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目的分析Polybromo 1(PBRM 1)基因在国人肾透明细胞癌中的突变特点,探讨基因突变与临床病理特征和预后的关系。方法选取53例肾透明细胞癌患者,利用PCR结合直接测序的方法检测PBRM 1基因2～5号外显子、15～17号外显子的突变情况。分析PBRM 1基因突变与临床病理特征和预后的相关性。结果 53例样本中检测出PBRM 1基因突变14例,突变率为26%。突变较集中分布在第15、17外显子,第15外显子5例,第17外显子6例。PBRM 1基因突变组和无突变组的中位无进展生存期分别为5个月(95%CI:1.6～8.4个月)和14个月(95%CI:9.7～18.3个月),中位生存期分别为7个月(95%CI:2.6～11.4个月)和18个月(95%CI:5.6～30.4个月),差异均有统计学意义(P<0.05)。PBRM 1基因突变与性别、年龄、发病部位、分期及疾病控制率等无关(P>0.05)。结论中国人肾透明细胞癌中PBRM 1基因突变率较高,突变主要位于第15、17外显子。PBRM 1基因突变可能是肾透明细胞癌患者预后不良的危险因素。
Objective To analyze the mutation of Polybromo 1 (PBRM 1) gene in human renal clear cell carcinoma and to explore the relationship between gene mutation and clinicopathological features and prognosis. Methods Fifty-three patients with clear cell renal cell carcinoma were selected and the mutations of exon 2 and exon 15 to exon 17 of PBRM 1 gene were detected by PCR and direct sequencing. Analysis PBRM 1 gene mutation and clinicopathological features and prognosis of the correlation. Results Among the 53 samples, 14 cases of PBRM1 gene mutation were detected, the mutation rate was 26%. The mutations were concentrated in the 15,17 exon, 15 exon in 5 cases, exon 17 in 6 cases. The median progression-free survival was 5 months (95% CI: 1.6 to 8.4 months) and 14 months (95% CI: 9.7 to 18.3 months) for the PBRM1 gene mutation group and the non-mutation group, respectively. The median Survival was 7 months (95% CI: 2.6 to 11.4 months) and 18 months (95% CI: 5.6 to 30.4 months), respectively. The differences were statistically significant (P <0.05). The mutation of PBRM1 was not associated with gender, age, site of disease, staging and disease control rate (P> 0.05). Conclusions The mutation rate of PBRM 1 gene in Chinese renal clear cell carcinoma is high, and the mutation is mainly located in exon 15 and exon 17. PBRM 1 gene mutation may be a risk factor for poor prognosis in patients with clear cell renal cell carcinoma.