title: Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera.
abstract: Idiopathic erythrocytosis (IE) is a primary erythrocytosis not fulfilling the criteria for polycythemia vera (PV) diagnosis. In order to verify the relationship between IE and PV, we screened JAK2V617F mutation in a consecutive series of 11 IE and, for comparison, in 15 PV. JAK2V617F mutation was screened by both cDNA sequencing and mutation specific PCR in both peripheral blood and bone marrow samples. All 11 IE tested negative for JAK2V617F mutation, which, conversely, occurred in 11/15 (73.3%) PV. Our results demonstrate that JAK2V617F is absent in IE and may represent a useful molecular marker for distinguishing IE from PV.
authors.affiliation: Division of Haematology, Department of Clinical and Experimental Medicine & IRCAD, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy. rossidav@med.unipmn.it
authors.forename: Davide
authors.initials: D
authors.lastname: Rossi
authors.forename: Francesca
authors.initials: F
authors.lastname: Cortini
authors.forename: Clara
authors.initials: C
authors.lastname: Deambrogi
authors.forename: Caterina
authors.initials: C
authors.lastname: Barbieri
authors.forename: Michaela
authors.initials: M
authors.lastname: Cerri
authors.forename: Silvia
authors.initials: S
authors.lastname: Franceschetti
authors.forename: Annarita
authors.initials: A
authors.lastname: Conconi
authors.forename: Daniela
authors.initials: D
authors.lastname: Capello
authors.forename: Gianluca
authors.initials: G
authors.lastname: Gaidano
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001241:Aspirin / Q000627:therapeutic use; D001853:Bone Marrow / Q000201:enzymology; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011086:Polycythemia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011087:Polycythemia Vera / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D012313:RNA / Q000235:genetics / Q000302:isolation & purification; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers; D012313:RNA; D004247:DNA; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D001241:Aspirin; D006918:Hydroxyurea