Item type |
学術雑誌論文 / Journal Article(1) |
公開日 |
2017-11-13 |
タイトル |
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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 |
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言語 |
en |
言語 |
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言語 |
eng |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
Lynch syndrome |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
endometrial cancer |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
PMS2 |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
MLH1 promoter hypermethylation |
主題 |
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言語 |
en |
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主題Scheme |
Other |
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主題 |
heterogeneous |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
ID登録 |
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ID登録 |
10.20569/00003439 |
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ID登録タイプ |
JaLC |
アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
作成者 |
Kato, Aya
Sato, Naoki
Sugawara, Tae
Takahashi, Kazue
Kito, Masahiko
Makino, Kenichi
Sato, Toshiharu
Shimizu, Dai
Shirasawa, Hiromitu
Miura, Hiroshi
Sato, Wataru
Kumazawa, Yukiyo
Sato, Akira
Kumagai, Jin
Terada, Yukihiro
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内容記述 |
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内容記述タイプ |
Abstract |
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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. |
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言語 |
en |
内容記述 |
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内容記述タイプ |
Other |
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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 |
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言語 |
ja |
出版タイプ |
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出版タイプ |
AM |
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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
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収録物識別子 |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
15320979 |
収録物識別子 |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA12538905 |
出版者 |
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出版者 |
Lippincott Williams and Wilkins |
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言語 |
en |
関連情報 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1097/PAS.0000000000000606 |
権利者情報 |
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権利者名 |
Lippincott Williams and Wilkins |
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言語 |
en |