The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one member of a family with a 'peculiar' MTS phenotype without sebaceous lesions, but with only multiple keratoacanthomas, were analysed for microsatellite instability (MSI) and by immunohistochemistry. Tumours of both individuals showed MSI, with a concomitant lack of MSH2 immunostaining in all evaluated skin and visceral lesions; moreover, in the proband of family 2 a constitutional mutation (C -> T substitution leading to a stop codon) in the MSH2 gene was identified. We conclude that the diagnosis of MTS, which is mainly clinical, should take into account an ample phenotypic variability, which includes both cases with typical cancer aggregation in families and cases characterized by the association of visceral malignancies with multiple keratoacanthomas (without sebaceous lesions), without an apparent family history of cancer.

Different phenotypes in Muir-Torre Syndrome: clinical and biomolecular characterization in two italian families / Ponti, Giovanni; PONZ DE LEON, Maurizio; Losi, Lorena; C., Di Gregorio; Benatti, Piero; Pedroni, Monica; A., Scarselli; G., Riegler; L., Lembo; Pellacani, Giovanni; Seidenari, Stefania; Rossi, Giorgio; Roncucci, Luca. - In: BRITISH JOURNAL OF DERMATOLOGY. - ISSN 0007-0963. - STAMPA. - 152:6(2005), pp. 1335-1338. [10.1111/j.1365-2133.2005.06506.x]

Different phenotypes in Muir-Torre Syndrome: clinical and biomolecular characterization in two italian families

PONTI, Giovanni;PONZ DE LEON, Maurizio;LOSI, Lorena;BENATTI, Piero;PEDRONI, Monica;PELLACANI, Giovanni;SEIDENARI, Stefania;ROSSI, Giorgio;RONCUCCI, Luca
2005

Abstract

The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one member of a family with a 'peculiar' MTS phenotype without sebaceous lesions, but with only multiple keratoacanthomas, were analysed for microsatellite instability (MSI) and by immunohistochemistry. Tumours of both individuals showed MSI, with a concomitant lack of MSH2 immunostaining in all evaluated skin and visceral lesions; moreover, in the proband of family 2 a constitutional mutation (C -> T substitution leading to a stop codon) in the MSH2 gene was identified. We conclude that the diagnosis of MTS, which is mainly clinical, should take into account an ample phenotypic variability, which includes both cases with typical cancer aggregation in families and cases characterized by the association of visceral malignancies with multiple keratoacanthomas (without sebaceous lesions), without an apparent family history of cancer.
2005
152
6
1335
1338
Different phenotypes in Muir-Torre Syndrome: clinical and biomolecular characterization in two italian families / Ponti, Giovanni; PONZ DE LEON, Maurizio; Losi, Lorena; C., Di Gregorio; Benatti, Piero; Pedroni, Monica; A., Scarselli; G., Riegler; L., Lembo; Pellacani, Giovanni; Seidenari, Stefania; Rossi, Giorgio; Roncucci, Luca. - In: BRITISH JOURNAL OF DERMATOLOGY. - ISSN 0007-0963. - STAMPA. - 152:6(2005), pp. 1335-1338. [10.1111/j.1365-2133.2005.06506.x]
Ponti, Giovanni; PONZ DE LEON, Maurizio; Losi, Lorena; C., Di Gregorio; Benatti, Piero; Pedroni, Monica; A., Scarselli; G., Riegler; L., Lembo; Pellac...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/613253
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