胃と腸39巻8号

2004年07月発行

今月の主題 家族性大腸腺腫症―最近の話題

主題

家族性大腸腺腫症の臨床徴候と遺伝子変異の関係

著者： 松本主之¹ 矢鳴律子¹ 小堀陽一郎² 中村昌太郎¹ 檜沢一興³ 江崎幹宏¹ 王寺裕⁴ 平橋美奈子⁴ 八尾隆史⁴ 飯田三雄¹

所属機関： ¹九州大学大学院医学研究院病態機能内科学 ²松山市民病院内科 ³公立学校共済組合九州中央病院内科 ⁴九州大学大学院医学研究院形態機能病理

ページ範囲：P.1099 - P.1112

文献概要

要旨　自験家族性大腸腺腫症（FAP）52例の臨床徴候とAPC遺伝子変異の関係を検討した．臨床徴候をエクソン10までの5´側変異群，エクソン11より近位側の3´側変異群，変異陰性群で比較すると，密生型大腸腺腫症，十二指腸非乳頭部腺腫，骨腫，網膜色素上皮過形成の陽性率が3´側変異群で最も高かった．一方，3群間で十二指腸腺腫症と残存直腸の経過に明らかな違いを指摘できなかったが，大腸癌以外の悪性腫瘍として3´側変異群では十二指腸・小腸癌，および肝細胞芽腫が発生したのに対し，変異陰性群では膵癌，胃癌，直腸カルチノイドが発生していた．同一家系内の複数例では，デスモイド腫瘍，胃底腺ポリポーシス，十二指腸乳頭部腺腫の発生に乖離がみられた．以上より，FAPにおける網膜色素上皮過形成，骨腫，十二指腸非乳頭腺部腺腫，および大腸癌以外の悪性腫瘍はAPC遺伝子変異に影響を受ける可能性が示唆された．

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