Cutaneous Squamous Cell Carcinoma in Lynch Syndrome — An Overlooked Association

Abstract

Lynch syndrome is an autosomal dominant disorder caused by germline mutation affecting mismatch-repair genes. Genetic testing is performed selectively. Diagnosed individuals are to undergo surveillance to detect and manage Lynch syndrome-related cancers early in the course. Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by sebaceous neoplasms, keratoacanthoma, or both in addition to other Lynch syndrome-related cancers. Other neoplasms of the skin, such as squamous cell carcinoma, are not recognized as part of the Lynch syndrome tumor-spectrum. We report a case of cutaneous squamous cell carcinoma occurring in a patient with Lynch syndrome and explore some of the characteristic features and significance of this association.

Expanding the Spectrum of Skin Neoplasms in Muir–Torre Syndrome: Beyond Sebaceous Tumours

“…Reduced DNA mismatch repair (MMR) protein expression in keratinocytes have been related to the development of SCC and precancerous skin lesions in MTS-unrelated skin cancers. 5 However, our cases suggest that patients with MTS may be at increased risk of developing AK and SCC. These lesions are not typically associated with MTS and may be overlooked during dermatologic evaluations.…”

Recent advances in Lynch syndrome

“…Muir-Torre syndrome is a phenotypic variant of Lynch syndrome that is characterized by the presence of skin sebaceous neoplasms and one or more visceral cancers. To date, many types of skin tumors have been reported in Lynch syndrome, including sebaceous carcinoma, keratoacanthoma, sebaceous adenoma, sebaceous epithelioma and cutaneous squamous cell carcinoma [ 34 ].…”