Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor.

Summary of "Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor."

Recent advances in our understanding of the genetic mutations associated with melanoma have led to the classification of distinct melanoma subtypes. A number of reports have consistently demonstrated that mucosal and acral melanomas more commonly harbor KIT-activating mutations than do other subtypes. Success in treating gastrointestinal stromal tumors with imatinib has led to speculation that KIT-mutated melanoma might also be effectively managed using this approach. A 78-year-old woman presented with a 4-month history of rectal bleeding. A colonoscopy revealed a black polypoid mass, 30 mm in diameter, originating near the dentate line, and a biopsy revealed malignant melanoma. Computed tomography showed multiple liver and lung metastases. A KIT mutation analysis showed the L576P mutation in exon 11. The patient did not want to undergo chemotherapy including a tyrosine-kinase inhibitor, so palliative radiotherapy for rectal symptoms was performed, but the patient died 4 months later due to disease progression. We describe the first case of anorectal melanoma with a KIT-activating mutation in Japan and summarize findings from the literature regarding the efficacy of KIT kinase inhibitors on this melanoma subtype.


Department of Gastroenterology, Kushiro City General Hospital, 1-12, Shunkodai, Kushiro, 085-0822, Japan.

Journal Details

This article was published in the following journal.

Name: International journal of clinical oncology / Japan Society of Clinical Oncology
ISSN: 2547-7772


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