Pyloric Gland Adenoma in Lynch Syndrome

The prevalence of gastric cancer associated with Lynch syndrome (LS) is highly variable, and the underlying histologic pathway or molecular mechanisms remain unclear. From 1995 to 2012, 15 patients had been treated for both gastric and colonic adenocarcinomas and diagnosed as LS. In all cases, patho...

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Main Authors: Lee, Seung Eun, Kang, So Young, Cho, Junhun, Lee, Boram, Chang, Dong Kyung, Woo, Hyein, Kim, Jong Won, Park, Ha Young, Do, In Gu, Kim, Young Eun, Kushima, Ryoji, Lauwers, Gregory Y., Park, Cheol Keun, Kim, Kyoung M.
Format: Online
Language:English
Published: Raven Press 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014525/
id pubmed-4014525
recordtype oai_dc
spelling pubmed-40145252014-05-09 Pyloric Gland Adenoma in Lynch Syndrome Lee, Seung Eun Kang, So Young Cho, Junhun Lee, Boram Chang, Dong Kyung Woo, Hyein Kim, Jong Won Park, Ha Young Do, In Gu Kim, Young Eun Kushima, Ryoji Lauwers, Gregory Y. Park, Cheol Keun Kim, Kyoung M. Original Articles The prevalence of gastric cancer associated with Lynch syndrome (LS) is highly variable, and the underlying histologic pathway or molecular mechanisms remain unclear. From 1995 to 2012, 15 patients had been treated for both gastric and colonic adenocarcinomas and diagnosed as LS. In all cases, pathologic review, immunohistochemical analysis for mismatch-repair proteins, and microsatellite instability (MSI) tests were performed. To confirm LS, germline mutation tests and multiplex ligation-dependent probe amplification were performed. All gastric and colonic carcinomas were MSI-high and lost expressions of MLH1/PMS2 in 11 (73%) cases and MSH2/MSH6 in 4 (27%) cases. Remarkably, in a patient with LS and germline mutation of MLH1 gene, pyloric gland adenoma (PGA) transformed to adenocarcinoma during follow-up. In 2 additional cases, PGA was found adjacent to advanced gastric cancers. All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins. On the basis of these observations, although very rare, we suggest the possibility that PGA may be a precursor lesion to gastric adenocarcinoma in LS and that the mismatch-repair deficient pathway of carcinogenesis is involved early in the gastric carcinogenesis pathway. Raven Press 2014-06 2014-05-13 /pmc/articles/PMC4014525/ /pubmed/24518125 http://dx.doi.org/10.1097/PAS.0000000000000185 Text en Copyright © 2014 by Lippincott Williams & Wilkins http://creativecommons.org/licenses/by-nc-nd/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivitives 3.0 License, where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Lee, Seung Eun
Kang, So Young
Cho, Junhun
Lee, Boram
Chang, Dong Kyung
Woo, Hyein
Kim, Jong Won
Park, Ha Young
Do, In Gu
Kim, Young Eun
Kushima, Ryoji
Lauwers, Gregory Y.
Park, Cheol Keun
Kim, Kyoung M.
spellingShingle Lee, Seung Eun
Kang, So Young
Cho, Junhun
Lee, Boram
Chang, Dong Kyung
Woo, Hyein
Kim, Jong Won
Park, Ha Young
Do, In Gu
Kim, Young Eun
Kushima, Ryoji
Lauwers, Gregory Y.
Park, Cheol Keun
Kim, Kyoung M.
Pyloric Gland Adenoma in Lynch Syndrome
author_facet Lee, Seung Eun
Kang, So Young
Cho, Junhun
Lee, Boram
Chang, Dong Kyung
Woo, Hyein
Kim, Jong Won
Park, Ha Young
Do, In Gu
Kim, Young Eun
Kushima, Ryoji
Lauwers, Gregory Y.
Park, Cheol Keun
Kim, Kyoung M.
author_sort Lee, Seung Eun
title Pyloric Gland Adenoma in Lynch Syndrome
title_short Pyloric Gland Adenoma in Lynch Syndrome
title_full Pyloric Gland Adenoma in Lynch Syndrome
title_fullStr Pyloric Gland Adenoma in Lynch Syndrome
title_full_unstemmed Pyloric Gland Adenoma in Lynch Syndrome
title_sort pyloric gland adenoma in lynch syndrome
description The prevalence of gastric cancer associated with Lynch syndrome (LS) is highly variable, and the underlying histologic pathway or molecular mechanisms remain unclear. From 1995 to 2012, 15 patients had been treated for both gastric and colonic adenocarcinomas and diagnosed as LS. In all cases, pathologic review, immunohistochemical analysis for mismatch-repair proteins, and microsatellite instability (MSI) tests were performed. To confirm LS, germline mutation tests and multiplex ligation-dependent probe amplification were performed. All gastric and colonic carcinomas were MSI-high and lost expressions of MLH1/PMS2 in 11 (73%) cases and MSH2/MSH6 in 4 (27%) cases. Remarkably, in a patient with LS and germline mutation of MLH1 gene, pyloric gland adenoma (PGA) transformed to adenocarcinoma during follow-up. In 2 additional cases, PGA was found adjacent to advanced gastric cancers. All PGAs in LS patients were MSI-high and lost expression of mismatch-repair proteins (MLH1/PMS2 in 2 cases and MSH2/MSH6 in 1 case), whereas none of the 14 sporadic PGAs was MSI-high or had lost expression of mismatch-repair proteins. On the basis of these observations, although very rare, we suggest the possibility that PGA may be a precursor lesion to gastric adenocarcinoma in LS and that the mismatch-repair deficient pathway of carcinogenesis is involved early in the gastric carcinogenesis pathway.
publisher Raven Press
publishDate 2014
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014525/
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