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
positive diagnosis of renal oncocytoma (71%) (#15105658#)
positive diagnosis of renal chromophobe renal cell carcinoma (88%) (#15105658#)
Mutations - Variants
- A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).
Druker BJ. STI571 (Gleevec) as a paradigm for cancer therapy. Trends Mol Med. 2002;8(4 Suppl):S14-8. PMID: #11927282#