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  1. 20 医学系研究科・医学部
  2. 20A 学術誌論文
  3. 20A1 雑誌掲載論文

Isolated loss of PMS2 immunohistochemical expression is frequently caused by heterogeneous MLH1 promoter hypermethylation in Lynch syndrome screening for endometrial cancer patients

https://doi.org/10.20569/00003439
https://doi.org/10.20569/00003439
4ee30aaf-0246-4afd-a1ee-d02d4f135ccd
名前 / ファイル ライセンス アクション
ihakukou1157.pdf ihakukou1157.pdf (1.5 MB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2017-11-13
タイトル
タイトル Isolated loss of PMS2 immunohistochemical expression is frequently caused by heterogeneous MLH1 promoter hypermethylation in Lynch syndrome screening for endometrial cancer patients
言語 en
言語
言語 eng
主題
言語 en
主題Scheme Other
主題 Lynch syndrome
主題
言語 en
主題Scheme Other
主題 endometrial cancer
主題
言語 en
主題Scheme Other
主題 PMS2
主題
言語 en
主題Scheme Other
主題 MLH1 promoter hypermethylation
主題
言語 en
主題Scheme Other
主題 heterogeneous
資源タイプ
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
資源タイプ journal article
ID登録
ID登録 10.20569/00003439
ID登録タイプ JaLC
アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
作成者 Kato, Aya

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Sato, Naoki

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Sugawara, Tae

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Takahashi, Kazue

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Kito, Masahiko

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Makino, Kenichi

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Sato, Toshiharu

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Shimizu, Dai

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Shirasawa, Hiromitu

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Miura, Hiroshi

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Sato, Wataru

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Kumazawa, Yukiyo

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Sato, Akira

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Kumagai, Jin

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Terada, Yukihiro

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内容記述
内容記述タイプ Abstract
内容記述 Lynch syndrome (LS) is an autosomal dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) and is associated with increased risk of various cancers, particularly colorectal cancer and endometrial cancer (EC). Women with LS account for 2–6% of EC patients; it is clinically important to identify LS in such individuals for predicting and/or preventing additional LS-associated cancers. PMS2 germline mutation (PMS2-LS) is the rarest contribution to LS etiology among the four LS- associated MMR germline mutations, and its detection is complicated. Therefore, prudent screening for PMS2-LS is important as it leads to an efficient LS-identification strategy. Immunohistochemistry (IHC) is recommended as a screening method for LS in EC. Isolated loss of PMS2 expression (IL- PMS2) is caused not only by PMS2-LS but also by MLH1 germline mutation or MLH1 promoter hypermethylation (MLH-PHM). This study aimed to determine the association between MLH1-PHM and IL-PMS2 to avoid inappropriate genetic analysis. We performed MLH1 methylation analysis and MLH1/PMS2 germline mutation testing for the IL-PMS2 cases. By performing MMR-IHC for 360 unselected ECs, we selected eight (2.2%) cases as IL-PMS2. Heterogeneous MLH1 staining and MLH1-PHM were detected in 4/8 (50%) IL-PMS2 tumors. Out of five IL-PMS2 patients who underwent genetic analysis, one had PMS2 germline mutation with normal MLH1 expression (without MLH1-PHM) and no MLH1 germline mutation was detected. We suggest that MLH1 promoter methylation analysis for IL-PMS2 EC should be performed to exclude sporadic cases prior to further PMS2 genetic testing.
言語 en
内容記述
内容記述タイプ Other
内容記述 秋田大学審査学位論文の著者稿, 学位名:博士(医学), 学位授与年月日:20160322, 学位授与番号:11401甲第1157号
言語 ja
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
書誌情報 en : American Journal of Surgical Pathology

巻 40, 号 6, p. 770-776, 発行日 2016
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 15320979
収録物識別子
収録物識別子タイプ NCID
収録物識別子 AA12538905
出版者
出版者 Lippincott Williams and Wilkins
言語 en
関連情報
関連タイプ isVersionOf
識別子タイプ DOI
関連識別子 https://doi.org/10.1097/PAS.0000000000000606
権利者情報
権利者名 Lippincott Williams and Wilkins
言語 en
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