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Giovanni Ponti - One of the best experts on this subject based on the ideXlab platform.
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value of mlh1 and msh2 mutations in the appearance of muir torre syndrome phenotype in hnpcc patients presenting sebaceous gland tumors or Keratoacanthomas
Journal of Investigative Dermatology, 2006Co-Authors: Giovanni Ponti, Giovanni Pellacani, Monica Pedroni, Lorena Losi, C Di Gregorio, Emanuela Luccicordisco, Stefania SeidenariAbstract:Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal-dominant disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A main clinical variant of Lynch syndrome, Muir–Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or Keratoacanthoma. In our study, we have screened a cohort of 538 HNPCC patients, related to 57 HNPCC families, to detect sebaceous skin tumors and Keratoacanthomas and the role of mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, in their pathogenesis. Among the 57 HNPCC families, we have identified four MTS families and one suspected MTS family, in which sebaceous carcinoma was found in one HNPCC mutation carrier subject who did not show visceral malignancy. In four of these families, linked to two MLH1 mutations and to two MSH2 mutations, biomolecular characterization showed concordance among immunohistochemistry analysis and gene mutations. The evidences of our investigations show that MLH1 and MSH2 gene mutations have an equivalent etiopathological role both for Lynch syndrome and for MTS; hence, we propose a broadened clinical criteria for definition of Lynch syndrome that will include sebaceous adenoma, carcinoma, and Keratoacanthoma.
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muir torre syndrome
Lancet Oncology, 2005Co-Authors: Giovanni Ponti, Maurizio Ponz De LeonAbstract:Muir-Torre syndrome is an autosomal-dominant skin condition of genetic origin, characterised by tumours of the sebaceous gland or Keratoacanthoma that are associated with visceral malignant diseases. The cutaneous characteristics of Muir-Torre syndrome are sebaceous adenoma, epithelioma, carcinoma, or multiple Keratoacanthomas, whereas visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal tumours. Although Muir-Torre syndrome has a striking familial association and features of autosomal-dominant transmission, it can arise in individuals without a family history or any known mutations. Clinical and biomolecular evidence has suggested that there are two types of Muir-Torre syndrome. The most common is a variant of hereditary non-polyposis colorectal cancer, which is characterised by defects in mismatch repair genes and early-onset tumours. The second type does not show deficiency in mismatch repair and its pathogenesis remains undefined. Diagnosis of these rare sebaceous lesions warrants the search for associated internal malignant diseases: the peculiarity of skin lesions and their biomolecular characterisation with microsatellite instability analysis and immunohistochemistry could be used to identify familial Muir-Torre syndrome, allowing clinicians to tailor a personalised programme to screen for skin and visceral malignant diseases in high-risk individuals.
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different phenotypes in muir torre syndrome clinical and biomolecular characterization in two italian families
British Journal of Dermatology, 2005Co-Authors: Giovanni Ponti, Ponz M De Leon, Monica Pedroni, Lorena Losi, C Di Gregorio, A Scarselli, Piero Benatti, G Riegler, L Lembo, Giovanni PellacaniAbstract: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.
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identification of muir torre syndrome among patients with sebaceous tumors and Keratoacanthomas role of clinical features microsatellite instability and immunohistochemistry
Cancer, 2005Co-Authors: Giovanni Ponti, Giovanni Pellacani, Monica Pedroni, Lorena Losi, C Di Gregorio, A Scarselli, Piero Benatti, Luca Roncucci, Stefania Seidenari, L LemboAbstract:BACKGROUND 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. METHODS 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. RESULTS 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. CONCLUSIONS 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. © 2005 American Cancer Society.
D J Hauben - One of the best experts on this subject based on the ideXlab platform.
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synchronous appearance of Keratoacanthomas in burn scar and skin graft donor site shortly after injury
Journal of The American Academy of Dermatology, 1999Co-Authors: Gabriel Tamir, Sara Morgenstern, Dan Benamitay, Eli Okon, D J HaubenAbstract:Skin malignancies can originate in burn scars (Marjolin's ulcer). The most common is squamous cell carcinoma, usually appearing years after injury. Split-thickness skin graft donor sites as a source of malignant transformation are far less frequent and demonstrate a shorter interval between surgery and tumor onset. Keratoacanthomas have rarely been reported to arise in such scars. We describe the simultaneous occurrence of Keratoacanthomas on a spontaneously healed second-degree burn on the flank and in the scar of a skin graft donor site on the thigh, 4 months after a 40% total body surface area burn.
Giovanni Pellacani - One of the best experts on this subject based on the ideXlab platform.
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value of mlh1 and msh2 mutations in the appearance of muir torre syndrome phenotype in hnpcc patients presenting sebaceous gland tumors or Keratoacanthomas
Journal of Investigative Dermatology, 2006Co-Authors: Giovanni Ponti, Giovanni Pellacani, Monica Pedroni, Lorena Losi, C Di Gregorio, Emanuela Luccicordisco, Stefania SeidenariAbstract:Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal-dominant disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A main clinical variant of Lynch syndrome, Muir–Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or Keratoacanthoma. In our study, we have screened a cohort of 538 HNPCC patients, related to 57 HNPCC families, to detect sebaceous skin tumors and Keratoacanthomas and the role of mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, in their pathogenesis. Among the 57 HNPCC families, we have identified four MTS families and one suspected MTS family, in which sebaceous carcinoma was found in one HNPCC mutation carrier subject who did not show visceral malignancy. In four of these families, linked to two MLH1 mutations and to two MSH2 mutations, biomolecular characterization showed concordance among immunohistochemistry analysis and gene mutations. The evidences of our investigations show that MLH1 and MSH2 gene mutations have an equivalent etiopathological role both for Lynch syndrome and for MTS; hence, we propose a broadened clinical criteria for definition of Lynch syndrome that will include sebaceous adenoma, carcinoma, and Keratoacanthoma.
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different phenotypes in muir torre syndrome clinical and biomolecular characterization in two italian families
British Journal of Dermatology, 2005Co-Authors: Giovanni Ponti, Ponz M De Leon, Monica Pedroni, Lorena Losi, C Di Gregorio, A Scarselli, Piero Benatti, G Riegler, L Lembo, Giovanni PellacaniAbstract: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.
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identification of muir torre syndrome among patients with sebaceous tumors and Keratoacanthomas role of clinical features microsatellite instability and immunohistochemistry
Cancer, 2005Co-Authors: Giovanni Ponti, Giovanni Pellacani, Monica Pedroni, Lorena Losi, C Di Gregorio, A Scarselli, Piero Benatti, Luca Roncucci, Stefania Seidenari, L LemboAbstract:BACKGROUND 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. METHODS 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. RESULTS 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. CONCLUSIONS 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. © 2005 American Cancer Society.
Gabriel Tamir - One of the best experts on this subject based on the ideXlab platform.
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synchronous appearance of Keratoacanthomas in burn scar and skin graft donor site shortly after injury
Journal of The American Academy of Dermatology, 1999Co-Authors: Gabriel Tamir, Sara Morgenstern, Dan Benamitay, Eli Okon, D J HaubenAbstract:Skin malignancies can originate in burn scars (Marjolin's ulcer). The most common is squamous cell carcinoma, usually appearing years after injury. Split-thickness skin graft donor sites as a source of malignant transformation are far less frequent and demonstrate a shorter interval between surgery and tumor onset. Keratoacanthomas have rarely been reported to arise in such scars. We describe the simultaneous occurrence of Keratoacanthomas on a spontaneously healed second-degree burn on the flank and in the scar of a skin graft donor site on the thigh, 4 months after a 40% total body surface area burn.
Stefania Seidenari - One of the best experts on this subject based on the ideXlab platform.
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value of mlh1 and msh2 mutations in the appearance of muir torre syndrome phenotype in hnpcc patients presenting sebaceous gland tumors or Keratoacanthomas
Journal of Investigative Dermatology, 2006Co-Authors: Giovanni Ponti, Giovanni Pellacani, Monica Pedroni, Lorena Losi, C Di Gregorio, Emanuela Luccicordisco, Stefania SeidenariAbstract:Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal-dominant disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A main clinical variant of Lynch syndrome, Muir–Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or Keratoacanthoma. In our study, we have screened a cohort of 538 HNPCC patients, related to 57 HNPCC families, to detect sebaceous skin tumors and Keratoacanthomas and the role of mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, in their pathogenesis. Among the 57 HNPCC families, we have identified four MTS families and one suspected MTS family, in which sebaceous carcinoma was found in one HNPCC mutation carrier subject who did not show visceral malignancy. In four of these families, linked to two MLH1 mutations and to two MSH2 mutations, biomolecular characterization showed concordance among immunohistochemistry analysis and gene mutations. The evidences of our investigations show that MLH1 and MSH2 gene mutations have an equivalent etiopathological role both for Lynch syndrome and for MTS; hence, we propose a broadened clinical criteria for definition of Lynch syndrome that will include sebaceous adenoma, carcinoma, and Keratoacanthoma.
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identification of muir torre syndrome among patients with sebaceous tumors and Keratoacanthomas role of clinical features microsatellite instability and immunohistochemistry
Cancer, 2005Co-Authors: Giovanni Ponti, Giovanni Pellacani, Monica Pedroni, Lorena Losi, C Di Gregorio, A Scarselli, Piero Benatti, Luca Roncucci, Stefania Seidenari, L LemboAbstract:BACKGROUND 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. METHODS 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. RESULTS 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. CONCLUSIONS 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. © 2005 American Cancer Society.
