Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma
Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused...
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doaj-3f981af62aa345e3abaa4fac683a976b2020-11-24T23:51:05ZengKarger PublishersCase Reports in Oncology1662-65752016-02-0191959910.1159/000443788443788Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal AdenocarcinomaSunil TulpuleHiyam IbrahimMohamed OsmanShoaib ZafarRomana KantaGregory ShypulaMohammed A. IslamShuvendu SenAbdalla YousifMuir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.http://www.karger.com/Article/FullText/443788Sebaceous carcinomaMuir-Torre syndromeHereditary nonpolyposis colon cancerMSH6 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sunil Tulpule Hiyam Ibrahim Mohamed Osman Shoaib Zafar Romana Kanta Gregory Shypula Mohammed A. Islam Shuvendu Sen Abdalla Yousif |
spellingShingle |
Sunil Tulpule Hiyam Ibrahim Mohamed Osman Shoaib Zafar Romana Kanta Gregory Shypula Mohammed A. Islam Shuvendu Sen Abdalla Yousif Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma Case Reports in Oncology Sebaceous carcinoma Muir-Torre syndrome Hereditary nonpolyposis colon cancer MSH6 |
author_facet |
Sunil Tulpule Hiyam Ibrahim Mohamed Osman Shoaib Zafar Romana Kanta Gregory Shypula Mohammed A. Islam Shuvendu Sen Abdalla Yousif |
author_sort |
Sunil Tulpule |
title |
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma |
title_short |
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma |
title_full |
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma |
title_fullStr |
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma |
title_full_unstemmed |
Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma |
title_sort |
muir-torre syndrome presenting as sebaceous adenocarcinoma and invasive msh6-positive colorectal adenocarcinoma |
publisher |
Karger Publishers |
series |
Case Reports in Oncology |
issn |
1662-6575 |
publishDate |
2016-02-01 |
description |
Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy. |
topic |
Sebaceous carcinoma Muir-Torre syndrome Hereditary nonpolyposis colon cancer MSH6 |
url |
http://www.karger.com/Article/FullText/443788 |
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