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KIT

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.

Pathology

- germline mutations

  • germ-line gain-of-function mutations of c-kit receptor tyrosine kinase (KIT) gene in familial gastrointestinal stromal tumors (GIST)

- somatic mutations

  • 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

- KIT-p.D419del

  • A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).

References

- Druker BJ. STI571 (Gleevec) as a paradigm for cancer therapy. Trends Mol Med. 2002;8(4 Suppl):S14-8. PMID: #11927282#