Muir-Torre Syndrome diagnostic and screening. a single center experience

Date 29 June 2016
Event ESMO World Congress on Gastrointestinal Cancer 2016
Session ESMO World Congress on Gastrointestinal Cancer 2016 - Abstracts book
Presenter R. Macías
Citation Annals of Oncology (2016) 27 (2): 1-85. 10.1093/annonc/mdw199
Authors R. Macías1, E. Inga2, R. Rodriguez1, A. Conde1, E. Vergara1, I. Arrobas Maria1, R. Rodriguez José1
  • 1Complejo Hospitalario Universitario de Badajoz, Badajoz, Spain, /
  • 2Hospital Universitario Infanta Cristina, Badajoz, Spain, /


Muir-Torre syndrome (MTS) is a rare genetic condition that predisposes individuals to skin tumors and visceral malignancies. Because of the potentially aggressive nature of internal malignancies and sebaceous carcinoma, and the tendency to have multiple low-grade visceral cancers, close cancer surveillance is required in individuals and their families with this usually autosomal dominant disorder. Although the majority of MTS is caused by mutations in DNA mismatch repair genes resulting in microsatellite instability, a newly described subtype of MTS does not demonstrate microsatellite instability and may be inherited in an autosomal recessive pattern. Neoplasms may be subject to immunohistochemistry or both immunohistochemistry and genetic testing to confirm the diagnosis of MTS. Here, we offer an update and an approach to the diagnosis and management of MTS with a particular emphasis on the role of immunohistochemistry and genetic testing. Currently, it is believed that there are two types of MTS. The variant of Hereditary Nonpolyposis Colorectal Cancer or Lynch Syndrome, associated with germline mutations in DNA repair genes encoders of proteins, and the other spectrum of the disease, however, has no correlation with family history and seems to involve other genes than the DNA repairing ones.