臨床検査56巻12号

2012年11月発行

今月の主題 MDS(骨髄異形成症候群) 総論

MDSの分子生物学

著者： 田部陽子¹

所属機関： ¹順天堂大学医学部附属順天堂医院臨床検査医学科

ページ範囲：P.1317 - P.1324

骨髄異形成症候群(myelodysplastic syndrome；MDS)の本態は，遺伝子異常をもつ造血幹細胞のクローン性増殖であるが，その分子生物学的病因については，いまだ不明な点が多い．しかしながら，最近の遺伝子解析技術の進歩と分子標的薬剤の開発によってMDSの分子病態が急速に解明されつつある．なかでも注目すべき点は，MDSの分子病態の形成過程において，エピジェネティックな変化と，点突然変異などの微細な遺伝子異常が重要な役割を担っていることである．本稿では，MDSのエピジェネティック異常とその責任遺伝子変異について述べるとともに，MDSに特徴的に認められるRNAスプライシング関連遺伝子異常やヘテロ接合性の消失の結果生じる複数の遺伝子変異について，MDSの分子病態形成における役割を含めて最近の知見を概説する．

参考文献

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