Scientific publications

Identification of c-Kit gene mutations in patients with polycythemia vera

Fontalba A, Real PJ, Fernandez-Luna JL, Agirre X, Prosper F, Richard C.

Magazine: Leukemia Research

Date: Oct 1, 2006

Cell Therapy Area [SP]

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.

CITATION  Leuk Res. 2006 Oct;30(10):1325-6

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