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comprehensive gene mutation profiling in liquid biopsy from gynecological cancer

Research Project

Project/Area Number 18K16776
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 56040:Obstetrics and gynecology-related
Research InstitutionWakayama Medical University

Principal Investigator

Iwahashi Naoyuki  和歌山県立医科大学, 医学部, 助教 (50750907)

Project Period (FY) 2018-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Keywordsリキッドバイオプシー / 婦人科癌 / 個別化医療 / Liquid biopsy / 卵巣癌 / 子宮頸癌 / 子宮体癌
Outline of Final Research Achievements

Liquid biopsies of circulating tumor DNA (ctDNA) can detect tumor-specific molecular alterations and have been used as a non-invasive diagnostic, prognostic, and predictive tool. We investigated comprehensive gene mutation profiling in gynecological cancer utilizing plasma ctDNA. We examined the mutation profiles of plasma ctDNA samples obtained from 50 gynecological cancers (31 ovarian cancers, 5 endometrial cancers, 4 cervical cancers, and 10 other rare pathological types of cancer) by CAPP-seq, a novel ultrasensitive NGS-based approach, with AVENIO ctDNA Surveillance Kit (197genes). Among 50 cancers, 49 (98%) harbored one or more non-synonymous somatic mutation. The most frequently altered genes were TP53 (38%), APC (22%), KRAS (22%), EGFR (14%). These findings suggest that characterization of the genetic profiles of independent tumors using plasma ctDNA may lead to the development of novel personalized treatment strategies in gynecological cancer.

Academic Significance and Societal Importance of the Research Achievements

進行婦人科癌の長期予後は不良であり、今後の婦人科癌の治療戦略として、患者個々の遺伝子変異プロファイルに合わせた適切な抗癌剤・分子標的薬の選択が予後の改善に重要となる。 Liquid Biopsyにより新たな標的遺伝子を同定し、婦人科悪性腫瘍における治療標的遺伝子のメカニズムを解明することにより、既存の抗癌剤や分子標的薬の感受性も含めた新たな治療戦略の検討や、 新規分子標的薬の開発へと発展させることができ、本研究は新規Precision medicine治療の推進のために意義の大きな研究と考えられる。

Report

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

    (12 results)

All 2020 2019 2018

All Journal Article (4 results) (of which Peer Reviewed: 4 results,  Open Access: 4 results) Presentation (8 results) (of which Int'l Joint Research: 1 results)

  • [Journal Article] Changes in the gene mutation profiles of circulating tumor DNA detected using CAPP?Seq in neoadjuvant chemotherapy?treated advanced ovarian cancer2020

    • Author(s)
      Noguchi Tomoko、Sakai Kazuko、Iwahashi Naoyuki、Matsuda Kaho、Matsukawa Hitomi、Yahata Tamaki、Toujima Saori、Nishio Kazuto、Ino Kazuhiko
    • Journal Title

      Oncology Letters

      Volume: ー Pages: 2713-2720

    • DOI

      10.3892/ol.2020.11356

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] C?Mannosyl tryptophan increases in the plasma of patients with ovarian cancer2020

    • Author(s)
      Iwahashi Naoyuki、Inai Yoko、Minakata Shiho、Sakurai Sho、Manabe Shino、Ito Yukishige、Ino Kazuhiko、Ihara Yoshito
    • Journal Title

      Oncology Letters

      Volume: 19 Pages: 908-916

    • DOI

      10.3892/ol.2019.11161

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Liquid biopsy-based comprehensive gene mutation profiling for gynecological cancer using CAncer Personalized Profiling by deep Sequencing2019

    • Author(s)
      Iwahashi Naoyuki、Sakai Kazuko、Noguchi Tomoko、Yahata Tamaki、Matsukawa Hitomi、Toujima Saori、Nishio Kazuto、Ino Kazuhiko
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 10426-10426

    • DOI

      10.1038/s41598-019-47030-w

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A comprehensive gene mutation analysis of liquid biopsy samples from patients with metastatic colorectal cancer to the ovary: A case report2018

    • Author(s)
      Iwahashi N, Sakai K, Noguchi T, Yahata T, Toujima S, Nishio K, Ino K
    • Journal Title

      Oncol Lett

      Volume: 16 Pages: 6431-6436

    • DOI

      10.3892/ol.2018.9467

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 婦人科癌liquid biopsyによるblood Tumor Mutation Burden解析2019

    • Author(s)
      岩橋 尚幸,野口 智子,八幡 環,馬渕 泰士,八木 重孝,南 佐和子, 井箟 一彦
    • Organizer
      第140回近畿産科婦人科学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 婦人科癌におけるctDNAを用いたblood tumor mutational burdenと網羅的遺伝子変異解析2019

    • Author(s)
      岩橋 尚幸, 坂井 和子, 野口 智子, 馬淵 泰士, 西尾 和人, 井箟 一彦
    • Organizer
      第57回日本癌治療学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Liquid biopsyによる卵巣癌術前化学療法の治療効果予測に関する研究2019

    • Author(s)
      野口 智子, 岩橋 尚幸, 馬淵 泰士, 八木 重孝, 坂井 和子, 西尾 和人, 井箟 一彦
    • Organizer
      第57回日本癌治療学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] A comprehensive gene mutation profiling of liquid biopsy samples from patients with gynecologic cancer2018

    • Author(s)
      Naoyuki Iwahashi, Kazuko Sakai, Tomoko Noguchi, Tamaki Yahata, Saori Toujima, Kazuto Nishio, Kazuhiko Ino
    • Organizer
      The 17th Biennial Meeting of the International Gynecologic Cancer Society
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] CAPP-seqを用いた婦人科癌Liquid biopsyによる網羅的遺伝子変異プロファイリング2018

    • Author(s)
      岩橋 尚幸,坂井 和子,八幡 環,東嶋 左緒里,西尾 和人,井箟 一彦
    • Organizer
      第16回日本臨床腫瘍学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] A comprehensive gene mutation profiling of liquid biopsy samples from gynecologic cancer patients by using CAPP-seq2018

    • Author(s)
      Naoyuki Iwahashi, Kazuko Sakai, Tomoko Noguchi, Tamaki Yahata, Saori Toujima, Kazuto Nishio, Kazuhiko Ino
    • Organizer
      第56回日本癌治療学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 婦人科癌Liquid biopsyによる網羅的遺伝子変異プロファイリング2018

    • Author(s)
      岩橋 尚幸,坂井 和子,八幡 環,東嶋 左緒里,西尾 和人,井箟 一彦
    • Organizer
      第17回婦人科がん分子標的研究会
    • Related Report
      2018 Research-status Report
  • [Presentation] Liquid biopsyによる婦人科腫瘍の網羅的遺伝子変異・発現解析 ~17症例の検討から~.2018

    • Author(s)
      岩橋 尚幸
    • Organizer
      第6回和歌山婦人科腫瘍研究会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2021-02-19  

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