Muir-Torre Syndrome: a long way to diagnosis
Publication Date : 20/02/2023
Muir Torre syndrome is a rare genetic syndrome, a subtype of Lynch syndrome. We present the case of a female patient with a rich family history and who, starting at the age of 41, successively presented with numerous benign and malignant tumours of various histologies, including some with sebaceous features. Most of the tumours were at the skin level, treated with complete resection, but frequently recurring. She underwent several surgical procedures and received both systemic oncological therapies and external beam radiotherapy for endocervical adenocarcinoma, vulvar carcinoma and urothelial carcinoma. Following an evolution of over 20 years, extensive genetic testing was performed and germline mutations in the MMR (mismatch repair) genes were identified. She was finally diagnosed with Muir Torre syndrome in the light of this unusual clinical presentation and molecular profile. Unfortunately, the outcome was unfavourable, with an inoperable recurrence of the bladder urothelial carcinoma and extensive lymph node dissemination of a vulvar squamous carcinoma, which were outside the therapeutic resources and ultimately led to death.
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