Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease

Animesh Pardanani; Terra L Reeder; Teresa K Kimlinger; Jin Y Baek; Chin-Y Li; Joseph H Butterfield; Ayalew Tefferi

doi:10.1016/s0145-2126(02)00303-x

Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease

Leuk Res. 2003 Aug;27(8):739-42. doi: 10.1016/s0145-2126(02)00303-x.

Authors

Animesh Pardanani¹, Terra L Reeder, Teresa K Kimlinger, Jin Y Baek, Chin-Y Li, Joseph H Butterfield, Ayalew Tefferi

Affiliation

¹ Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

PMID: 12801532
DOI: 10.1016/s0145-2126(02)00303-x

Abstract

We screened 115 patients with chronic myeloid disorders (CMD) for known flt-3 and c-kit mutations in both the juxtamembrane (JM) and the activation loop (AL) domains. None of the patients displayed flt-3 (JM or AL) or c-kit JM mutations. However, the c-kit AL (D816V) mutation was detected in 5 of 16 patients with systemic mast cell disease (SMCD) but in none of the remaining 99 patients with other CMD. In SMCD, the presence of D816V mutation was significantly associated with advanced age, an aggressive clinical course, increased bone marrow mast cell content, and chronic myelomonocytic leukemia.

MeSH terms

Adult
Aged
Chronic Disease
Cohort Studies
DNA, Neoplasm / genetics
Female
Gene Frequency
Genetic Testing
Humans
Male
Mastocytosis / genetics
Middle Aged
Mutation*
Myeloproliferative Disorders / epidemiology
Myeloproliferative Disorders / genetics*
Myeloproliferative Disorders / pathology
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins c-kit / genetics*
Receptor Protein-Tyrosine Kinases / genetics*
fms-Like Tyrosine Kinase 3

Substances

DNA, Neoplasm
Proto-Oncogene Proteins
FLT3 protein, human
Proto-Oncogene Proteins c-kit
Receptor Protein-Tyrosine Kinases
fms-Like Tyrosine Kinase 3