非侵襲的な肺がん早期発見のためのゲノム特性の統合
Jacob J Chabon1,2, Emily G Hamilton3, David M Kurtz4,5,6
1Stanford Cancer Institute, Stanford University, Stanford, CA, USA.
Nature
|April 10, 2020
まとめ
新しい血液検査は,細胞フリーDNA (cfDNA) を分析することで,肺がんの早期発見を改善します. Lung-CLiPと呼ばれる この革新的なアプローチは 高リスクの個人に 肺がんのスクリーニングの普及を 約束しています
科学分野:
- 腫瘍学
- ゲノミクス
- バイオマーカーの発見
背景:
- 肺がんのスクリーニングは死亡率を低下させるが,米国では普及率は低い.
- 血液ベースの検査はスクリーニングの参加を高めることができます.
- 循環する腫瘍DNA (ctDNA) 解析は,がんの早期発見の可能性を示しています.
研究 の 目的:
- 肺がんのスクリーニングのためのctDNA分析を改善するために.
- 肺がんの早期発見のための血液ベースの検査を開発する.
- 細胞フリーDNAにおけるクローナルの血液形成から癌に起因する変異を区別する.
主な方法:
- ctDNA分析のためのディープシーケンシング (CAPP-Seq) による強化されたがんパーソナライズドプロファイリング.
- 肺がん患者および対照群の細胞フリーDNA (cfDNA) の体内変異の分析.
- 機械学習モデル (Lung-CLiP) の開発と将来の検証
主要な成果:
- ctDNAはほとんどの早期の肺がんに存在し,前兆を示します.
- 肺がんと対照群のほとんどのcfDNA変異は,腫瘍ではなく,クローン細胞形成によるものです.
- Lung-CLiPは,腫瘍情報に基づくctDNAテストと同様に,早期の肺がん患者と対照群を正確に区別します.
結論:
- cfDNA分析は肺がんのスクリーニングに重要な可能性を秘めています.
- Lung-CLiPアッセイは,初期段階の肺がんを識別する際の強固な性能を示しています.
- 症例と対照群の正確なリスクマッチングは,cfDNAベースのスクリーニング研究において極めて重要です.
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