[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.
Authors
- Satoshi Hatano
- Takehiro Shiraishi (ORCID: https://orcid.org/0000-0001-9150-2679)
- Nobukazu SUGAWARA
- Noriko Tanabe (ORCID: https://orcid.org/0000-0002-8240-007X)
- Takatoshi Matsuyama (ORCID: https://orcid.org/0000-0002-5937-2285)
- Noriyasu Chika
- Aoi Sugino
- Tomoo Fukuda
- Yoshiko Mori (ORCID: https://orcid.org/0000-0003-4948-8142)
- Hideyuki Ishida
- Keiichiro Ishibashi
- Tetsuya Ito (ORCID: https://orcid.org/0000-0002-1689-0963)
- Yoichi Kumagai
- Toru Ishiguro
- Okihide Suzuki
Institutions
- Saitama Medical University (JP)
Publication Details
- Journal
- PubMed
- Published
- 2024-12-01
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00