Expression and mutation of c-kit gene in gastrointestinal stromal tumors

World J Gastroenterol. 2003 Nov;9(11):2548-51. doi: 10.3748/wjg.v9.i11.2548.


Aim: To investigate the expression and mutation of c-kit gene and its correlation with the clinical pathology and prognosis of gastrointestinal stromal tumors (GISTs).

Methods: A total of 94 cases of GISTs, 10 leiomyomas and 2 schwannomas were studied for the expression of KIT by immunohistochemistry. The c-kit gene mutations in exon 11 of these specimens were detected by PCR-SSCP technique.

Results: Of the 94 cases of GISTs, 91 (96.8%) expressed the KIT protein. Leiomyomas and schwannomas were negative for KIT. The c-kit gene mutations of exon 11 were found in 38 out of the 94 cases of GISTs (40.4%). The mutations involved point mutations (Val560-Asp, Ile563-Met), del 557-559 and 579ins12. No mutations were detectable in benign GISTs, leiomyomas or schwannomas. The patients with mutation-positive GISTs showed more frequent recurrences, invasion and metastasis in adjacent tissues than those with mutation-negative ones.

Conclusion: KIT is a useful marker for diagnosis of GISTs. Mutation of the c-kit gene may play a significant role in the pathogenesis of GISTs and may be associated with poor prognosis in patients with GISTs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor / genetics
  • Child
  • Child, Preschool
  • Exons
  • Female
  • Gastrointestinal Neoplasms / pathology
  • Gastrointestinal Neoplasms / physiopathology*
  • Humans
  • Immunohistochemistry
  • Leiomyoma / pathology
  • Leiomyoma / physiopathology*
  • Male
  • Middle Aged
  • Neurilemmoma / pathology
  • Neurilemmoma / physiopathology*
  • Point Mutation*
  • Prognosis
  • Proto-Oncogene Proteins c-kit / genetics*


  • Biomarkers, Tumor
  • Proto-Oncogene Proteins c-kit