抑癌基因PTEN在腮腺多形性腺瘤中的突变与缺失

Mutation and deletion of anti - oncogene PTEN in parotid pleomorphic adenoma

目的探讨抑癌基因PTEN在腮腺多形性腺瘤的发生、发展过程中的作用。方法应用聚合酶链反应(PCR)及克隆、基因测序的方法来分析腮腺多形性腺瘤及正常腺体组织中PTEN基因第5、第6及第8外显子有无突变及缺失。结果通过对PTEN基因三个外显子的克隆测序,发现有2例外显子8发生突变,其中一例引起编码的氨基酸发生变化。结论初步判断,在DNA水平抑癌基因PTEN在腮腺多形性腺瘤中存在突变,在其发生发展过程中可能起到一定的作用。

Objective To investigate the role of anti-oncogene PTEN in the tumorigenesis and development of parotid pleomorphic adenoma. Methods The mutations of exon 5, exon 6, and exon 8 of PTEN gene were detected by PCR, gene clone, and DNA sequencing analysis in parotid pleomorphic adenoma and normal gland tissue. Results Two cases showed mutations at exon 8 of PTEN gene after DNA sequencing analysis. One resulted in coding amino acid change. Conclusion Anti-oncogene PTEN at the DNA level plays different roles in the tumorigenesis and development of parotid pleomorphic adenoma.