What is Muir-Torre Syndrome?
Muir-Torre Syndrome (MTS) is a subtype of Lynch syndrome. It is an inherited condition that increases a person’s lifetime risk for developing rare types of skin cancer, gastrointestinal tract cancers (mostly colorectal cancer), and genitourinary tract cancers.
Like in Lynch syndrome, MTS is caused by an inherited harmful change (mutation) in one of the DNA mismatch repair (MMR) genes. The mutation is passed from one generation to the next, and in a family with a parent who has an inherited change in their DNA, each child has 50% of being diagnosed with MTS.
The MLH1 and MSH2 genes are most commonly mutated in MTS patients.
What are the symptoms of MTS?
The presence of specific types of skin or internal cancers are the primary symptom of MTS.
- Sebaceous adenoma is the most frequent symptom in people with MTS (80-99%).
- Sebaceous carcinoma of the eyelid is an aggressive cancer that spreads to the eye orbit and can be fatal.
- Additional skin cancers include sebaceous epitheliomas and keratoacanthomas.
- 30-79% of MTS patients have colon cancer or stomach cancer.
- 5-29% of MTS patients have endometrial or breast cancer.
- About 60% of people with MTS develop metastatic disease.