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Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report

BACKGROUND: Lynch syndrome is the most common form of hereditary colorectal carcinoma. It is characterized by the presence of germline mutations in DNA mismatch repair genes. Mutation carriers have a lifetime risk of developing colorectal carcinoma of approximately 80%. Current treatment guidelines...

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Autores principales: Utsumi, Masashi, Tanakaya, Kohji, Mushiake, Yutaka, Kunitomo, Tomoyoshi, Yasuhara, Isao, Taniguchi, Fumitaka, Arata, Takashi, Katsuda, Koh, Aoki, Hideki, Takeuchi, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540342/
https://www.ncbi.nlm.nih.gov/pubmed/28764791
http://dx.doi.org/10.1186/s12957-017-1207-3
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author Utsumi, Masashi
Tanakaya, Kohji
Mushiake, Yutaka
Kunitomo, Tomoyoshi
Yasuhara, Isao
Taniguchi, Fumitaka
Arata, Takashi
Katsuda, Koh
Aoki, Hideki
Takeuchi, Hitoshi
author_facet Utsumi, Masashi
Tanakaya, Kohji
Mushiake, Yutaka
Kunitomo, Tomoyoshi
Yasuhara, Isao
Taniguchi, Fumitaka
Arata, Takashi
Katsuda, Koh
Aoki, Hideki
Takeuchi, Hitoshi
author_sort Utsumi, Masashi
collection PubMed
description BACKGROUND: Lynch syndrome is the most common form of hereditary colorectal carcinoma. It is characterized by the presence of germline mutations in DNA mismatch repair genes. Mutation carriers have a lifetime risk of developing colorectal carcinoma of approximately 80%. Current treatment guidelines recommend periodic surveillance for colorectal carcinoma in patients with Lynch syndrome. However, the optimal interval between colonoscopies has not yet been determined. CASE PRESENTATION: We describe a 54-year-old man with Lynch syndrome who was undergoing annual colonoscopy surveillance for the development of colorectal carcinoma. At 54, 57, 59, and 60 years old, a colonoscopy showed high-grade dysplasia and adenoma. Therefore, endoscopic mucosal resection was performed. At 61 years old, a colonoscopy showed metachronous colorectal carcinoma with massive submucosal invasion. He subsequently underwent laparotomy for colorectal carcinoma. CONCLUSIONS: Annual surveillance using colonoscopy can detect colorectal carcinoma at an early stage, leading to reduced mortality. However, some patients might require a laparotomy, as was the case here. More frequent colonoscopic surveillance might be necessary to avoid surgery for colorectal carcinoma in Lynch syndrome patients with multiple risk factors for interval cancer.
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spelling pubmed-55403422017-08-03 Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report Utsumi, Masashi Tanakaya, Kohji Mushiake, Yutaka Kunitomo, Tomoyoshi Yasuhara, Isao Taniguchi, Fumitaka Arata, Takashi Katsuda, Koh Aoki, Hideki Takeuchi, Hitoshi World J Surg Oncol Case Report BACKGROUND: Lynch syndrome is the most common form of hereditary colorectal carcinoma. It is characterized by the presence of germline mutations in DNA mismatch repair genes. Mutation carriers have a lifetime risk of developing colorectal carcinoma of approximately 80%. Current treatment guidelines recommend periodic surveillance for colorectal carcinoma in patients with Lynch syndrome. However, the optimal interval between colonoscopies has not yet been determined. CASE PRESENTATION: We describe a 54-year-old man with Lynch syndrome who was undergoing annual colonoscopy surveillance for the development of colorectal carcinoma. At 54, 57, 59, and 60 years old, a colonoscopy showed high-grade dysplasia and adenoma. Therefore, endoscopic mucosal resection was performed. At 61 years old, a colonoscopy showed metachronous colorectal carcinoma with massive submucosal invasion. He subsequently underwent laparotomy for colorectal carcinoma. CONCLUSIONS: Annual surveillance using colonoscopy can detect colorectal carcinoma at an early stage, leading to reduced mortality. However, some patients might require a laparotomy, as was the case here. More frequent colonoscopic surveillance might be necessary to avoid surgery for colorectal carcinoma in Lynch syndrome patients with multiple risk factors for interval cancer. BioMed Central 2017-08-01 /pmc/articles/PMC5540342/ /pubmed/28764791 http://dx.doi.org/10.1186/s12957-017-1207-3 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Utsumi, Masashi
Tanakaya, Kohji
Mushiake, Yutaka
Kunitomo, Tomoyoshi
Yasuhara, Isao
Taniguchi, Fumitaka
Arata, Takashi
Katsuda, Koh
Aoki, Hideki
Takeuchi, Hitoshi
Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report
title Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report
title_full Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report
title_fullStr Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report
title_full_unstemmed Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report
title_short Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report
title_sort metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a lynch syndrome patient: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540342/
https://www.ncbi.nlm.nih.gov/pubmed/28764791
http://dx.doi.org/10.1186/s12957-017-1207-3
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