Muir-Torre Syndrome: a Long Way to Diagnosis

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