title: Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy--case report and review of the literature.
abstract: Previously an increased frequency of KIT aberrations in mucosal melanomas was reported, whereas c-KIT in most types of cutaneous melanomas does not appear to be of pathogenetic importance. Imatinib has become the standard of care in other cancers with KIT mutations such as gastrointestinal stromal tumors. Recently 12 cases of metastatic melanoma and KIT-activating mutations have been published to be successfully treated with c-KIT blockers such as imatinib, sunitinib, dasatinib or sorafenib. We report here on one of our patients with KIT-activating mutation in metastatic anal mucosal melanoma, who showed a response to imatinib therapy and summarize the available literature regarding this new therapeutic option.
authors.affiliation: Skin Cancer Center Hannover, Department of Dermatology and Allergy, Hannover Medical School, Hannover, Germany. satzger.imke @ mh-hannover.de
authors.forename: Imke
authors.initials: I
authors.lastname: Satzger
authors.forename: Uta
authors.initials: U
authors.lastname: Küttler
authors.forename: Bernward
authors.initials: B
authors.lastname: Völker
authors.forename: Florian
authors.initials: F
authors.lastname: Schenck
authors.forename: Alexander
authors.initials: A
authors.lastname: Kapp
authors.forename: Ralf
authors.initials: R
authors.lastname: Gutzmer
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001005:Anus Neoplasms / Q000188:drug therapy* / Q000556:secondary; D001549:Benzamides; D005260:Female; D006801:Humans; D000068877:Imatinib Mesylate; D008545:Melanoma / Q000188:drug therapy* / Q000235:genetics / Q000556:secondary; D009092:Mucous Membrane / Q000187:drug effects / Q000473:pathology; D009154:Mutation; D010879:Piperazines / Q000627:therapeutic use*; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D019009:Proto-Oncogene Proteins c-kit / Q000037:antagonists & inhibitors / Q000235:genetics; D011743:Pyrimidines / Q000627:therapeutic use*; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit