title: KIT mutations in Russian patients with mucosal melanoma.
abstract: A single institution series of 48 mucosal melanomas (MMs) has been analyzed for the presence of KIT mutations using high-resolution melting and sequencing of abnormally melted DNA fragments. The analysis of exons 9, 11, 13, and 17 has revealed eight of 48 (17%) nonsynonymous alterations, including zero of seven head and neck, six of 24 anorectal, one of 15 genitourinary, one of one gastric, and zero of one mediastinal MMs. Seven of these mutations were potentially associated with the tumor sensitivity to KIT tyrosine kinase inhibitors. One tumor harbored somatically acquired silent nucleotide substitution c.1383A>G (T461T). This study adds to the evidence that a substantial portion of MMs carry a therapeutically relevant mutation in the KIT oncogene.
authors.affiliation: Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St Petersburg Pediatric Medical Academy, St Petersburg, Russia.
authors.forename: Svetlana N
authors.initials: SN
authors.lastname: Abysheva
authors.forename: Aglaya G
authors.initials: AG
authors.lastname: Iyevleva
authors.forename: Nina V
authors.initials: NV
authors.lastname: Efimova
authors.forename: Yulia B
authors.initials: YB
authors.lastname: Mokhina
authors.forename: Feruza A
authors.initials: FA
authors.lastname: Sabirova
authors.forename: Alexandr O
authors.initials: AO
authors.lastname: Ivantsov
authors.forename: Anna S
authors.initials: AS
authors.lastname: Artemieva
authors.forename: Alexandr V
authors.initials: AV
authors.lastname: Togo
authors.forename: Vladimir M
authors.initials: VM
authors.lastname: Moiseyenko
authors.forename: Dmitry E
authors.initials: DE
authors.lastname: Matsko
authors.forename: Evgeny N
authors.initials: EN
authors.lastname: Imyanitov
mesh_terms: D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005787:Gene Frequency; D006258:Head and Neck Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009092:Mucous Membrane / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000502:physiology; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012426:Russia / Q000453:epidemiology; D013274:Stomach Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D014565:Urogenital Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
chemical_list: D019009:Proto-Oncogene Proteins c-kit