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
兰州大学生命科学学院侯岁稳课题组通过对蛋白磷酸酶TOPPs家族的显性负效应突变体topp4J的深入研究,发现正常(22℃)培养条件下topp4-l中多种防御相关基因被激活,并出现细胞死亡及活性氧积累等免疫自激活表型;高温(28℃)条件下这些免疫...兰州大学生命科学学院侯岁稳课题组通过对蛋白磷酸酶TOPPs家族的显性负效应突变体topp4J的深入研究,发现正常(22℃)培养条件下topp4-l中多种防御相关基因被激活,并出现细胞死亡及活性氧积累等免疫自激活表型;高温(28℃)条件下这些免疫自激活表型可以被恢复。进一步研究发现,topp4-l中水杨酸积累,对丁香假单胞菌Pst DC 3000的抗病性增强。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.
文摘兰州大学生命科学学院侯岁稳课题组通过对蛋白磷酸酶TOPPs家族的显性负效应突变体topp4J的深入研究,发现正常(22℃)培养条件下topp4-l中多种防御相关基因被激活,并出现细胞死亡及活性氧积累等免疫自激活表型;高温(28℃)条件下这些免疫自激活表型可以被恢复。进一步研究发现,topp4-l中水杨酸积累,对丁香假单胞菌Pst DC 3000的抗病性增强。
