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

Rosario S Rivera1, Hitoshi Nagatsuka, Mehmet Gunduz

  • 1Department of Oral Pathology and Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.

Virchows Archiv : an International Journal of Pathology
|December 11, 2007
PubMed

Insights

The proto-oncogene KIT, encoding c-kit receptor tyrosine kinase, plays a role in oral mucosal melanoma (OMM) development. Activating mutations and increased c-kit expression in atypical melanocytes suggest its involvement in OMM tumorigenesis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • C-kit is a receptor tyrosine kinase (RTK) encoded by the proto-oncogene KIT.
  • Gain-of-function mutations in c-kit are implicated in various cancers.
  • C-kit is crucial for melanocyte development.

Purpose of the Study:

  • To investigate the role of c-kit in oral mucosal melanoma (OMM) tumorigenesis.
  • To analyze c-kit protein expression and mutation status in OMM.
  • To determine if c-kit is involved in early OMM development.

Main Methods:

  • Immunohistochemistry was used to detect c-kit protein expression.
  • Mutation analysis was performed on 18 human primary OMM cases.
  • C-kit expression was evaluated in atypical melanocytes and invasive components.

Main Results:

  • 16 out of 18 OMM cases showed positive c-kit protein expression.
  • Atypical melanocytes and in situ components expressed c-kit.
  • Four cases had missense mutations, with two correlating to increased c-kit expression.

Conclusions:

  • C-kit expression in atypical melanocytes indicates its role in early OMM tumorigenesis.
  • C-kit protein expression correlates with activating mutations in OMM.
  • The proto-oncogene KIT is pertinent to OMM tumorigenesis.

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