Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.

By A. Jones, S. Kreil, K. Zoi, K. Waghorn, Claire Curtis, Lingyan Zhang, J. Score, R. Seear, A. Chase, F. Grand and 15 more. Blood, 2005

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MPLW515L Is a Novel Somatic Activating Mutation in Myelofibrosis with Myeloid Metaplasia (2006, background): “Although clonal hematopoiesis was observed in these disorders more than three decades ago, the molecular etiology of these disorders was not known until recently when several groups reported a somatic mutation in the JAK2 tyrosine kinase (JAK2V617F) in most patients with PV and in a subset of patien”
Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders (2007, background): “Although most patients with PV are JAK2V617F positive when assessed using appropriately sensitive allele-specific assays, a small proportion of patients with PV are negative for the JAK2V617F allel”