–21. doi:10.1182/blood-2006-10-054940. PMID 17389763.