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

Research Project

Project/Area Number 16K11304
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
Research InstitutionTokyo 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
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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)
Keywords眼悪性腫瘍 / IgG4関連眼疾患 / ぶどう膜悪性黒色腫 / 眼窩悪性リンパ腫 / 次世代シークエンサー / 網羅的検索 / 悪性リンパ腫 / 遺伝子 / ゲノム / 細胞組織
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.

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。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (31 results)

All 2018 2017 2016

All Journal Article (7 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 6 results,  Open Access: 6 results,  Acknowledgement Compliant: 2 results) Presentation (22 results) (of which Int'l Joint Research: 10 results,  Invited: 7 results) Book (2 results)

  • [Journal Article] Punctate retinal pigment epitheliopathy and choroidopathy after radiotherapy with chemotherapy2018

    • Author(s)
      Usui Yo, Mizusawa T, Goto H
    • Journal Title

      JAMA Ophthalmology

      Volume: 136 Issue: 8 Pages: e181754-e181754

    • DOI

      10.1001/jamaophthalmol.2018.1754

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Factors in glucocorticoid regimens associated with treatment response and relapses of IgG4-related disease: a multicentre study2018

    • Author(s)
      Shirakashi Mirei、Yoshifuji Hajime、Kodama Yuzo、Chiba Tsutomu、Yamamoto Motohisa、Takahashi Hiroki、Uchida Kazushige、Okazaki Kazuichi、Ito Tetsuya、Kawa Shigeyuki、Yamada Kazunori、Kawano Mitsuhiro et al.
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 10262-10262

    • DOI

      10.1038/s41598-018-28405-x

    • NAID

      120007134012

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Propionibacterium acnesas a possible pathogen of granuloma in patients with ocular sarcoidosis2017

    • Author(s)
      Goto Hiroshi、Usui Yoshihiko、Umazume Akihiko、Uchida Keisuke、Eishi Yoshinobu
    • Journal Title

      British Journal of Ophthalmology

      Volume: 101 Issue: 11 Pages: 1510-1513

    • DOI

      10.1136/bjophthalmol-2016-309248

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Target volume dose and clinical outcome in radiotherapy for primary marginal zone lymphoma of the ocular adnexa2017

    • Author(s)
      Shirota Natuhiko、Nakayama Hidetsugu、Shiraishi Sachica、Usui Yoshihiko、Kimura Keisuke、Sanada Tomohide、Kennoki Norifumi、Okubo Mitsuru、Goto Hiroshi、Tokuuye Koichi
    • Journal Title

      Molecular and Clinical Oncology

      Volume: 6 Issue: 6 Pages: 833-838

    • DOI

      10.3892/mco.2017.1241

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] 眼窩・眼周囲組織にみられる腫瘍の診断・治療に関する検査2017

    • Author(s)
      後藤 浩
    • Journal Title

      臨床眼科増刊号 眼科基本検査パーフェクトガイド 倫理と実技のすべてがわかる

      Volume: 71 Pages: 314-319

    • Related Report
      2017 Research-status Report
  • [Journal Article] Aqueous immune mediators in malignant uveal melanomas in comparison to benign pigmented intraocular tumors.2017

    • Author(s)
      Usui Y, Tsubota K, Agawa T, Ueda S, Umazume K, Okunuki Y, Kezuka T, Yamakawa N, Goto H.
    • Journal Title

      Graefes Arch Clin Exp Ophthalmol

      Volume: 255 Issue: 2 Pages: 393-399

    • DOI

      10.1007/s00417-016-3541-5

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Comprehensive polymerase chain reaction assay for detection of pathogenic DNA in lymphoproliferative disorders of the ocular adnexa.2016

    • Author(s)
      Usui Y, Rao NA, Takase H, Tsubota K, Umazume K, Diaz-Aguilar D, Kezuka T, Mochizuki M, Goto H, Sugita S.
    • Journal Title

      Sci Rep

      Volume: 6 Issue: 1 Pages: 36621-36621

    • DOI

      10.1038/srep36621

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] Molecular analysis of orbital lymphoproliferative disorders.2018

    • Author(s)
      Usui Y
    • Organizer
      The 33rd Asia-Pacific Academy of Ophthalmology Congress, Hong Kong.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Masquerade syndrome.2018

    • Author(s)
      Goto H
    • Organizer
      The 7th Indo-China Intraocular Inflammation and Infection Meeting , Mongolia.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Analysis of clinical features of primary vitreoretinal lymphoma followed for over 5years.2018

    • Author(s)
      Tsubota K, Usui Y, Umazume K, Nemoto R, Shibata M, Goto H
    • Organizer
      Annual Meeting of the Association for Research in Vision and Ophthalmology, Honolulu, USA.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Genetic analysis of IgG4-related ophthalmic disease using nextgeneration sequencing.2018

    • Author(s)
      Ogawa M, Usui Y, Yamakawa N, Umazume K, Nemoto R, Goto H
    • Organizer
      Annual Meeting of the Association for Research in Vision and Ophthalmology, Honolulu, USA.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Clinical features of primary vitreoretinal lymphomas with lesions involving organs other than central nervous system.2018

    • Author(s)
      Imazeki M, Usui Y, Tsubota K, Umazue K, Nemoto R, Goto H
    • Organizer
      Annual Meeting of the Association for Research in Vision and Ophthalmology, Honolulu, USA.
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 眼腫瘍に対する外科的治療の実際2017

    • Author(s)
      後藤 浩
    • Organizer
      第4回雪明・新潟眼科フォーラム
    • Related Report
      2017 Research-status Report
    • Invited
  • [Presentation] 著しい眼球偏位を生じている眼窩腫瘍の診断と治療の是非2017

    • Author(s)
      後藤 浩
    • Organizer
      第32回日本眼窩疾患シンポジウム
    • Related Report
      2017 Research-status Report
  • [Presentation] 日頃あまり見ることのない眼腫瘍の治療2017

    • Author(s)
      後藤 浩
    • Organizer
      第1回江東眼科学術研究会
    • Related Report
      2017 Research-status Report
    • Invited
  • [Presentation] 眼腫瘍に対する外科的治療の現状2017

    • Author(s)
      後藤 浩
    • Organizer
      第8回千代田眼科夏のフォーラム
    • Related Report
      2017 Research-status Report
  • [Presentation] 眼腫瘍に対する外科的治療の現状2017

    • Author(s)
      後藤 浩
    • Organizer
      平成29年度東京都眼科医会卒後研修会
    • Related Report
      2017 Research-status Report
  • [Presentation] Masquerade syndrome.2017

    • Author(s)
      Goto H
    • Organizer
      The 58th the annual meeting of the Ophthalmological Society of Taiwan
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Behçet Disease:Stepladder Approach to Management.2017

    • Author(s)
      Goto H
    • Organizer
      The 11th Asia-Pacific Vitreo-retina Society Congress
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Masquerade syndrome.2017

    • Author(s)
      Goto H
    • Organizer
      The 6th Indo-China Ocular Inflammation/ Infection Meeting
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Immunophenotypic profiles for inflammatory cell of Chalazion Pyogenic granuloma.2017

    • Author(s)
      Nemoto R, Usui Y, Goto H
    • Organizer
      The 18th International Society of Ocular Oncology Biennial Conference.
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Genetic alterationas in IgG4-related ophthalmic disease identified using next-generations sequencing.2017

    • Author(s)
      Ogawa M, Usui Y, Yamakawa N, Umazume K, Tsubota K, Nemoto R, Goto H
    • Organizer
      2017 Annual Meeting of the Association for Research in Vision and Ophthalmology.
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] 次世代シークエンサ-によるIgG4 関連眼疾患の遺伝子解析から同定した遺伝子変異2017

    • Author(s)
      小川麻里奈、臼井嘉彦、山川直之、馬詰和比古、坪田欣也、根本 怜、後藤 浩
    • Organizer
      第96回東京医科大学免疫アレルギー研究会
    • Related Report
      2017 Research-status Report
  • [Presentation] 脈絡膜メラノーマの全体予後に関わる因子の検討2017

    • Author(s)
      後藤 浩、上田俊一郎、臼井嘉彦、森 秀樹
    • Organizer
      第121回日本眼科学会総会
    • Related Report
      2017 Research-status Report
  • [Presentation] 次世代シークエンサ-によるIgG4 関連眼疾患の遺伝子解析から同定した遺伝子変異2017

    • Author(s)
      小川麻里奈、臼井嘉彦、山川直之、馬詰和比古、坪田欣也、根本 怜、後藤 浩
    • Organizer
      第121回日本眼科学会総会
    • Related Report
      2017 Research-status Report
  • [Presentation] 脈絡膜メラノーマ組織を用いた染色体の検索と転移に関する検討2016

    • Author(s)
      後藤 浩,臼井嘉彦,森 秀樹,上田俊一郎,馬詰和比古
    • Organizer
      第70回日本臨床眼科学会
    • Place of Presentation
      京都
    • Year and Date
      2016-11-03
    • Related Report
      2016 Research-status Report
  • [Presentation] 新たに開発された蛍光プローブによる外眼部悪性腫瘍の迅速診断への応用2016

    • Author(s)
      臼井嘉彦,山川直之,成松明知,後藤 浩,金蔵孝介,黒田雅彦,浦野泰照
    • Organizer
      第34回日本眼腫瘍学会
    • Place of Presentation
      神戸
    • Year and Date
      2016-10-02
    • Related Report
      2016 Research-status Report
  • [Presentation] 次世代シークエンサーを用いたIgG4関連眼疾患の遺伝子解析:パイロットスタディ―2016

    • Author(s)
      臼井嘉彦,山川直之,坪田欣也,馬詰和比古,根本 怜,後藤 浩
    • Organizer
      第31回日本眼窩疾患シンポジウム
    • Place of Presentation
      福島
    • Year and Date
      2016-09-10
    • Related Report
      2016 Research-status Report
  • [Presentation] MultiplexおよびBroad-range PCR法を用いた眼窩リンパ増殖性疾患における病原体遺伝子の網羅的解析2016

    • Author(s)
      臼井嘉彦,毛塚剛司,後藤 浩,高瀬 博
    • Organizer
      第95回免疫アレルギー研究会
    • Place of Presentation
      東京
    • Year and Date
      2016-06-14
    • Related Report
      2016 Research-status Report
  • [Book] 眼瞼・結膜腫瘍アトラス2017

    • Author(s)
      後藤 浩
    • Total Pages
      176
    • Publisher
      医学書院
    • ISBN
      9784260032223
    • Related Report
      2017 Research-status Report
  • [Book] 眼底疾患パーフェクトアトラス2017

    • Author(s)
      後藤 浩、飯田知弘、近藤峰生、石龍鉄樹、他
    • Total Pages
      402
    • Publisher
      文光堂
    • ISBN
      9784830655494
    • Related Report
      2017 Research-status Report

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Published: 2016-04-21   Modified: 2020-03-30  

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