Genetic association of polymorphisms inAXIN1gene with clear cell renal cell carcinoma in a Chinese population

2017 ◽  
Vol 11 (11) ◽  
pp. 947-955 ◽  
Author(s):  
Yan Pu ◽  
Xuhua Mi ◽  
Peng Chen ◽  
Bin Zhou ◽  
Peng Zhang ◽  
...  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Qiang Zhao ◽  
Jia Xue ◽  
Baoan Hong ◽  
Wubin Qian ◽  
Tiezhu Liu ◽  
...  

Abstract Background Large-scale initiatives like The Cancer Genome Atlas (TCGA) performed genomics studies on predominantly Caucasian kidney cancer. In this study, we aimed to investigate genomics of Chinese clear cell renal cell carcinoma (ccRCC). Methods We performed whole-transcriptomic sequencing on 55 tumor tissues and 11 matched normal tissues from Chinese ccRCC patients. We systematically analyzed the data from our cohort and comprehensively compared with the TCGA ccRCC cohort. Results It found that PBRM1 mutates with a frequency of 11% in our cohort, much lower than that in TCGA Caucasians (33%). Besides, 31 gene fusions including 5 recurrent ones, that associated with apoptosis, tumor suppression and metastasis were identified. We classified our cohort into three classes by gene expression. Class 1 shows significantly elevated gene expression in the VEGF pathway, while Class 3 has comparably suppressed expression of this pathway. Class 2 is characterized by increased expression of extracellular matrix organization genes and is associated with high-grade tumors. Applying the classification to TCGA ccRCC patients revealed better distinction of tumor prognosis than reported classifications. Class 2 shows worst survival and Class 3 is a rare subtype ccRCC in the TCGA cohort. Furthermore, computational analysis on the immune microenvironment of ccRCC identified immune-active and tolerant tumors with significant increased macrophages and depleted CD4 positive T-cells, thus some patients may benefit from immunotherapies. Conclusion In summary, results presented in this study shed light into distinct genomic expression profiles in Chinese population, modified the stratification patterns by new molecular classification, and gave practical guidelines on clinical treatment of ccRCC patients.


PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e109285 ◽  
Author(s):  
Qiang Cao ◽  
Jian Wang ◽  
Mingcong Zhang ◽  
Pu Li ◽  
Jian Qian ◽  
...  

2019 ◽  
Vol 26 (6) ◽  
pp. 624-629 ◽  
Author(s):  
Yan Zhu ◽  
Yao‐Rui Zhao ◽  
Xian‐Fa Yang ◽  
Mao‐Ti Wei ◽  
Yuan‐Jie Niu ◽  
...  

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0128771 ◽  
Author(s):  
Ruizhe Zhao ◽  
Kang Liu ◽  
Zhengkai Huang ◽  
Jun Wang ◽  
Yongsheng Pan ◽  
...  

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Gang Feng ◽  
Hou-Bao Huang ◽  
Xiao-Bing Ye ◽  
Peng Zhang ◽  
Jian-Jun Huang ◽  
...  

Introduction. CD146 is a membrane signal receptor in tumor-induced angiogenesis. However, limited studies have focused on the CD146 promoter polymorphisms in clear cell renal cell carcinoma (ccRCC). Purpose. The purpose of this study was to investigate the association between polymorphisms located in the promoter region of the CD146 gene and characteristics of ccRCC in Chinese population. The association between the CD146 promoter polymorphisms and CD146 expression was also investigated in ccRCC. Materials and Methods. A total of 600 samples including 300 ccRCC patients and 300 healthy controls were collected for analysis of the CD146 promoter polymorphisms by direct sequence. The CD146 expressions were measured by qRT-PCR. Results. We had not found any significant differences in genotypic and allelic frequencies of CD146 promoter polymorphisms between ccRCC patients and controls. The rs3923594 was associated with stage and metastasis (300 cases) and recurrence (263 cases) of ccRCC in Chinese population. A significant association was also observed between the rs3923594 and CD146 expression (227 cases) in ccRCC. Conclusions. CD146 promoter polymorphisms were not associated with the risk of ccRCC in Chinese population. The rs3923594 was an independent predictor of recurrence in Chinese patients with localized ccRCC.


Oncotarget ◽  
2016 ◽  
Vol 8 (15) ◽  
pp. 24196-24201 ◽  
Author(s):  
Ning Zhang ◽  
Yishuo Wu ◽  
Jian Gong ◽  
Kaiwen Li ◽  
Xiaolin Lin ◽  
...  

2012 ◽  
Vol 36 (2) ◽  
pp. 177-182 ◽  
Author(s):  
Guoping Wang ◽  
Jianguo Hou ◽  
Liye Ma ◽  
Jiaxin Xie ◽  
Jianhua Yin ◽  
...  

2007 ◽  
Vol 177 (4S) ◽  
pp. 214-214
Author(s):  
Sung Kyu Hong ◽  
Byung Kyu Han ◽  
In Ho Chang ◽  
June Hyun Han ◽  
Ji Hyung Yu ◽  
...  

2019 ◽  
Vol 22 (6) ◽  
pp. 13-22
Author(s):  
E. V. Kryaneva ◽  
N. A. Rubtsova ◽  
A. V. Levshakova ◽  
A. I. Khalimon ◽  
A. V. Leontyev ◽  
...  

This article presents a clinical case demonsratinga high metastatic potential of clear cell renal cell carcinoma combined with atypical metastases to breast and paranasal sinuses. The prevalence of metastatic lesions to the breast and paranasal sinuses in various malignant tumors depending on their morphological forms is analyzed. The authors present an analysis of data published for the last 30 years. The optimal diagnostic algorithms to detect the progression of renal cell carcinoma and to evaluate the effectiveness of the treatment are considered.


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