Background/Aims: Hepatic undifferentiated (embryonal) sarcoma (HUS) is an exc eptional hepatic malignant tumor in adults. Genetic studies were never reported in adult cases. Methods: In this study concerning three cas...Background/Aims: Hepatic undifferentiated (embryonal) sarcoma (HUS) is an exc eptional hepatic malignant tumor in adults. Genetic studies were never reported in adult cases. Methods: In this study concerning three cases of HUS occurring i n adult, we studied the three classical ways of carcinogenesis i.e. the TP53 (p5 3), Wnt (CTNNB1/β - catenin and AXIN1) and telomerase (hTERT) pathways. We stu died the expression of p53, β - catenin and telomerase catalytic subunit hTERT by immunohistochemistry in the three cases; we determined TP53 gene mutation in two cases and the genome- wide allelotype, AXIN1, and CTNNB1/β - catenin gen e mutation in one case. Results: Immunohistochemistry showed an overexpression o f p53 in more than 80% of tumoral cells; furthermore, mutations of TP53 were o bserved in two cases, involving the sequence- specific DNA binding domain. In c ontrast, no mutation was found in CTNNB1/β - catenin and AXIN1 genes. Tumoral cells did not show hTERT staining nor nuclear expression of β - catenin. In ad dition, allelotype analysis in one case showed loss of heterozygosity of chromos ome 7p, 11p, 17p, 22q, and allelic imbalance of 1p, 8p, 20q. Conclusions: In thi s report of HUS in three adult patients, we emphasize the role of TP53 pathway i n carcinogenesis of this rare tumor. This point could be of interest for therape utic strategies.展开更多
Background: Pityriasis versicolor (tinea versicolor) is a common skin disorder due to Malassezia usually affecting adolescents and young adults,more frequently in the tropics. Facial involvement, isolated or not, is n...Background: Pityriasis versicolor (tinea versicolor) is a common skin disorder due to Malassezia usually affecting adolescents and young adults,more frequently in the tropics. Facial involvement, isolated or not, is not frequent in white adults. Objective: Here, we report a possible atypical hyperkeratotic form of dermatosis of the face, in two young immunocompetent Caucasian patients, particularly recalcitrant to therapy. Results: Skin scrapings grew yeasts belonging to the genus Malassezia, including both M. globosa and M. sympodialis. This unusual variant needs long-term therapy with systemic and topical imidazoles together with facial cleansing. Conclusion: We propose the name hyperkeratotic head and neck Malassezia dermatosis for this distinctive clinical entity. This variant of pityriasis versicolor should be considered in the differential diagnosis of seborrheic dermatitis and dermatitis neglecta.展开更多
文摘Background/Aims: Hepatic undifferentiated (embryonal) sarcoma (HUS) is an exc eptional hepatic malignant tumor in adults. Genetic studies were never reported in adult cases. Methods: In this study concerning three cases of HUS occurring i n adult, we studied the three classical ways of carcinogenesis i.e. the TP53 (p5 3), Wnt (CTNNB1/β - catenin and AXIN1) and telomerase (hTERT) pathways. We stu died the expression of p53, β - catenin and telomerase catalytic subunit hTERT by immunohistochemistry in the three cases; we determined TP53 gene mutation in two cases and the genome- wide allelotype, AXIN1, and CTNNB1/β - catenin gen e mutation in one case. Results: Immunohistochemistry showed an overexpression o f p53 in more than 80% of tumoral cells; furthermore, mutations of TP53 were o bserved in two cases, involving the sequence- specific DNA binding domain. In c ontrast, no mutation was found in CTNNB1/β - catenin and AXIN1 genes. Tumoral cells did not show hTERT staining nor nuclear expression of β - catenin. In ad dition, allelotype analysis in one case showed loss of heterozygosity of chromos ome 7p, 11p, 17p, 22q, and allelic imbalance of 1p, 8p, 20q. Conclusions: In thi s report of HUS in three adult patients, we emphasize the role of TP53 pathway i n carcinogenesis of this rare tumor. This point could be of interest for therape utic strategies.
文摘Background: Pityriasis versicolor (tinea versicolor) is a common skin disorder due to Malassezia usually affecting adolescents and young adults,more frequently in the tropics. Facial involvement, isolated or not, is not frequent in white adults. Objective: Here, we report a possible atypical hyperkeratotic form of dermatosis of the face, in two young immunocompetent Caucasian patients, particularly recalcitrant to therapy. Results: Skin scrapings grew yeasts belonging to the genus Malassezia, including both M. globosa and M. sympodialis. This unusual variant needs long-term therapy with systemic and topical imidazoles together with facial cleansing. Conclusion: We propose the name hyperkeratotic head and neck Malassezia dermatosis for this distinctive clinical entity. This variant of pityriasis versicolor should be considered in the differential diagnosis of seborrheic dermatitis and dermatitis neglecta.