A loss-of-function mutation of c-kit results in depletion of mast cells and interstitial cells of Cajal, while its gain-of-function mutation results in their oncogenesis.

Abstract excerpt

Loss-of-function mutations of the c-kit receptor tyrosine kinase (KIT) result in depletion of mast cells and interstitial cells of Cajal (ICCs). In contrast, gain-of-function mutations of KIT induce neoplasms of mast cells and ICCs. In humans, the sites of mutations are different between mast cell neoplasms and those of ICCs. The former were found in the juxtamembrane domain between the transmembrane and tyrosine...

Topics

• Animals
• Gastrointestinal Neoplasms
• Humans
• Mast Cells
• Mast-Cell Sarcoma
• Mutation
• Proto-Oncogene Proteins c-kit
• Stomach
• Stromal Cells