c-kit gene mutation and CD117 expression in human anorectal melanomas
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Updated: May 26, 2026
Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
Shujuan Ni1, Dan Huang, Xiaochen Chen
1Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China.
Abstract:
c-kit and BRAF mutations play an important role during the pathogenesis of melanoma. The subtypes of melanomas arising from different parts of the body have variable c-kit or BRAF mutation frequencies. Few studies in the literature have examined c-kit and BRAF mutation status in melanomas that occur in the anus and rectum. In this study, we analyzed 40 cases of anorectal melanoma for c-kit and BRAF mutations by DNA sequencing using paraffin-embedded tissues. c-kit Mutations were detected in exons 9, 11, 13, and 17. CD117 expression in tumor cells was analyzed by immunohistochemistry. Our study showed that a c-kit mutation was found in 7 of the 40 cases of anorectal melanoma. CD117 expression was detected in 16 of the 40 cases, and 3 of these 16 cases also had c-kit mutations. Mutations in BRAF were also identified in 2 patients. These results indicate that a subset of anorectal melanomas have activating c-kit mutations, which suggests that kinase inhibitors such as imatinib may be used to treat this subset of melanoma patients. In addition, our results show that c-kit mutations do not correlate with CD117 expression.
Insights
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.
