Leuk Lymphoma  1997 Apr;25(3-4):281-7 

c-kit Point mutation in patients with myeloproliferative disorders.

Kimura A, Nakata Y, Katoh O, Hyodo H.

Department of Hematology and Oncology, Hiroshima University, Japan.

Myeloproliferative disorders (MPD) constitute a group of hematopoietic neoplasms
at the myeloid stem cell level. Myeloid stem cells and/or progenitor cells from
MPD have been considered sensitive to hematopoietic growth factors, including
erythropoietin, thrombopoietin and stem cell factor (SCF). SCF is a ligand for
c-kit receptor with tyrosine kinase. We analysed the gene alteration of the
c-kit extracellular domain in MPD patients by PCR-SSCP and subsequent nucleotide
sequencing. The point mutation in the N-terminal part of the domain, codon 52
(Asp-->Asn), was found in two patients with primary myelofibrosis and one with
chronic myelogenous leukemia. We review the literature regarding the role of
SCF/c-kit system in the oncogenesis of leukemia and MPD, and then discuss the
significance of our finding in the context of growth advantage of the mutated
clones over the normal clones.

Publication Types:
Review
Review, Tutorial

PMID: 9168438 [PubMed - indexed for MEDLINE]