臨床婦人科産科73巻10号

2019年10月発行

今月の臨床 進化する子宮筋腫診療―診断から最新治療・合併症まで 病因論

子宮筋腫の病因―遺伝子異常の観点から

著者： 丸山哲夫¹

所属機関： ¹慶應義塾大学医学部産婦人科

ページ範囲：P.934 - P.940

●子宮筋腫の約70％にmediator complex subunit 12（MED12）遺伝子の変異が認められる．

●その他にはhigh mobility group AT-hook 2（HMGA2），HMGA1, fumarate hydratase（FH），collagen, type IV, alpha 5 and collagen, type IV, alpha 6（COL4A5-COL4A6）などの遺伝子異常が存在する．

●代表的なMED12およびHMGA2も含めて上記の遺伝子異常の多くが，ヒトにおいて子宮筋腫の発生・進展を引き起こすかについては不明である．

参考文献

1）丸山哲夫 : 子宮筋腫．日本臨牀別冊 内分泌症候群（第3版）―その他の内分泌疾患を含めて．pp279-286，日本臨牀社，2019

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