幼児がんにおけるゲノム変異の状況
Susanne N Gröbner1,2,3, Barbara C Worst1,2,3,4, Joachim Weischenfeldt5,6
1Hopp-Children's Cancer Center at the NCT Heidelberg (KiTZ), Heidelberg, Germany.
Nature
|March 1, 2018
まとめ
この研究では24種類の小児腫瘍の 遺伝子変異を分析した. 発見により,小児がんの遺伝子プロファイルは成人と比較して異なっており,その50%近くが将来の臨床試験のための薬剤対象となる.
科学分野:
- 腫瘍学
- 遺伝学
- 癌 生物学
背景:
- パンガン分析は様々な癌の共通点と違いを調べることで 癌の生物学に関する新しい洞察を 提供します
- 小児がんの遺伝的変異を理解することは 標的治療の開発に不可欠です
研究 の 目的:
- 小児,青少年,若い成人の腫瘍の大規模なパンガンコホートにおける遺伝的変異の包括的な分析を行う.
- 大人のがんと比較して,突然変異の頻度と有意に突然変異した遺伝子の違いを特定する.
- 小児の腫瘍に薬効性のある事象の可能性を調査する.
主な方法:
- 標準化されたワークフローは,24の異なる分子型の癌から961の腫瘍を分析するために適用されました.
- 変異の頻度,有意に変異した遺伝子,構造/複製数の変異を含む遺伝子変異の識別と分類.
- 遺伝子変異,生殖系変異,TP53変異状態,変異シグネチャーとの相関分析.
主要な成果:
- 大人のがんと比較して,子供のがんでは突然変異の頻度と有意に突然変異した遺伝子の顕著な違いが観察されました.
- 149の癌誘発遺伝子の遺伝的変異は,腫瘍を小さな変異と構造/複製数の変異クラスに分類しました.
- 構造的変異,ハイパーディプロイド性,染色トリプシスはTP53変異状態と変異シグネチャーに関連していた.
- 幼児の腫瘍の7~8%は 遺伝子の変異を誘発している.
- 子どもの腫瘍の50%近くには 薬効性がある可能性がある
結論:
- 小児がんは 大人のがんと比べて 異なった遺伝的パターンを表しています
- 小児性腫瘍の有意な割合は 治療的介入のための実行可能な標的である.
- これらの発見は,小児腫瘍学における将来の臨床試験の設計にとって非常に重要である.
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