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目的探讨壮族人群大肠癌组织中PIK3CA基因第9、20外显子的突变率和PTEN表达及其相关性。方法采用PCR-SSCP法和MaxVison免疫组化法检测46例壮族人群大肠癌组织中PIK3CA基因第9、20外显子的突变率及PTEN的表达,分析它们与临床病理的关系,探讨PIK3CA突变和PTEN表达的相关性。结果壮族人群大肠癌组织中PIK3CA基因在第9、20外显子突变率为17.4%(第9外显子6.5%,第20外显子10.9%),高于正常大肠组织(P<0.05),PTEN阳性率为47.8%,低于正常大肠组织(P<0.01);PIK3CA突变与肿瘤临床病理无关(P>0.05),而PTEN表达与肿瘤临床病理密切相关(P<0.05);PIK3CA突变与PTEN缺失呈负相关(r=-0.479,P<0.01)。结论壮族人群大肠癌组织存在PIK3CA高频突变及PTEN缺失,二者相互排斥,各自独立;PTEN表达与肿瘤临床病理关系密切,PIK3CA突变与临床病理关系尚需进一步研究。
Objective To investigate the mutation rate and PTEN expression of exon 9 and exon 10 of PIK3CA gene in colorectal carcinoma of Zhuang nationality. Methods The mutation rates and PTEN expression of exon 9 and exon 9 of PIK3CA gene in 46 colorectal cancer tissues were detected by PCR-SSCP and MaxVison immunohistochemistry. The relationship between PIK3CA mutation and clinicopathological features was analyzed. Correlation of PTEN expression. Results The mutation rate of PIK3CA gene in colorectal carcinoma was 17.4% (6.5% in exon 9, 10.9% in exon 20) in colorectal cancer tissues, higher than that in normal colorectal tissues (P <0.05) , The positive rate of PTEN was 47.8%, which was lower than that of normal colorectal tissues (P <0.01). The PIK3CA mutation was not related to clinicopathological features (P> 0.05) PTEN deletion was negatively correlated (r = -0.479, P <0.01). Conclusion The high frequency mutation of PIK3CA and the deletion of PTEN in colorectal cancer tissues of Zhuang nationality patients are mutually exclusive and independent. The expression of PTEN is closely related to the clinical and pathological features of the tumor. The relationship between PIK3CA mutation and clinicopathological pathology needs to be further studied.