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Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
c-kit gene mutation and CD117 expression in human anorectal melanomas
Shujuan Ni1, Dan Huang, Xiaochen Chen
1Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China.
Human Pathology
|December 14, 2011
Summary
Activating mutations in c-kit were found in a subset of anorectal melanomas, suggesting potential targeted therapy. These c-kit mutations did not correlate with CD117 expression in tumor cells.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Melanoma pathogenesis involves c-kit and BRAF mutations.
- Mutation frequencies vary across melanoma subtypes.
- Anorectal melanoma research on these mutations is limited.
Purpose of the Study:
- To investigate c-kit and BRAF mutation status in anorectal melanomas.
- To analyze the correlation between c-kit mutations and CD117 expression.
Main Methods:
- DNA sequencing of 40 anorectal melanoma cases.
- Analysis of c-kit mutations in specific exons (9, 11, 13, 17).
- Immunohistochemistry for CD117 expression.
Main Results:
- c-kit mutations identified in 7 out of 40 cases.
- BRAF mutations found in 2 cases.
- CD117 expression detected in 16 cases; 3 also had c-kit mutations.
- No correlation between c-kit mutations and CD117 expression.
Conclusions:
- A subset of anorectal melanomas harbor activating c-kit mutations.
- Kinase inhibitors like imatinib may treat these specific melanoma cases.
- c-kit mutation status is independent of CD117 expression.
