Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera.
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.
Rossi
Davide
D
Division of Haematology, Department of Clinical and Experimental Medicine & IRCAD, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy. rossidav@med.unipmn.it
Cortini
Francesca
F
Deambrogi
Clara
C
Barbieri
Caterina
C
Cerri
Michaela
M
Franceschetti
Silvia
S
Conconi
Annarita
A
Capello
Daniela
D
Gaidano
Gianluca
G
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
D005819:Genetic Markers; D012313:RNA; D004247:DNA; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D001241:Aspirin; D006918:Hydroxyurea