臨床検査64巻7号

2020年07月発行

今月の特集1 骨髄不全症の病態と検査

—再生不良性貧血—再生不良性貧血におけるクローン性造血

著者： 牧島秀樹¹

所属機関： ¹京都大学大学院医学研究科腫瘍生物学講座

ページ範囲：P.740 - P.747

Point

●再生不良性貧血（AA）は自己免疫反応に起因する骨髄不全症候群であり，腫瘍性病変ではない．しかしながら，本症の低形成骨髄はクローナルな細胞集団によって構成されている．

●AAに伴うクローン性造血は，古典的なX染色体のskewingの発見にはじまり，発作性夜間ヘモグロビン尿症（PNH）様血球の検出，さらにはコピー数解析によるUPD6pの発見および次世代シーケンスによる遺伝子変異の検出により証明された．

●AAは骨髄異形成症候群（MDS）など腫瘍性疾患へしばしば移行するが，両者のゲノム異常は明らかに異なる．血液疾患のない高齢者に認められるクローン造血とは一部共通性はあるものの，やはり異なったゲノム異常を呈する．

●AAの原因である自己免疫反応に曝露された骨髄細胞が，そこからエスケープすることによってクローン性造血が生じる．

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