MUIR-TORRE SYNDROME

Course overview

MUIR-TORRE SYNDROME IS AN AUTOSOMAL DOMINANT PHENOTYPIC VARIANT OF HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, WHICH IS ALSO KNOWN AS LYNCH SYNDROME. IT IS CAUSED BY MUTATIONS IN DNA MISMATCH REPAIR GENES WHICH RESULTS IN MICROSATELLITE INSTABILITY. THE HALLMARK FEATURES OF MUIR-TORRE SYNDROME ARE SEBACEOUS NEOPLASMS OF THE SKIN AND VISCERAL MALIGNANCIES WITH COLONIC CARCINOMA BEING THE MOST COMMON. THE ASSOCIATION OF MISMATCH REPAIR GENE MUTATIONS AND VISCERAL MALIGNANCIES WARRANTS EARLIER AND MORE FREQUENT SCREENING FOR MALIGNANCY. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, ETIOLOGY, AND PRESENTATION OF MUIR-TORRE SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT.