Article
Idiopathic erythrocytosis: a germline disease?
Clinical and experimental medicine - 20 Jan 2024
Elli E M, Mauri M, D'Aliberti D, Crespiatico I, Fontana D, Redaelli S, Pelucchi S, Spinelli S, Manghisi B, Cavalca F, Aroldi A, Ripamonti A, Ferrari S, Palamini S, Mottadelli F, Massimino L, Ramazzotti D, Cazzaniga G, Piperno A, Gambacorti-Passerini C, Piazza R
Abstract excerpt
Polycythemia Vera (PV) is typically caused by V617F or exon 12 JAK2 mutations. Little is known about Polycythemia cases where no JAK2 variants can be detected, and no other causes identified. This condition is defined as idiopathic erythrocytosis (IE). We evaluated clinical-laboratory parameters of a cohort of 56 IE patients and we determined their molecular profile at diagnosis with paired blood/buccal-DNA...
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