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

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 al...

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Main Authors: Rivera, R.S., Nagatsuka, H., Gunduz, M., Cengiz, B., Gunduz, E., Siar, C.H., Tsujigiwa, H., Tamamura, R., Han, K.N., Nagai, N.
Format: Article
Language:English
Published: 2008
Subjects:
Online Access:http://eprints.um.edu.my/4310/1/C-kit_protein_expression_correlated_with_activating_mutations_in_KIT_gene_in_oral_mucosal_melanoma.pdf
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author Rivera, R.S.
Nagatsuka, H.
Gunduz, M.
Cengiz, B.
Gunduz, E.
Siar, C.H.
Tsujigiwa, H.
Tamamura, R.
Han, K.N.
Nagai, N.
author_facet Rivera, R.S.
Nagatsuka, H.
Gunduz, M.
Cengiz, B.
Gunduz, E.
Siar, C.H.
Tsujigiwa, H.
Tamamura, R.
Han, K.N.
Nagai, N.
author_sort Rivera, R.S.
collection UM
description 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.
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spelling um.eprints-43102013-01-09T01:19:31Z http://eprints.um.edu.my/4310/ C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma Rivera, R.S. Nagatsuka, H. Gunduz, M. Cengiz, B. Gunduz, E. Siar, C.H. Tsujigiwa, H. Tamamura, R. Han, K.N. Nagai, N. RK Dentistry 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. 2008 Article PeerReviewed application/pdf en http://eprints.um.edu.my/4310/1/C-kit_protein_expression_correlated_with_activating_mutations_in_KIT_gene_in_oral_mucosal_melanoma.pdf 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 <https://doi.org/10.1007/s00428-007-0524-2>. 10.1007/s00428-007-0524-2
spellingShingle RK Dentistry
Rivera, R.S.
Nagatsuka, H.
Gunduz, M.
Cengiz, B.
Gunduz, E.
Siar, C.H.
Tsujigiwa, H.
Tamamura, R.
Han, K.N.
Nagai, N.
C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma
title C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma
title_full C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma
title_fullStr C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma
title_full_unstemmed C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma
title_short C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma
title_sort c kit protein expression correlated with activating mutations in kit gene in oral mucosal melanoma
topic RK Dentistry
url http://eprints.um.edu.my/4310/1/C-kit_protein_expression_correlated_with_activating_mutations_in_KIT_gene_in_oral_mucosal_melanoma.pdf
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