Comprehensive genomic analysis for malignant eye tumors and development for clinical application

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K11304
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Tokyo Medical University
• Principal Investigator: Goto Hiroshi 東京医科大学, 医学部, 主任教授 (10201500)
• Co-Investigator(Kenkyū-buntansha): 臼井 嘉彦 東京医科大学, 医学部, 講師 (50408142)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 眼悪性腫瘍

Outline of Final Research Achievements

Malignant melanomas occurring in the conjunctiva and uveal tissues as well as intraocular and ocular adnexal malignant lymphomas are life threatening diseases. In the applicant’s institution, there are many opportunities to diagnose and treat ocular malignant tumors. Utilizing this advantage, we performed comprehensive genome analysis of ocular malignant tumors. Using next generation sequencing, we succeeded to identify novel gene abnormalities in orbital malignant lymphomas, IgG4-related ophthalmic disease, uveal melanomas, and intraocular lymphomas. These findings provide the basis for detailed elucidation of carcinogenic mechanism, search for novel biomarkers, and identifying correlation with the clinical course (prediction of survival prognosis and evaluation of treatment effect). Integration of the above research outcomes will give a foothold for the establishment of individual treatment.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

稀少疾患であるが故に本邦では同様の研究はほとんど行われていない。一方、欧米での報告が必ずしも日本人にも当てはまるとは限らず、本邦における独自の検証が必要である。当院は全国で最も眼部悪性腫瘍症例の多い施設のひとつであり、我々は生命予後や診断や再発の新規バイオマーカーになり得るゲノムの網羅的検索を行う責務があると考えている。また、ゲノムの包括的解析を臨床情報と組み合わせることで、発癌経路の解明へと発展していくことも期待される。ゲノムワイドに眼部悪性腫瘍の病態が解明されることで、個々の症例に有用な検査や治療を選択することが可能となれば、医療費の削減効果も期待される。