Muir-Torre syndrome: case report and molecular characterization.
BACKGROUND
Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis.


METHODS
We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation.


CONCLUSIONS
Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options.
Genetic Epidemiology Laboratory, Department of Human Genetics, School of Medicine, University of Chile, Santiago, Chile.
Carolina Alejandra
CA
Rios
Surgical Service, Complejo Asistencial Barros Luco Trudeau, Santiago, Chile, MD. Attending Physician, Surgical Service, Complejo Asistencial Barros Luco Trudeau, Santiago, Chile.
Ricardo
R
Villalón
Pathological Anatomy Service, Clínica Dávila, Santiago, Chile, BSc. Medical technologist, Pathological Anatomy Service, Clínica Dávila, Santiago, Chile.
Jorge
J
Muñoz
Department of Human Genetics, Institute of Biomedical Sciences, School of Medicine, University of Chile, Santiago, Chile, MSc. Associate Professor, Department of Human Genetics, Institute of Biomedical Sciences, School of Medicine, University of Chile, Santiago, Chile.
Mónica
M
Acuña
Department of Human Genetics, Institute of Biomedical Sciences, School of Medicine, University of Chile, Santiago, Chile, MD, MSc. Full Professor, Department of Human Genetics, Institute of Biomedical Sciences, School of Medicine, University of Chile, Santiago, Chile.
Lucía
L
Cifuentes
D000230:Adenocarcinoma / Q000175:diagnosis; D003106:Colon / Q000473:pathology; D003110:Colonic Neoplasms / Q000175:diagnosis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D053842:Microsatellite Instability; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D055653:Muir-Torre Syndrome / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011237:Predictive Value of Tests; D012307:Risk Factors; D017422:Sequence Analysis, DNA