E M Elli, M Mauri, D D'Aliberti, I Crespiatico, D Fontana, S Redaelli, S Pelucchi, S Spinelli, B Manghisi, F Cavalca, A Aroldi, A Ripamonti, S Ferrari, S Palamini, F Mottadelli, L Massimino, D Ramazzotti, G Cazzaniga, A Piperno, C Gambacorti-Passerini, R Piazza
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 exome-sequencing coupled with a high-depth targeted OncoPanel to identify a possible underling germline or somatic cause...
January 20, 2024: Clinical and Experimental Medicine