Artículo de revista
Muir-Torre Syndrome: case report and molecular characterization
Fecha
2014Registro en:
Sao Paulo Med J. 2014; 132(1):61-4
DOI: 10.1590/1516-3180.2014.1321634
Autor
Ríos del Prado, Carolina Alejandra
Villalón, Ricardo
Muñoz, Jorge
Acuña Patzke, Mónica
Cifuentes Ovalle, Lucía
Institución
Resumen
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.
CASE REPORT: 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.
CONCLUSION: 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.