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肝母细胞瘤中p53基因突变缺失及p53蛋白过表达少见。

Absence of p53 gene mutation and infrequent overexpression of p53 protein in hepatoblastoma.

作者信息

Chen T C, Hsieh L L, Kuo T T

机构信息

Department of Pathology, Chang Gung College of Medicine and Technology, Kwei San, Tao Yuan, Taiwan.

出版信息

J Pathol. 1995 Jul;176(3):243-7. doi: 10.1002/path.1711760306.

Abstract

Ten cases of hepatoblastoma were studied for overexpression of p53 protein by immunohistochemistry and for possible p53 gene mutation by single strand conformation polymorphism (SSCP) analysis and direct DNA sequencing of the polymerase chain reaction products. Only one case of the macrotrabecular type at stage IV showed overexpression of p53 protein. No DNA mobility shift was found in any of these cases studied by SSCP analysis. DNA sequencing performed on the case showing overexpression of p53 protein revealed no mutation within exons 5 to 8. The associated adrenal cortical carcinoma of the same case also showed overexpression of p53 protein, but no mutation of the p53 gene. These results indicate that mutation of the p53 gene is infrequent in hepatoblastoma. This observation supports the view that mutation of the p53 gene is not as important in the oncogenesis of childhood neoplasms as in adult cancers.

摘要

通过免疫组织化学研究了10例肝母细胞瘤中p53蛋白的过表达情况,并通过单链构象多态性(SSCP)分析和聚合酶链反应产物的直接DNA测序研究了可能的p53基因突变。仅1例IV期大小梁型病例显示p53蛋白过表达。通过SSCP分析研究的这些病例中均未发现DNA迁移率改变。对显示p53蛋白过表达的病例进行DNA测序,结果显示外显子5至8内无突变。同一病例的相关肾上腺皮质癌也显示p53蛋白过表达,但p53基因无突变。这些结果表明,p53基因在肝母细胞瘤中很少发生突变。这一观察结果支持了以下观点:p53基因的突变在儿童肿瘤的发生过程中不如在成人癌症中重要。

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