解析台灣腎細胞癌患者PBRM1與BAP1基因之突變圖譜
1虞凱傑、2黃昭淵、1林柏宏、1莊正鏗、1馮思中*
1林口長庚醫院 外科部 泌尿科 2台大醫院 泌尿部
The mutation spectrum of PBRM1 and BAP1 in Taiwan RCC
1Kai-Jie Yu, 2Chao-Yuan Huang,1Po-Hung Lin, 1Cheng-Keng Chuang, 1See-Tong Pang* 1Division of Urology, Department of Surgery, Chang Gung Memorial Hospital,
Chang Gung University, Taiwan.
2Department of Urology, National Taiwan University Hospital, Taipei, Taiwan
Purpose: Renal cell carcinoma (RCC) is the most common kidney cancer, accounting for 80% ~ 90% of the adult kidney cancer. ccRCC is characterized genetically by alterations in chromosome 3p, which harbors the tumor suppressor gene VHL. However, some studies indicated that the pathogenesis of ccRCC was not always related to the alteration of VHL, but related to the mutations of other tumor suppressor genes, such as SETD2, KDM6A, KDM5C, PBRM1 and BAP1. According to previous studies, it has been known that some genetic mutations are associated with racial variation. In this study, we would like to determine the mutation status of these tumor suppressor genes in Taiwan ccRCC.
Materials and Methods: Genomic DNA was extracted 100 ccRCC tumor tissue and blood samples. Sanger sequencing was used to detect PBRM1 and BAP1 gene mutation. The clinicopathological features were obtained from patients’ medical records and cancer registry service at Chang Gung Memorial Hospital and National Taiwan University Hospital.
Results: There were 23 cases with point mutations in PBRM1 and 4 cases in BAP1 by Sanger sequencing. However, we found no significant difference of the mutation in PBRM1 and BAP1 genes combined with clinicopathlogical features. Also, we found the mutation rate of PBRM1 and BAP1 in Taiwan were very similar in Western countries, 23% vs. 28.8% and 4% vs. 6%, respectively.
Conclusions: In ccRCC, the mutation frequency of PBRM1 and BAP1 between Taiwan and Western countries were very similar. Further understanding of these mutational events may help us to understand the pathogenesis of ccRCC.