パンガンゲノムとトランスクリプトームの分析,1,699の小児白血病と固体腫瘍
Xiaotu Ma1, Yu Liu1, Yanling Liu1
1Computational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Nature
|March 1, 2018
まとめ
この研究は,小児がんの全がんゲノム解析を初めて行い,成人のがんと比較して異なる分子異常と駆動遺伝子を明らかにしています. この発見は,小児がんに特化した精密治療法の必要性を強調しています.
科学分野:
- ゲノミクス
- 腫瘍学
- 小児医学
背景:
- 全がん分析は,成人のがんの分子共通点と違いを明らかにします.
- 発達中の組織に起因する小児がんは,包括的な全がんゲノム研究が欠けている.
- 現存する研究は主に成人の上皮がんに焦点を当てています.
研究 の 目的:
- 小児白血病および固体腫瘍における体性分子異常の全がん分析を行う.
- 小児がんの共通で特徴的なゲノム特徴を特定する.
- 小児がんのゲノムアーキテクチャを確立し,精密療法開発を図る.
主な方法:
- 全ゲノム,全エクソーム,および6つのヒストタイプにわたる1,699の小児腫瘍のトランスクリプトームシーケンシング.
- 様々なゲノムデータ型に適用される統一された分析枠組み:SNV,indels,SVS,CNA,遺伝子融合,ITD.
- ゲノム全体の変異シグネチャの特定と分析
主要な成果:
- 小児がんでは142の駆動遺伝子を特定し,大人のがんと比較して55%がユニークでした.
- コピーの数の変化と構造変異は,大部分 (62%) を占めた.
- ゲノム全体の11の変異シグネチャーを発見した. その中の一つは,アヌプロイド白血病の紫外線被曝に関連している.
結論:
- 小児がんは成人がんと比べて ゲノム構造が異なっています
- 重要な割合の変異は検出可能なアレル転写とアレル特異的発現を示しています.
- この発見は,小児特異的な精密がん治療の必要性を強調しています.
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