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

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Abstract

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.

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Conflict of interest

None of the authors has a conflict of interest in relation to the publication of this manuscript.

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Authors and Affiliations

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

    Miki Itoh, Akira Goto, Hideki Wakasugi, Yasutaka Matsunaga, Kenichi Fujii, Kazuya Suzuki, Kazuhiko Yonezawa & Takashi Abe

  2. Department of Clinical Pathology, Kushiro City General Hospital, 1-12, Shunkodai, Kushiro, 085-0822, Japan

    Yutaka Yoshida

  3. First Department of Internal Medicine, Sapporo Medical University, S-1, W-16, Chuo-ku, Sapporo, 060-8543, Japan

    Yoshiaki Arimura & Yasuhisa Shinomura

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  1. Miki Itoh
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Correspondence to Akira Goto.

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Itoh, M., Goto, A., Wakasugi, H. et al. Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor. Int J Clin Oncol 16, 428–434 (2011). https://doi.org/10.1007/s10147-010-0139-5

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  • DOI: https://doi.org/10.1007/s10147-010-0139-5

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