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

Rivera, R.S. and Nagatsuka, H. and Gunduz, M. and Cengiz, B. and Gunduz, E. and Siar, C.H. and Tsujigiwa, H. and Tamamura, R. and Han, K.N. and Nagai, N. (2008) C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma. Virchows Archiv, 452 (1). pp. 27-32. ISSN 0945-6317, DOI https://doi.org/10.1007/s00428-007-0524-2.

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Abstract

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.

Item Type: Article
Funders: UNSPECIFIED
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Uncontrolled Keywords: Oral mucosal melanoma C-kit mutation immunohistochemistry gastrointestinal stromal tumors endothelial growth-factor amplicon melting analysis malignant-melanoma imatinib mesylate metastatic melanoma melanocytic lesions clinical-efficacy cd-117 expression kinase domain
Subjects: R Medicine > RK Dentistry
Divisions: Faculty of Dentistry > Dept of Oral Pathology & Oral Medicine & Periodontology
Depositing User: Ms Nursyafiqah Abd Malek
Date Deposited: 09 Jan 2013 01:19
Last Modified: 09 Jan 2013 01:19
URI: http://eprints.um.edu.my/id/eprint/4310

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