C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma

Rosario S. Rivera, Hitoshi Nagatsuka, Mehmet Gunduz, Beyhan Cengiz, Esra Gunduz, Chong Huat Siar, Hidetsugu Tsujigiwa, Ryo Tamamura, Kok Ng Han, Noriyuki Nagai

Research output: Contribution to journalArticlepeer-review

144 Citations (Scopus)


C-kit is a trans-membrane receptor tyrosine kinase (RTK) encoded by the proto-oncogene KIT located at 4q11-12. Gain-of-function mutations arising to c-kit activation independent of its ligand were observed in various tumors related to germ cells, mast cells, and interstitial cells of Cajal. C-kit also participates in melanocyte development; hence, its involvement in oral mucosal melanoma (OMM) tumorigenesis was investigated. Immunohistochemistry and mutation analysis were performed using 18 cases of human primary OMM. Results revealed 16 cases positive to c-kit protein. Atypical melanocytes expressed c-kit. All in situ components expressed c-kit, but only four cases exhibited intense expression in the invasive component. Missense mutations were observed in four cases, and two of those correlated with increased protein expression. C-kit expression in atypical melanocytes suggests the role of c-kit in the early stage of OMM tumorigenesis. C-kit protein expression correlated with activating mutations indicating the pertinent role of the proto-oncogene KIT in the tumorigenesis of OMM.

Original languageEnglish
Pages (from-to)27-32
Number of pages6
JournalVirchows Archiv
Issue number1
Publication statusPublished - Jan 2008


  • C-kit mutation
  • Immunohistochemistry
  • Oral mucosal melanoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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