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臓神経内分泌腫瘍の全ゲノム図
Aldo Scarpa1,2, David K Chang3,4,5,6,7, Katia Nones8,9
1ARC-Net Centre for Applied Research on Cancer, University and Hospital Trust of Verona, Verona 37134, Italy.
Nature
|February 16, 2017
まとめ
臓神経内分泌腫瘍 (PanNETs) のゲノム解析は,MUTYH,CHEK2,BRCA2のようなDNA修復遺伝子における頻繁な生殖系変異を明らかにしています. これらの発見は,PanNETの病原性を理解し,臨床管理を改善するために極めて重要です.
科学分野:
- 腫瘍学
- 遺伝学
- 分子生物学
背景:
- 臓神経内分泌腫瘍 (PanNETs) の診断は,検出の強化により増加しており,臨床管理の課題を提起しています.
- パンネットのゲノム基盤を理解することは 標的型療法と患者の改善のために不可欠です
研究 の 目的:
- 全ゲノムシーケンスを通して,PanNETの病原性を駆動するゲノムイベントを定義する.
- 主要な変異シグネチャーと影響された経路を識別する.
主な方法:
- 全ゲノムシーケンシング 102の主要なPanNETs.
- 塩基切除修復の欠陥を含む変異シグネチャーの分析
- 癌に関連する重要な遺伝子の生殖線と体変異の特定.
- 腫瘍のサブグループを特定するための遺伝子発現分析
主要な成果:
- MUTYHの不活性化による塩基切除修復の欠陥が特定されました.
- 臨床的に散発的なPanNETは,DNA修復遺伝子 (MUTYH,CHEK2,BRCA2) とMEN1,VHL) の生殖線変異の有意な割合を示した.
- ソマティック突然変異は,クロマチンの改造,DNA損傷修復,mTORシグナル伝達 (EWSR1融合を含む) およびテロメアの維持経路に影響を及ぼした.
- 低酸素とHIFシグナル伝達に関連する腫瘍のサブグループが遺伝子発現分析によって特定されました.
結論:
- DNA修復と腫瘍抑制遺伝子の生殖系統変異は,以前に認識されていたよりも,PanNETsでより一般的です.
- パンNETの病原化には,クロマチンの改造,DNA修復,mTORシグナル伝達,およびテロメアの維持の障害が含まれる.
- 特定されたゲノム変異は,PanNETの開発と潜在的な治療目標に関する洞察を提供します.
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