Exome sequencing of sebaceous carcinoma of the eyelid

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K16942
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: Kyushu 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
• Keywords: 眼瞼脂腺癌 / がんゲノム / エクソームシークエンス

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.

Free Research Field

眼科学

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。