{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T13:59:53Z","timestamp":1791640793033,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,1,20]],"date-time":"2005-01-20T00:00:00Z","timestamp":1106179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>The Muir\u2013Torre syndrome (MTS) is an autosomal\u2010dominant 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\u2010repair 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\u2013Torre syndrome among patients with a diagnosis of sebaceous tumors and keratoacanthomas.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>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\u20132000. Through interviews and examination of clinical charts, family trees were drawn for 120 patients who were affected by these skin lesions.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>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 <jats:italic>MSH2<\/jats:italic> gene was found in 1 patient. Lack of expression of <jats:italic>MSH2<\/jats:italic>\/MSH6 or <jats:italic>MLH1<\/jats:italic> proteins was evident in the skin lesions and in the associated internal malignancies of 3 patients and 2 patients with MTS, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>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. Cancer 2005. \u00a9 2005 American Cancer Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.20873","type":"journal-article","created":{"date-parts":[[2005,1,20]],"date-time":"2005-01-20T11:17:33Z","timestamp":1106219853000},"page":"1018-1025","source":"Crossref","is-referenced-by-count":128,"title":["Identification of Muir\u2013Torre syndrome among patients with sebaceous tumors and keratoacanthomas"],"prefix":"10.1002","volume":"103","author":[{"given":"Giovanni","family":"Ponti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Losi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Di 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