To investigate the clinical characteristics, treatments and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions (Xp11.2 tRCC), the epidemiological features and treatment results of 34 cases of Xp11.2 tRCC, which were diagnosed by immunohistochemistry staining of TFE3 and fluorescence in situ hybridization at our center, were retrospectively reviewed. The 34 patients included 21 females and 13 males aged 3 to 64 years (median age: 27 years). Four patients were children or adolescents (<18 years of age), and 26 patients were young or middle-aged adults (18–45 years). Radical nephrectomy was performed on 25 patients. Laparoscopic nephron-sparing surgery was performed on 9 patients who presented with an isolated mass with a small diameter (<7 cm) and well-defined boundary on computed tomography imaging. Postoperative staging showed that 25 cases (73.53%) were at stage I/II, while 9 cases (26.47%) were at stage III/IV. All stage I/II patients received a favorable prognosis with a three-year overall survival rate of 100%, including the patients who underwent laparoscopic nephron-sparing surgery. With the exception of 2 children, the other 7 stage III/IV patients died or developed recurrence with a median follow-up of 29 months. On univariate analysis, maximum diameter, adjuvant treatment, TNM stage, lymph node metastasis, inferior vena cava tumor thrombosis and tumor boundary were identified as statistically significant factors impacting survival (P<0.05). Multivariate analysis indicated that TNM stage and inferior vena cava tumor thrombosis were independent prognostic factors (P<0.05). In conclusion, Xp11.2 tRCC is a rare subtype of renal cell carcinoma that mainly occurs in young females. Nephron-sparing surgery was confirmed effective preliminarily in the treatment of small Xp11.2 tRCCs with clear rims. Advanced TNM stage and inferior vena cava tumor thrombosis were associated with poor prognosis.

ObjectivesThis study was intended to analyze effects of miR-199a-3p and Smad1 on proliferation, migration and invasion of prostate cancer (PCa) cells.ResultsMiR-199a-3p was significantly decreased in PCa tissues in comparison to that in adjacent normal tissues (P < 0.05). Over-expressed miR-199a-3p markedly suppressed proliferation and invasion of PCa cells (P < 0.05). MiR-199a-3p was negatively correlated with Smad1 expression, and overexpression of Smad1 could antagonize the effects of miR-199a-3p on PCa cells.Materials and methodsThe PCa tissues and their adjacent normal tissues were collected from 54 PCa patients. Expressions of miR-199a-3p and Smad1 mRNA in tissues and cells were evaluated with real-time quantitative polymerase chain reaction (RT-qPCR), and immunohistochemistry assay was used to detect Smad1 protein expressions. The target relationship between miR-199a-3p and Smad1 was assessed by luciferase reporter assay. The PCa cell lines (i.e. PC-3 cells) were transfected with miR-199a-3p mimics and Smad1-cDNA. MTT and Transwell assays were applied to detect proliferative, migratory and invasive abilities of PCa cells.ConclusionsMiR-199a-3p suppressed proliferation and invasion of PCa cells by targeting Smad1.

BackgroundThe preoperative neutrophil-to-lymphocyte ratio (NLR), C-reactive protein/albumin ratio (CRP/Alb ratio) and platelet-to-lymphocyte ratio (PLR) have been demonstrated to predict the clinical outcome of various human cancer, including renal cell carcinoma(RCC). The aim of our study was to explore the prognostic values of these ratios in patients with Xp11.2 translocation/TFE3 gene fusions renal cell carcinoma (Xp11.2 tRCC).MethodsA retrospective multicentre study was performed in 82 Xp11.2 tRCC patients who underwent radical or partial nephrectomy. The optimal cutoff values of the NLR, CRP/Alb ratio and PLR were determined by the receiver operating characteristic (ROC) analysis. The impact of the NLR, CRP/Alb ratio and PLR, as well as other clinicopathological characteristics, on disease-free survival (DFS) and overall survival (OS) were evaluated using the univariate and multivariate Cox regression analyses.ResultsThe optimal cutoff values of the NLR, CRP/Alb ratio and PLR were set at 2.45, 140 and 0.08, respectively, according to the ROC analysis. Univariate analyses showed that the NLR, CRP/Alb ratio and PLR all were associated with DFS of Xp11.2 tRCC patients (P < 0.001, P = 0.005 and P = 0.001, respectively) and OS of Xp11.2 tRCC patients (P = 0.016, P = 0.003 and P = 0.014, respectively). Multivariate analysis indicated that the NLR was independently associated with DFS of Xp11.2 tRCC patients (hazard ratio [HR]: 4.25; 95% confidence interval [95% CI]: 1.19–15.18; P = 0.026) along with age (P = 0.004), the pT status (P < 0.001) and the pN status (P < 0.019), and the NLR (HR: 26.26; 95% CI: 1.44–480.3; P = 0.028) also was independently associated with OS in patients with Xp11.2 tRCC, along with age (P = 0.016) and a tumour thrombus (P = 0.007).ConclusionOverall, relatively high NLRs, CRP/Alb ratios and PLRs were associated with a poor prognosis of Xp11.2 tRCC patients; among of them, only the NLR independently predicted the progression of Xp11.2 tRCC, and the NLR may help to identify patients with high metastasis or relapse risk.

PRCC-TFE3 renal cell carcinoma (RCC) is one of the most common types of Xp11.2 translocation renal cell carcinoma (tRCC), of which the diagnosis mainly relies on reverse transcription-polymerase chain reaction (RT-PCR) or chromosomal analysis in fresh frozen samples. Herein, we developed a new dual-fusion fluorescence in situ hybridization (FISH) probe to succinctly identify PRCC-TFE3 RCC in paraffin-embedded tissue. We immunohistochemically analyzed TFE3 and cathepsin K expression in 23 cases of Xp11.2 tRCC which had been confirmed by break-apart TFE3 FISH probe. Next, the dual-fusion FISH assay was performed on these selected cases. Twenty typical cases of clear renal cell carcinoma and 20 cases of papillary renal cell carcinoma were collected as control groups. Seven cases were finally confirmed as PRCC-TFE3 RCC by FISH detection, emerging dual-fusion signals, of which 2 cases were identified as PRCC-TFE3 RCC by RT-PCR previously. All remaining cases were negative for the PRCC-TFE3 rearrangement by FISH. The TFE3 immunohistochemistry was positive in 22/23 cases and the cathepsin K was positive in 16/23 cases. All 7 PRCC-TFE3 RCCs showed positive cathepsin K immunoreactivity. Our results reveal that PRCC-TFE3 dual-fusion FISH probe is an efficient and concise technique for diagnosing PRCC-TFE3 RCC in paraffin-embedded tissue.