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A comprehensive gene mutation profiling of ctDNA-liquid biopsy samples from cervical cancer patients

Research Project

Project/Area Number 20K18228
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) 2020-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2021: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2020: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywordsリキッドバイオプシー / 子宮頸癌
Outline of Research at the Start

進行子宮頸癌の予後は不良であり,新規薬剤選択バイオマーカーとして,腫瘍組織の遺伝子変異数の指標であるTumor Mutation Burden (TMB) が報告されている.近年TMBをLiquid Biopsyで検出する,“Blood TMB (bTMB)”が効果予測マーカーとして注目を集めており、本研究では子宮頸癌の治療における新規血液バイオマーカーとしてのbTMBの有用性について検討する.

Outline of Final Research Achievements

Here, we show the usefulness of liquid biopsy in cervical cancer. In this study, we examined the mutation profiles of plasma samples obtained from 38 cervical cancer patients. Gene alterations were detected in 33/38 (87%) cases. Of 38 patients, 24 (63%) showed one or more nonsynonymous pathogenic somatic mutations, and the most frequently mutated genes was PIK3CA [13/38 (34%)], including two PIK3CA double-mutated cases. Copy number gains of EGFR, MET, ERBB2 genes were detected in 9/38 (24%), 4/38 (11%), 2/38 (5%) cases, respectively. In six concurrent chemoradiotherapy (CCRT) treated cervical cancer cases, the change of gene mutation patterns between pre- and post-CCRT liquid biopsy was associated with treatment response. These findings suggest that the characterization of the genetic profiles of independent tumors using liquid biopsy may lead to the development of novel personalized treatment strategies in cervical cancer.

Academic Significance and Societal Importance of the Research Achievements

これまで解明されていなかった、子宮頸癌におけるctDNA-Liquid Biopsyの有用性について検討し、有用性を示せた。個別化医療に対しては今後はctDNA-Liquid Biopsyは必須項目となってくることが考えられ、研究成果の学術的意義や社会的意義は高いと考えられる。

Report

(4 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • 2020 Research-status Report
  • Research Products

    (1 results)

All 2022

All Journal Article (1 results)

  • [Journal Article] 今月の臨床 がん遺伝子検査に基づく婦人科がん治療-最前線のレジメン選択法を理解する 今後期待される検査 リキッドバイオプシーの有用性2022

    • Author(s)
      岩橋 尚幸、井箟 一彦
    • Journal Title

      臨床婦人科産科

      Volume: 76 Issue: 3 Pages: 380-386

    • DOI

      10.11477/mf.1409210621

    • ISSN
      0386-9865, 1882-1294
    • Year and Date
      2022-04-10
    • Related Report
      2021 Research-status Report

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Published: 2020-04-28   Modified: 2024-01-30  

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