Muir-Torre Syndrome: a Long Way to Diagnosis

"Muir-Torre syndrome, a subtype of Lynch syndrome, is a rare genetic disorder. We present the case of a female patient with a long family and personal history who was diagnosed with numerous benign and malignant tumours of various histology, including some with sebaceous features, beginning at the age of 41. The majority were cutaneous tumours, treated with complete resection, but they frequently recurred. Visceral cancers included endocervical adenocarcinoma, vulvar squamous-cell carcinoma and urothelial carcinoma, treated surgically, followed by systemic oncological treatments and external beam radiotherapy. Following a 20-year evolution, extensive genetic blood testing revealed a pathogenic variant in the MSH2 gene, c.1861C>T (p.Arg621*), in heterozygous state. In light of this unusual clinical presentation and molecular profile, the patient was finally diagnosed with Muir-Torre syndrome. The prognosis was poor, with an inoperable recurrence of the urothelial carcinoma and extensive lymph node dissemination of a vulvar squamous cell carcinoma."