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Exome sequencing of sebaceous carcinoma of the eyelid

Research Project

Project/Area Number 18K16942
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 56060:Ophthalmology-related
Research InstitutionKyushu University

Principal Investigator

Masato Akiyama  九州大学, 医学研究院, 講師 (10757686)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2020: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords眼瞼脂腺癌 / がんゲノム / エクソームシークエンス / 脂腺癌 / エクソーム / 体細胞変異 / 悪性腫瘍
Outline of Final Research Achievements

A total of 49 Japanese patients with sebaceous carcinomas of the eyelid participated in the study. DNA was extracted for exome sequencing from both tumor tissues and blood samples obtained from 38 patients. As a result of the exome sequence analysis, we found that three previously reported genes were frequently mutated in our Japanese samples. We identified a novel gene that was mutated in approximately 20% of tumors. These results confirm that sebaceous carcinomas of the eyelid in the Japanese population have somatic mutations which have been previously reported in the studies of non-Japanese patients, and that major sebaceous carcinoma-related genes are shared across populations.

Academic Significance and Societal Importance of the Research Achievements

眼科領域の悪性腫瘍は非常に稀少であり、がんゲノム解析はほとんどの悪性腫瘍で進んでいないのが現状である。本研究は、眼科領域で比較的頻度が高く致死性の悪性腫瘍である眼瞼脂腺癌患者38例を対象に網羅的ながんゲノム解析を行ったものであり、今後の眼瞼悪性腫瘍におけるがんゲノム診療の推進に貢献することが期待される。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (4 results)

All 2021 2020 2019

All Presentation (4 results) (of which Invited: 2 results)

  • [Presentation] 脂腺癌のビッグデータ解析2021

    • Author(s)
      秋山 雅人
    • Organizer
      第32回日本眼瞼義眼床手術学会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] 大規模化するヒトゲノム解析2020

    • Author(s)
      秋山 雅人
    • Organizer
      学術情報メディアセンターセミナー
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] 眼瞼脂腺癌8例のエクソーム解析2019

    • Author(s)
      左野裕介, 秋山雅人, 藤井裕也, 関瑛子, 山名佳奈子, 吉川洋, 田邉美香, 園田康平
    • Organizer
      第37回 日本眼腫瘍学会
    • Related Report
      2019 Research-status Report
  • [Presentation] 眼瞼脂腺癌3例のエクソーム解析2019

    • Author(s)
      左野裕介, 秋山雅人, 藤井裕也, 関瑛子, 高木健一, 山名佳奈子, 塩瀬聡美, 吉川洋, 田邉美香, 園田康平
    • Organizer
      九州大学眼科研究会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2022-01-27  

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