Identification of c-Kit gene mutations in patients with polycythemia vera.
Imatinib mesylate has recently been reported to have clinical activity in the treatment of polycythemia vera (PV), suggesting the involvement of one of the kinases targeted by this inhibitor, including c-Kit and PDGFR. Activating c-Kit mutations have been identified in patients with mastocytosis and other myeloid disorders such as acute myeloid leukemia. Thus, we wanted to analyze the presence of mutations of c-Kit in polycythemia vera patients. We found that 7 out of 20 patients carried missense mutations in the c-Kit gene whereas no sequence variation was detected in 15 healthy controls.
Fontalba
Ana
A
Real
Pedro J
PJ
Fernandez-Luna
Jose L
JL
Agirre
Xabier
X
Prosper
Felipe
F
Richard
Carlos
C
D019943:Amino Acid Substitution; D014644:Genetic Variation; D006801:Humans; D020125:Mutation, Missense; D011087:Polycythemia Vera / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017479:Receptors, Platelet-Derived Growth Factor / Q000235:genetics; D012016:Reference Values
D019009:Proto-Oncogene Proteins c-kit; D017479:Receptors, Platelet-Derived Growth Factor