臨床検査54巻3号

2010年03月発行

今月の主題 骨髄増殖性疾患 総論

骨髄増殖性疾患の遺伝子変異

著者： 永田賢治¹ 下田和哉²

所属機関： ¹宮崎大学医学部附属病院肝疾患センター ²宮崎大学医学部内科学講座消化器血液学分野

ページ範囲：P.234 - P.240

　慢性骨髄性白血病におけるBCR-ABLの形成をはじめとして，骨髄増殖性疾患ではJAK2，KITの変異，PDGFRA，PDGFRB，FGFR1とそれぞれのパートナー遺伝子との融合が見いだされてきた．これらの遺伝子異常は，リガンド非依存性のチロシンキナーゼの活性化および細胞の自律増殖をもたらし，骨髄増殖性疾患の発症原因となっている．さらに，JAK2変異の出現しやすさを規定する遺伝的背景，あるいはpre-JAK2変異と呼ぶべき遺伝子変異も同定され，骨髄増殖性疾患の分子病態が明らかにされつつある．

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