Comprehensive genetic analyses for malignant skin tumors by whole exsome sequencing

• Project/Area Number: 15K09752
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Kindai University
• Principal Investigator: OISO Naoki 近畿大学, 医学部, 准教授 (10419814)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 皮膚悪性腫瘍 / 悪性黒色腫 / 網羅的遺伝子解析 / ドライバー遺伝子 / 有棘細胞がん / 網羅的遺伝子変異解析 / 全エクソンシークエンス

Outline of Final Research Achievements

New molecularly targeted therapies are necessary for individuals with malignant skin tumors, i.e. melanoma and squamous cell carcinoma. Comprehensive genetic analyses for malignant skin tumors are currently required in Japan. We identified a recurrent somatic mutation in SF3B1 in one of two Japanese patients with mucosal melanoma. Previous data and our own data reveal recurrent somatic SF3B1 mutations in 15 of 42 (35.7%) mucosal melanoma patients. We identified a recurrent somatic mutation in KIT and a novel somatic mutation in LZTR1 in a Japanese patient with lymph node metastatic melanoma from ungula melanoma. These may contribute novel strategies of molecularly targeted therapies to improve prognosis in persons with malignant skin tumors.

Research Products

• [Journal Article] Lymph node metastatic melanoma from ungual melanoma: Identification of somatic mutations in KIT and LZTR1 (2018)
  • Author(s): Oiso N, Sakai K, Narita T, Yanagihara S, Nishio K, Kawada A
  • Journal Title: The Journal of Dermatology Volume: 45
  • Peer Reviewed
• [Presentation] Whole-exsome sequencing in relatively slow-growing metastatic melanoma from ungual melanoma (2017)
  • Author(s): Oiso N, Sakai K, Narita T, Yanagihara S, Nishio K, Kawada A
  • Organizer: XXIII Triennial International Pigment Cell Conference 2017
  • Int'l Joint Research
• [Presentation] Aomatic SF3B1 mutation in mucosal melanoma from a Japanese female (2017)
  • Author(s): Oiso N, Sakai K, Narita T, Yanagihara S, Nishio K, Kawada A
  • Organizer: The 42nd Annual Meeting of the Japanese Society for Investigative Dermatology