MSH6遺伝子の生殖細胞系列変異が認められたLynch症候群大腸癌の1例

ミスマッチ修復遺伝子の一つであるMSH6の変異を原因とするリンチ症候群大腸癌を経験したので報告する．症例は25歳の女性で，便潜血陽性と貧血を主訴とし受診した．家族歴では，父方の祖父が大腸癌，祖母が膵臓癌，母方の祖母が子宮内膜癌に罹患していた．2型横行結腸癌に対し，結腸部分切除（D3）を施行した．病理組織学的検索では，T3N0M0 stage IIの低分化腺癌で，術後6か月間，UFT/LVによる補助化学療法を行った．改訂ベセスダガイドラインの3項目を満たすことから，リンチ症候群のスクリーニングとしてマイクロサテライト不安定性（microsatellite instability；MSI）検査を行...

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Published in日本消化器外科学会雑誌 Vol. 48; no. 7; pp. 618 - 627
Main Authors 幡野, 哲, 石田, 秀行, 隈元, 謙介, 熊谷, 洋一, 福地, 稔, 松澤, 岳晃, 石橋, 敬一郎, 近, 範泰, 持木, 彫人, 鈴木, 興秀
Format Journal Article
LanguageJapanese
Published 一般社団法人 日本消化器外科学会 2015
Subjects
MSH6遺伝子
リンチ症候群
遺伝性大腸癌
Online AccessGet full text
ISSN0386-9768
1348-9372
DOI10.5833/jjgs.2014.0181

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Abstract ミスマッチ修復遺伝子の一つであるMSH6の変異を原因とするリンチ症候群大腸癌を経験したので報告する．症例は25歳の女性で，便潜血陽性と貧血を主訴とし受診した．家族歴では，父方の祖父が大腸癌，祖母が膵臓癌，母方の祖母が子宮内膜癌に罹患していた．2型横行結腸癌に対し，結腸部分切除（D3）を施行した．病理組織学的検索では，T3N0M0 stage IIの低分化腺癌で，術後6か月間，UFT/LVによる補助化学療法を行った．改訂ベセスダガイドラインの3項目を満たすことから，リンチ症候群のスクリーニングとしてマイクロサテライト不安定性（microsatellite instability；MSI）検査を行ったところ，高頻度マイクロサテライト不安定（microsatellite instability high；MSI-H）であった．ミスマッチ修復タンパクに対する免疫染色検査では，大腸癌細胞の核でMSH6タンパクのみが欠失していた．遺伝学的検査では，MSH6のexon 5，codon 1087にフレームシフト変異が認められた．術後3年5か月経過した現在，無再発生存中である．
AbstractList ミスマッチ修復遺伝子の一つであるMSH6の変異を原因とするリンチ症候群大腸癌を経験したので報告する．症例は25歳の女性で，便潜血陽性と貧血を主訴とし受診した．家族歴では，父方の祖父が大腸癌，祖母が膵臓癌，母方の祖母が子宮内膜癌に罹患していた．2型横行結腸癌に対し，結腸部分切除（D3）を施行した．病理組織学的検索では，T3N0M0 stage IIの低分化腺癌で，術後6か月間，UFT/LVによる補助化学療法を行った．改訂ベセスダガイドラインの3項目を満たすことから，リンチ症候群のスクリーニングとしてマイクロサテライト不安定性（microsatellite instability；MSI）検査を行ったところ，高頻度マイクロサテライト不安定（microsatellite instability high；MSI-H）であった．ミスマッチ修復タンパクに対する免疫染色検査では，大腸癌細胞の核でMSH6タンパクのみが欠失していた．遺伝学的検査では，MSH6のexon 5，codon 1087にフレームシフト変異が認められた．術後3年5か月経過した現在，無再発生存中である．
Author 福地, 稔
幡野, 哲
鈴木, 興秀
隈元, 謙介
近, 範泰
松澤, 岳晃
熊谷, 洋一
持木, 彫人
石橋, 敬一郎
石田, 秀行
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Snippet ミスマッチ修復遺伝子の一つであるMSH6の変異を原因とするリンチ症候群大腸癌を経験したので報告する．症例は25歳の女性で，便潜血陽性と貧血を主訴とし受診した．家族...
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StartPage 618
SubjectTerms MSH6遺伝子
リンチ症候群
遺伝性大腸癌
Title MSH6遺伝子の生殖細胞系列変異が認められたLynch症候群大腸癌の1例
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