[A Case of Lynch Syndrome with Muir-Torre Syndrome].

Muir-Torre syndrome(MTS)is a disease characterized by the simultaneous occurrence of sebaceous tumors and visceral malignant tumors. This syndrome is now considered to be a phenotypic variant of Lynch syndrome(LS). Our patient was a 58-year-old woman with a history of endometrioid adenocarcinoma of the uterine isthmus at the age of 40 years and left-sided triple negative breast cancer at the age of 44 years. At the age of 52 years, a multigene panel testing revealed a pathogenic variant in MSH2, and the patient was diagnosed with LS. During surveillance for LS in our department, a 2-mm sized intradermal nodule was found on the patient's left shoulder, at the age of 58 years. Histopathological examination of the resected intradermal nodule revealed a sebaceous adenoma. LS can present as MTS, and it is, therefore, important to conduct surveillance not only for visceral malignant tumors but also for skin tumors.

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PubMed
Published
2024-12-01
Primary Topic
Genetic factors in colorectal cancer
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article
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article

[A Case of Lynch Syndrome with Muir-Torre Syndrome].

Satoshi Hatano, Takehiro Shiraishi, Nobukazu SUGAWARA, Noriko Tanabe et al.
PubMed
Genetic factors in colorectal cancer
article

[A Case of Lynch Syndrome with Muir-Torre Syndrome].

Satoshi Hatano, Takehiro Shiraishi, Nobukazu SUGAWARA, Noriko Tanabe, Takatoshi Matsuyama, Noriyasu Chika, Aoi Sugino, Tomoo Fukuda, Yoshiko Mori, Hideyuki Ishida, Keiichiro Ishibashi, Tetsuya Ito, Yoichi Kumagai, Toru Ishiguro, Okihide Suzuki
article en

Abstract

Muir-Torre syndrome(MTS)is a disease characterized by the simultaneous occurrence of sebaceous tumors and visceral malignant tumors. This syndrome is now considered to be a phenotypic variant of Lynch syndrome(LS). Our patient was a 58-year-old woman with a history of endometrioid adenocarcinoma of the uterine isthmus at the age of 40 years and left-sided triple negative breast cancer at the age of 44 years. At the age of 52 years, a multigene panel testing revealed a pathogenic variant in MSH2, and the patient was diagnosed with LS. During surveillance for LS in our department, a 2-mm sized intradermal nodule was found on the patient's left shoulder, at the age of 58 years. Histopathological examination of the resected intradermal nodule revealed a sebaceous adenoma. LS can present as MTS, and it is, therefore, important to conduct surveillance not only for visceral malignant tumors but also for skin tumors.

PubMedVol. 51(13)
Saitama Medical University (JP)
Openalex Percentile: Top 59%
Genetic factors in colorectal cancer
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[A Case of Lynch Syndrome with Muir-Torre Syndrome]. — Satoshi Hatano, Takehiro Shiraishi, et al. · PubMed (2024) | TGRS Research Map | TGRS