胃と腸45巻13号

2010年12月発行

今月の主題 遺伝性消化管疾患の特徴と長期経過

主題

遺伝性非ポリポーシス大腸癌の臨床病理と分子異常―孤発性MSI陽性大腸癌との比較

著者： 菅井有¹ 上杉憲幸¹ 幅野渉² 小西康弘¹ 無江良晴¹ 鈴木正通¹ 大塚幸喜³ 若林剛³ 千葉俊美⁴ 鈴木一幸⁴

所属機関： ¹岩手医科大学医学部病理学講座分子診断病理学分野 ²岩手医科大学薬学部薬物代謝動態学講座 ³岩手医科大学医学部外科学講座 ⁴岩手医科大学医学部内科学講座消化器肝臓内科分野

ページ範囲：P.2065 - P.2078

文献概要

要旨　遺伝性非ポリポーシス大腸癌（HNPCC）と孤発性MSI陽性大腸癌の臨床病理および分子異常について述べる．両者の共通の分子異常はMSIである．HNPCCはミスマッチ修復遺伝子の生殖細胞レベルの変異が原因であるが，孤発性MSI陽性大腸癌では体細胞レベルでのMLH-1のメチル化が原因とされている．MSI陽性大腸癌の共通の病理像は，右側発生，粘液癌/低分化腺癌，髄様所見，腫瘍内リンパ球浸潤（TIL）であるが，特にTILの有無が最も重要である．HNPCCと孤発性MSI陽性大腸癌との臨床病理学的鑑別も重要である．両者の最大の鑑別点は，年齢と癌の多発性の有無である．HNPCCは60歳以下（50歳以下であればほぼ確実）で癌の多発傾向があるのに対して，孤発性MSI陽性大腸癌は明らかに高齢発生（65歳以上がほとんど）である．両者の臨床病理学的所見の違いは相対的であるが，粘液癌や圧排性増殖の所見は孤発性MSI陽性大腸癌に多いとされている．HNPCCと孤発性MSI陽性大腸癌は厳密に鑑別されるべきで，両者の臨床病理学的所見と分子異常の違いを理解することが重要である．

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