Muir–Torre syndrome

Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome:663 that is thought to be a subtype of HNPCC. Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors. The genes affected are MLH1, MSH2, and more recently, MSH6, and are involved in DNA mismatch repair. Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome:663 that is thought to be a subtype of HNPCC. Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors. The genes affected are MLH1, MSH2, and more recently, MSH6, and are involved in DNA mismatch repair. Muir–Torre syndrome is characterized by both: The Amsterdam criteria are frequently used to diagnose Lynch syndrome and Muir–Torre syndrome. They include the following: Muir–Torre syndrome is a genetic condition. Mutations in MLH1 and MSH2 are linked with the disease. These genes code for DNA mismatch repair genes, and mutations increase the risk of developing cancerous qualities. Many patients who have sebaceous neoplasms with mutations in MSH2 and MLH1 do not in fact have Muir–Torre syndrome. The Mayo Muir–Torre risk score was devised to improve the positive predictive value of immunohistochemistry and reduce the false positive rate. The Mayo Muir–Torre Risk score assigns points based several characteristics. A score of 2 or greater has a high positive predictive value of Muir–Torre syndrome. A score of 1 or lower is less likely to be Muir–Torre syndrome.