肝肿瘤家族性腺瘤息肉病抑癌基因外显子11的突变研究

目的 检测APC（家庭性腺瘤息肉病基因）抑癌基因在小儿肝脏肿瘤（hepatic turmors,HT）中的突变情况，并探讨APC抑癌基因的杂合性缺失及变化与HT生物学行为的关系。方法 采用聚合酶链反应-单链构象多态性（PCR-SSCP）、聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对HT患儿共36例及距肿瘤约10cm以外肝组织30例对照的APC抑癌基因的突变，进行了研究。结果 在肝母细胞瘤（hepatoblastoma,HB）患儿组中突变率为61.54%（8/13）；神经母细胞瘤（neuroblastoma,NB）患儿组为68.75%（11/16）；横纹肌肉瘤（rhabdomyosarcoma,RS）患儿组为57.14%（4/7）。实验结果表明，APC抑癌基因在HT中均有较高突变频率，三组比较差异无显著性，而正常组织无突变。结论 APC在HT中存在突变；它的突变至少参与了大部分HT的发生发展过程，可能涉及广谱人类肿瘤的发生；它的异常可能是恶性肿瘤发生较早的事件。

Mutation of tumor-suppressing gene APC at exon 11 in hepatic tumor

Objective To detect the mutation of a tumo r-suppressing gene APC (adenomatous polyposis coli, APC) in children with hepat ic tumor and to study the relationship between the loss of heterozygosity of APC and the biological trait of hepatic tumor. Methods Thirty six hep atic tum or tissues and 30 normal hepatic tissues were studied by PCR-SSCP and PCR-RFLP . Results The mutation of APC was detected in 8 hepatoblastoma (8/13 ) and in 15 other hepatic tumors (15/23). No mutation was found in normal tissues . Conclusions The mutation of APC was involved in hepatic tumo r and in the development of most hepatoblastoma. APC gene may play a role in multiple human tumors. The aberrance of APC may be the early event of malignant tumor.