title: c-kit gene mutation and CD117 expression in human anorectal melanomas.
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.
authors.affiliation: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China.
authors.forename: Shujuan
authors.initials: S
authors.lastname: Ni
authors.forename: Dan
authors.initials: D
authors.lastname: Huang
authors.forename: Xiaochen
authors.initials: X
authors.lastname: Chen
authors.forename: Jiaying
authors.initials: J
authors.lastname: Huang
authors.forename: Yunyi
authors.initials: Y
authors.lastname: Kong
authors.forename: Ye
authors.initials: Y
authors.lastname: Xu
authors.forename: Xiang
authors.initials: X
authors.lastname: Du
authors.forename: Weiqi
authors.initials: W
authors.lastname: Sheng
mesh_terms: D000328:Adult; D000368:Aged; D001005:Anus Neoplasms / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000096:biosynthesis* / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012004:Rectal Neoplasms / Q000235:genetics* / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D019009:Proto-Oncogene Proteins c-kit