胃と腸58巻12号

2023年12月発行

今月の主題 遺伝性消化管疾患を考える 主題

家族性大腸腺腫症以外の大腸腺腫症—臨床像と遺伝子バリアント

著者： 石田秀行¹ 近範泰¹ 伊藤徹哉¹ 幡野哲¹ 鈴木興秀² 母里淑子² 石畝亨¹ 松山貴俊¹ 熊谷洋一¹ 田辺記子² 高雄美里³ 高雄暁成⁴ 山口達郎⁵ 江口英孝⁶ 岡﨑康司⁶

所属機関： ¹埼玉医科大学総合医療センター消化管・一般外科 ²埼玉医科大学総合医療センターゲノム診療科 ³がん・感染症センター都立駒込病院　外科 ⁴がん・感染症センター都立駒込病院　消化器内科 ⁵がん・感染症センター都立駒込病院　遺伝子診療科 ⁶順天堂大学難病の診断と治療研究センター

ページ範囲：P.1609 - P.1616

要旨●家族性大腸腺腫症以外の大腸腺腫症の原因遺伝子として，2002〜2022年の期間に少なくとも8種類（POLE，POLD1，MUTYH，AXIN2，MLH3，MSH3，NTHL1，MBD4）が同定されている．原因遺伝子により，遺伝形式，大腸外腫瘍性病変のスペクトラムが異なる．これらの遺伝子異常を原因とする大腸腺腫症の大腸腺腫の個数は100個未満であることがほとんどである．通常の遺伝学的検査では説明できない大腸腺腫症として最も頻度が高いと考えられるのが体細胞APCモザイクであり，次世代シークエンス技術の発達とともに報告例が増加している．家族性大腸腺腫症と臨床診断されるケースに含まれている可能性がある．

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