Chinese Clinical Oncology

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Analysis of PBRM 1 gene mutations in 53 Chinese patients with clear cell renal cell carcinoma

LI Qiang,KONG Yan,MAO Li-li,LIANG Long,XU Wei-ran,CHI Zhi-hong,SI Lu, CUI Chuan-liang,SHENG Xi-nan,DAI Jie,ZU Ming,ZHANG Qian-nan,GUO Jun   

  1. Department of Renal Cancer and Melanoma,Peking University Cancer Hospital, Beijing Cancer Hospital & Institute,Beijing 100142,China
  • Received:2012-03-20 Revised:2012-04-30 Online:2012-07-31 Published:2012-07-31

Abstract: Objective To determine the characteristics of polybromo 1(PBRM 1)gene mutations of clear cell renal cell carcinoma in the Chinese populations and further analyze the correlations between PBRM1 gene mutations and the clinical parameters. Methods Mutations were detected in exons 2-5 and exon 15-17 of PBRM 1 in genomic DNA of 53 clear cell renal cell carcinomas by PCR amplification and sanger direct sequencing,and correlations were analyzed among the mutations and the clinical parameters. Results Mutations were detected in 14 of 53 clear cell renal cell carcinomas(26%). Eleven of 14 mutations were in the region of exon 15 and exon 17,5 in exon 15 and 6 in exon 17.The median progress free survival in mutation group and nonmutation group was 5 months(95%CI:1.6-8.4 months) and 14 months(95%CI:9.7-18.3 months),and the median overall survival was 7 months(95%CI:2.6-11.4months) and 18 months(95%CI:5.6-30.4months),with statistical significance(P<0.05). No significant differences were observed between mutations and the other various clinical parameters,such as gender,age,tumor position,stage and the disease control rate. Conclusion The percentage of PBRM 1 gene mutations is higher in Chinese patients with clear cell renal cell carcinoma.Mutations are mainly located in the exon 15 and exon 17. PBRM1 gene mutation may be a factor of poor prognosis.

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