Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.

The Muir-Torre syndrome (MTS) is an autosomal-dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies. A subset of patients with MTS is considered a variant of the hereditary nonpolyposis colorectal carcinoma, which is caused by mutations in mismatch-repair genes. The objective of the current study was to evaluate whether a combined clinical, immunohistochemical, and biomolecular approach could be useful for the identification of Muir-Torre syndrome among patients with a diagnosis of sebaceous tumors and keratoacanthomas. The authors collected sebaceous skin lesions and keratoacanthomas recorded in the files of the Pathology Department of the University of Modena during the period 1986-2000. Through interviews and examination of clinical charts, family trees were drawn for 120 patients who were affected by these skin lesions. Seven patients also were affected by gastrointestinal tumors, thus meeting the clinical criteria for the diagnosis of MTS. In the MTS families, a wide phenotypic variability was evident, both in the spectrum of visceral tumors and in the type of skin lesions. Microsatellite instability was found in five MTS patients: These patients showed concordance with immunohistochemical analysis; moreover, a constitutional mutation in the MSH2 gene was found in 1 patient. Lack of expression of MSH2/MSH6 or MLH1 proteins was evident in the skin lesions and in the associated internal malignancies of 3 patients and 2 patients with MTS, respectively. The clinical, biomolecular, and immunohistochemical characterization of sebaceous skin lesions and keratoacanthomas may be used as screening for the identification of families at risk of MTS, a disease that is difficult to recognize and diagnose.

Ponti G ，Losi L ，Di Gregorio C ，Roncucci L ，Pedroni M ，Scarselli A ，Benatti P ，Seidenari S ，Pellacani G ，Lembo L ，Rossi G ，Marino M ，Lucci-Cordisco E ，Ponz de Leon M ... -  《CANCER》

Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families.

Ponti G ，Ponz de Leon M ，Losi L ，Di Gregorio C ，Benatti P ，Pedroni M ，Scarselli A ，Riegler G ，Lembo L ，Pellacani G ，Seidenari S ，Rossi G ，Roncucci L ... -  《BRITISH JOURNAL OF DERMATOLOGY》

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.

Ponti G ，Losi L ，Pedroni M ，Lucci-Cordisco E ，Di Gregorio C ，Pellacani G ，Seidenari S ... -  《JOURNAL OF INVESTIGATIVE DERMATOLOGY》

[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].

Doré MX ，Dieumegard B ，Grandjouan S ，Avril MF ，Martinet C ，Ducreux M ，Lasser P ，Bressac-de Paillerets B ... -  《ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE》

[Clinical follow-up and presence of visceral tumors in 12 patients with sebaceous gland tumors].

Mercader P ，García-Melgares ML ，Roche E ，Sánchez-Carazo JL ，Alegre-de Miquel V ... -  《-》