アブストラクト
| Title | Down症候群関連白血病の分子病態 |
|---|---|
| Subtitle | 特集 小児血液・腫瘍疾患の最前線 II. 研究の最前線 |
| Authors | 照井君典, 伊藤悦朗 |
| Authors (kana) | |
| Organization | 弘前大学大学院医学研究科小児科学講座 |
| Journal | 小児科診療 |
| Volume | 83 |
| Number | 4 |
| Page | 497-504 |
| Year/Month | 2020 / 4 |
| Article | 報告 |
| Publisher | 診断と治療社 |
| Abstract | 「Summary」●Down症候群は小児白血病を発症するリスクが高く, 急性骨髄性白血病(AML)と急性リンパ性白血病(ALL)の両者がみられる. ●Down症候群のAMLは新生児期の一過性異常骨髄増殖症(TAM)と関連しており, 両者のほぼ全例でGATA1変異が認められる. ●次世代シーケンサーを用いた網羅的遺伝子解析の結果, TAMからAMLへの進展には, コヒーシン複合体, エピゲノム制御因子, シグナル伝達分子などの遺伝子異常が重要であることが明らかになった. ●Down症候群のALLの分子病態も明らかになりつつあり, 今後の発展が期待される. |
| Practice | 臨床医学：内科系 |
| Keywords | Down症候群, トリソミー21, 白血病, 一過性異常骨髄増殖症, GATA1 |
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残りの10件を表示する
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