Muir–Torre Syndrome (MTS) is a rare, inherited condition that increases the risk of certain skin and internal cancers—most notably colorectal cancer. It is considered a variant of Lynch syndrome (hereditary nonpolyposis colorectal cancer or HNPCC), a genetic disorder that impairs the body’s ability to repair DNA.
What Causes MTS?
MTS is caused by mutations in the MLH1, MSH2, or MSH6 genes—critical players in the body’s DNA repair system. When these genes malfunction, cells can accumulate errors over time, leading to cancer.
Key Signs and Symptoms
Skin Manifestations:
- Sebaceous tumours: Benign or cancerous growths arising from the skin’s oil glands, often appearing on the face, scalp, or eyelids.
- Keratoacanthomas: Rapidly growing, dome-shaped skin nodules that resemble volcanoes. Though typically benign, they can mimic skin cancer.
Associated Internal Cancers:
- Colorectal cancer
- Endometrial (uterine) cancer
- Bladder cancer
- Stomach and small intestine cancers
How Is MTS Diagnosed?
Diagnosis is often prompted by a personal or family history of these cancers, especially in combination with unusual skin growths. Key tests include:
- Genetic testing for mutations in mismatch repair (MMR) genes
- Microsatellite instability (MSI) testing to detect DNA repair defects
- Immunohistochemistry (IHC) to evaluate the presence of MMR proteins in tumour tissue
Treatment and Management
1. Genetic Counseling
Patients and at-risk relatives should meet with a genetic counselor to understand their risks and options for prevention.
2. Regular Cancer Screening
Proactive surveillance greatly improves outcomes. This may include:
- Routine colonoscopies
- Transvaginal ultrasounds or endometrial biopsies
- Additional screenings based on individual risk
Outlook
While Muir–Torre Syndrome increases cancer risk, early detection and regular medical care can significantly improve quality of life and outcomes. Understanding your genetic profile allows you to take control of your health through preventative care and timely intervention.
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