Friday 12 December 2003
The proto-oncogene c-kit is a receptor tyrosine kinase recognized to initiate essential signal transduction pathways that transmit biological signals for cellular proliferation, differentiation, and metastasis. Aberrant expression or mutation of c-kit has been shown to be involved in the pathogenesis of many cancers.
- germ-line gain-of-function mutations of c-kit receptor tyrosine kinase (KIT) gene in familial gastrointestinal stromal tumors (GIST)
- somatic gain-of-function mutations of c-kit receptor tyrosine kinase (KIT) gene in sporadic gastrointestinal stromal tumors (GIST)
overexpression in tumors
- colorectal neuroendocrine carcinomas: c-kit overexpression observed in a subset of colorectal neuroendocrine carcinomas (not be mediated by activating mutations) (14657715)
- renal oncocytoma (71%) (15105658)
- renal chromophobe renal cell carcinoma (88%) (15105658)
- medulloblastoma (15547773)
Diagnostic use of CD117
Mutations - Variants
- A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).