# Muir-Torre Syndrome: A Case Report and a Literature Review of Genetic Insights and Cancer Surveillance

## TL;DR

This paper reports a case of Muir-Torre Syndrome, a rare genetic disorder linked to skin and internal cancers, and emphasizes the importance of genetic testing and cancer surveillance.

## Contribution

The novelty lies in the detailed case report and literature review highlighting genetic insights and management strategies for Muir-Torre Syndrome.

## Key findings

- A 57-year-old patient with Muir-Torre Syndrome had multiple sebaceous carcinomas and urothelial carcinoma confirmed by a pathogenic MSH2 mutation.
- The case highlights the importance of genetic testing and multidisciplinary management in Muir-Torre Syndrome.
- Routine cancer surveillance and preventive surgeries are recommended for managing this syndrome.

## Abstract

Muir-Torre syndrome (MTS) is a rare autosomal dominant genetic disorder that manifests through the co-occurrence of sebaceous skin tumors and internal malignancies, primarily due to mutations in mismatch repair (MMR) genes such as MSH2, MLH1, and MSH6. This paper presents a detailed case report of a 57-year-old female diagnosed with MTS, highlighting her extensive medical history and the critical role of genetic testing and multidisciplinary management. The patient’s dermatological and oncological assessments revealed multiple sebaceous carcinomas and recurrent urothelial carcinoma, confirmed by a pathogenic MSH2 mutation. Through comprehensive preventive surgeries and rigorous follow-up, this case underscores the necessity of proactive cancer surveillance. The discussion integrates findings from key genetic studies and emphasizes the importance of immunohistochemistry in diagnosis. Recommendations for clinical practice include routine genetic testing, stringent surveillance, and multidisciplinary management, underscoring the need for ongoing research to understand better and manage this complex syndrome.