Ting Xu

Background: A case of familial bilateral von Hippel-Lindauzon (VHL) renal cell carcinoma (RCC) was retrospectively reviewed and the etiological diagnosis was based on clinical characteristics and genetic testing. Methods: The clinical manifestations and imaging data were gained from the hospital information system (HIS). Peripheral blood samples were collected and genomic DNA and RNA were extracted. Additionally, mutations of VHL gene such as tiny insertion and deletion of base, point mutation and large deletion of gene were then detected and analyzed by DNA sequencing, real-time quantitative PCR and RT-PCR. Results: Real-time quantitative PCR and RT-PCR products sequencing showed that the number of VHL gene copies in peripheral blood of the patient was decreased, and pathological germline mutation was detected caused by single copy deletion of exon 2 of VHL gene. The patient was diagnosed as atypical VHL RCC according to clinical manifestations and genetic testing outcomes. Conclusions: VHL RCC can be diagnosed based on its clinical manifestations and genetic testing results.

This study was performed to investigate whether CSF-1 polymorphisms influenced the risk of renal cell carcinoma in a Chinese population. The potentially functional polymorphisms in CSF-1 (rs333951 and rs2050462) were genotyped in this hospital-based case-control study, comprising 1512 renal cell carcinoma patients and 1691 controls in a Chinese population using the TaqMan assay. Furthermore, odds ratios (ORs) and 95% confidence intervals (CI) were used to estimate such an association. The logistic regression was used to assess the association between these genetic polymorphisms and the risk of renal cell carcinoma. We found the genotype and allele frequency distribution of rs2050462 were significantly associated with the increasing risk of renal cell carcinoma (P = 0.007). However, no statistical significance was found in the association between CSF-1 rs333951 polymorphism and the susceptibility of renal cell carcinoma (P = 0.589). The analysis of combined risk alleles revealed that patients with two to four risk alleles showed no elevated risk of renal cell carcinoma compared to those with zero to one risk alleles (adjusted OR 1.09; 95% CI 0.95, 1.26; P = 0.226). Furthermore, compared with the genotypes containing A allele (AC and AA), the patients carrying the CC genotype in rs2050462 had a significantly greater prevalence of clinical stage II and IV (adjusted OR 0.67; 95% CI 0.47, 0.94; P = 0.021; adjusted OR 0.50; 95% CI 0.29, 0.88; P = 0.015, respectively). The functional rs2050462 in CSF-1 might have a substantial influence on the renal cell carcinoma susceptibility and evolution in the Chinese population.

Comparison between transrectal and transperineal prostate biopsy for detection of prostate cancer: a meta-analysis and trial sequential analysis

Recently, increasing relevant studies researched the efficacy of castration resistant prostate cancer (CRPC) patients using chemotherapy with or without estramustine, in order to assess the efficacy and toxicity of combining estramustine with chemotherapy for the treatment of CRPC. Relevant randomized clinical trials were systematically searched from the databases Pubmed, Embase, and Web of science up to April 1, 2016. Data were centrally extracted and analyzed from the previous studies by 2 independent reviewers. The primary endpoint was overall survival (OS) with pooled hazard ratios. Secondary endpoints were prostate-specific antigen (PSA) response and grade 3 or 4 toxicity using pooled odds ratios. Stata version 12.0 software was used for statistical analysis. Overall, this meta-analysis identified 9 eligible articles, including a total of 956 patients, who had been accrued between January 1, 1993 and December 1, 2010 and randomly divided into chemotherapy with estramustine and without estramustine. Chemotherapy (with or without estramustine) consisted of docetaxel, paclitaxel, ixabepilone, epirubicin, and vinblastine. Patients who received chemotherapy with estramustine had a better improvement in PSA response rate, comparing those without estramustine (OR = 1.84, 95% CI = 1.20-2.80). However, OS between the 2 groups indicated no significant differences (HR = 0.90, 95% CI = 0.77-1.05). Besides, these results of meta-analysis showed no obvious differences between these 2 groups in grade 3 or 4 adverse effects, including anemia (OR = 0.78, 95% CI = 0.38-1.57), neutropenia (OR = 0.91, 95% CI = 0.59-1.43), thrombocytopenia (OR = 0.68, 95% CI = 0.19-2.42), nausea (OR = 2.34, 95% CI = 0.81-6.72), vomiting (OR = 2.43, 95% CI = 0.69-8.51), diarrhea (OR = 3.45, 95% CI = 0.93-12.76), fatigue (OR = 0.67, 95% CI = 0.32-1.41), neuropathy (OR = 0.54, 95% CI = 0.21-1.44), allergic reaction (OR = 1.60, 95% CI = 0.37-6.84), thromboembolic event (OR = 2.18, 95% CI = 0.86-5.51), and edema (OR = 1.02, 95% CI = 0.18-5.95). This meta-analysis indicated chemotherapy with additional estramustine increased the PSA response rate. However, OS and grade 3 or 4 toxicity were not improved for these patients with CRPC.

Previous studies have investigated the relationship between GSTA1, GSTM1, GSTP1, and GSTT1 polymorphisms and bladder cancer (BCa) susceptibility, respectively, but the results remain inconsistent. So, we conducted this meta-analysis including 79 case–control studies to explore such relationships. We searched PubMed, EMBASE, Cochrane library, Web of Science, and CNKI for relevant available studies. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were implemented to evaluate the intensity of associations. Publication bias was estimated using Begg funnel plots and Egger regression test. To assess the stability of the results, we used sensitivity analysis with the method of calculating the results again by omitting 1 single study each time. Between-study heterogeneity was tested using the I 2 statistic. No significant association between GSTA1 polymorphism and BCa susceptibility (OR = 1.05, 95% CI 0.83–1.33) was noted. Besides, meaningful association between individuals who carried the GSTM1 null genotype and increased BCa risk was detected (OR = 1.39, 95%CI 1.28–1.51). When stratified by ethnicity, significant difference was found in both Caucasian (OR = 1.39, 95% CI 1.23–1.58) and Asian populations (OR = 1.45, 95% CI 1.31–1.61). Moreover, in the subgroup analysis by source of controls (SOC), the results were significant in both hospital-based control groups (OR = 1.49, 95% CI 1.35–1.64) and population-based control groups (OR = 1.21, 95% CI = 1.07–1.37). Additionally, the analysis revealed no significant association between GSTP1 polymorphism and BCa risk (OR = 1.07, 95% CI 0.96–1.20). What is more, significant associations between GSTT1 polymorphism and BCa susceptibility were discovered (OR = 1.11, 95% CI 1.00–1.22). In the subgroup analysis by ethnicity, significant associations between GSTT1 null genotype and BCa risk were observed only in Caucasians (OR = 1.25, 95% CI 1.09–1.44). Furthermore, when stratified by SOC, no obvious relationship was found between the GSTT1 null genotype polymorphism with hospital-based population (OR = 1.11, 95% CI 0.97–1.28) or population-based population (OR = 1.10, 95% CI 0.96–1.27). This study suggested that GSTM1 null genotype and GSTT1 null genotype might be related to higher BCa risk, respectively. However, no associations were observed between GSTA1 or GSTP1 polymorphisms and BCa susceptibility.