Key teaching points
• Muir-Torre Syndrome (MTS) is an autosomal dominant cancer syndrome that results from a mutation in mismatch repair genes. It is characterized by sebaceous neoplasms, keratoacanthomas, and visceral neoplasm(s) affecting the colon, uterus, ovaries, bladder, or other organs.
• Mismatch repair immunohistochemistry and microsatellite instability testing of sebaceous neoplasms are available to confirm a diagnosis of MTS.
• Early recognition of cutaneous features of MTS could lead to early diagnosis and prevention of advanced neoplasms in patients and family members.Le texte complet de cet article est disponible en PDF.
Key words : colon cancer, endometrial cancer, hereditary cancer, Lynch syndrome, microsatellite instability, mismatch repair, MutS homolog 2, MutS homolog 6, sebaceous epithelioma, sebaceous neoplasm, urothelial cancer
Abbreviations used : BerEP4, CK, EMA, MMR, MSH2, MSI, MTS, TTF
| This research was supported by the Intramural Program of National Institutes of Health (NIH), Center for Cancer Research, National Cancer Institute, and the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the National Institutes of Health and generous contributions to the Foundation for the NIH from Pfizer Inc, the Doris Duke Charitable Foundation, the Alexandria Real Estate Equities Inc and Mr and Mrs Joel S. Marcus, and the Howard Hughes Medical Institute, as well as other private donors.
| Conflicts of interest: None declared.
| Reprints not available from the authors.