Journal of Kidney Cancer and VHL最新文献

Development of more sensitive imaging techniques has caused an increase in the number of diagnosed small renal tumors. Approximately 2-3% of these lesions are proved to be angiomyolipomas (AML), a rare benign tumor of the kidney sometimes causing pain and hematuria. The most required approach is observation, but in the case of recurrent symptoms or larger tumors, which may cause bleeding, a more active treatment is required. We present two cases of symptomatic AML tumors of different sizes in the kidney: one treated with transarterial embolization (TAE), and the other with percutaneous cryoablation (CRA). The lesions were diagnosed on the basis of contrast-enhanced computed tomography (CT) scan and magnetic resonance imaging (MRI). Both treatments proved to be effective and safe for treating renal AMLs. A follow-up carried out, based on contrast-enhanced CT scan, confirmed complete treatment of AML and decreased lesion size. There are myriad minimally invasive approaches for the treatment of renal AMLs, and the preservation of renal function remains a priority. The most popular treatment option is the selective renal artery embolization. Owing to its limited invasiveness, CRA could be an attractive option for the preventive treatment of AML.

The aim of the present study was to investigate the rs1800468 (G-800A), rs1800469 (C-509T), rs1800470 (C29T), and rs1800471 (G74C) TGFB1 genetic polymorphisms and their haplotype structures in patients with Wilms Tumor (WT) and neoplasia-free controls. The genomic DNA was extracted from 35 WT patients and 160 neoplasia-free children, and the TGFB1 polymorphisms were genotyped by polymerase chain reaction, followed by restriction fragment length polymorphism. The haplotype structures were inferred, and permutation and logistic regression tests were performed to check for differences in haplotype distribution between the control and WT individuals. Positive associations were found in the recessive model for rs1800469 T allele (OR: 8.417; 95% CI: 3.177 to 22.297; P < 0.001) and for the rs1800470 C allele (OR: 3.000; 95% CI: 1.296 to 6.944; P = 0.01). Haplotype analysis revealed a significant negative association between GCTG and WT (OR: 0.236, 95% CI: 0.105 to 0.534; P = 0.0002); by contrast, the GTTG haplotype was associated with increased risk for WT (OR: 12.0; 95% CI: 4.202 to 34.270; P < 0.001). Furthermore, rs1800469 was negatively correlated with tumor size and a trend toward a positive correlation for capsular invasion was observed in the dominant model (Tau-b: -0.43, P = 0.02 and tau-b: 0.5, P = 0.06, respectively). This is the first study with rs1800468, rs1800469, rs1800470, and rs1800471 TGFB1 polymorphisms in WT, and our results suggest that the TGFB1 promoter and signal peptide region polymorphisms may be associated with WT susceptibility and clinical presentation.

Advance diagnostic and treatment modalities have improved outcomes for renal cell carcinoma (RCC) patients, but the prognosis for those with metastatic disease (mRCC) remains poor. As given metastatic distribution is critical in guiding treatment decisions for mRCC patients, we evaluated evolving metastatic patterns to assess if our current practice standards effectively address patient needs. A systematic literature review was performed to identify all publicly available prospective clinical trials in metastatic renal cell carcinoma (mRCC) from 1990 to 2018. A total of 16,899 mRCC patients from 127 qualified phase I-III clinical trials with metastatic site documentations were included for analysis for incidence of metastases to lung, liver, bone, and lymph nodes (LNs) over time. Studies were categorized into three treatment eras based on the timing of regulatory approval: Cytokine Era (1990-2004), vascular endothelial growth factor/tyrosine kinase inhibitor (TKI) Era (2005-2016), and immune checkpoint inhibitor/TKI Era (ICI-TKI, 2017-2018) and also classified as first-line only (FLO) or second-line and beyond (SLB). Overall, an increase in the incidence of bone and LNs metastases in FLO and SLB, and lung metastases in FLO, was seen over the three treatment eras. Generally, the burden of disease is higher in SLB when compared with FLO. Importantly, in the ICI-TKI era, the incidences of bone metastasis are 28% in FLO and 29% in SLB settings. The disease burden in patients with mRCC has increased steadily over the past three decades. Given the unexpectedly high rate of bone metastasis, routine dedicated bone imaging should be considered in all patients with mRCC.

Nephrometry scores are designed to characterize tumors and stratify the surgical complexity. It remains unclear as to which nephrometry score can accurately predict the surgical outcomes. We aimed to assess the utility of radius, exophytic/endophytic, nearness, anterior/posterior, location (RENAL), preoperative aspects and dimensions used for anatomic classifications (PADUA), and centrality index (C-index) nephrometry scores for predicting the strict Trifecta achievement from a single institution series robotic-assisted partial nephrectomy (RAPN). We retrospectively identified the prospectively maintained robotic surgery database records of 91 patients who underwent RAPN between June 2015 and September 2020 in Antalya Training and Research Hospital. The main outcome of the study was the achievement of strict Trifecta (negative surgical margin, no major urologic complications, warm ischemia time ≤25 min, and ≥85% preservation of estimated glomerular filtration rate). A multivariable analysis was performed to identify the factors of strict Trifecta success. The mean patient age was 55.82 ± 13.37 years with a median clinical tumor size of 3.5 cm (IQR 2.5-4.9). The median RENAL, PADUA, and C-index score were 7(IQR 6-8), 8(IQR 7-10), and 2.01(IQR 1.64-2.72), respectively. A strict Trifecta could be achieved in 54 patients (59.3%). Clinical tumor size (P = 0.011), RENAL risk groups (low:reference; intermediate; P = 0.040; high; P = 0.009), PADUA risk groups (low:reference; intermediate; P = 0.044; high; P = 0.001) and C-index risk groups (low:reference; high; P = 0.015) were the independent predictors of strict Trifecta attainment in the multivariate analysis. None of the nephrometry scores were a superior predictor compared to other nephrometry scores in comparative analysis. RENAL, PADUA, and C-index scores were all independent predictors of a strict Trifecta achievement. Our comprehensive comparison of the three scores identified that none of the nephrometry scores proved to be inferior to others nephrometry scores.

Von-Hippel-Lindau (VHL) syndrome is characterized by focal vasoproliferative tumors of retinal capillaries called retinal capillary hemangioblastomas (RCH). These tumors are initially small and can be easily missed if not looked for carefully. As they grow, these tumors are more demanding to treat and hence the importance of detecting them early and treating them. Herein, we describe and review the optical coherence tomography angiography (OCTA) of the early- stage lesion, which suggested the involvement of superficial and a deeper retinal capillary plexus. In addition, to helping us detect these lesions earlier, OCTA may also help to understand the in vivo changes occurring at an earlier phase.

Adenoid cystic carcinoma (ACC) is a rare malignant cancer that arises from secretory glands. Slow growth, perineural invasion, and late recurrences are the main characteristics of ACC. Only few cases of kidney metastases from ACC have been reported in the literature. We report here the case of a 66-year-old female patient who presented with bilateral renal metastases from ACC of the nasal cavity, detected 14 years after treatment of primary tumor and 6 years after metastasectomy of lung metastases. Histological examination confirmed diagnosis and the patient was treated with systemic chemotherapy. Radiological evaluation showed stability of the disease. However, a progression with occurrence of metastases in other sites (lung and bones) has been observed after 7 months. She is still receiving second-line chemotherapy. To the best of our knowledge, this is the second case of kidney metastases from ACC of the nasal cavity.

Using a novel three-dimensional (3D) approach, we tracked histological changes to elucidate the earliest stages of renal clear cell neoplasia in normal kidney tissue of patients with von Hippel-Lindau (VHL) disease. Tissue blocks of interest were procured, serially sectioned, and 3D reconstruction of the entirety of pathologic events was performed. The results reveal an abundance of foci with aberrant clear cell proliferation that initially develop along the tubular lining, but have the potential to aggregate within individual tubules. This stage is followed by the extension of clear cell aggregates beyond the tubular basement membrane, which allows for the recruitment of angiogenesis derived from interstitial vasculature. The results suggest that the most frequent pathologic event in VHL kidneys is the presence of isolated or aggregated clear cells within the tubular epithelium, potentially developing further into a protracted process of neoplasia. The abundance of independent pathologic events in VHL kidneys confirms developmental mechanisms to precede tumor initiation. To our knowledge, this is the first report demonstrating that tracking of histologic changes in the 3rd dimension enables the confirmation of the sequence of events from the earliest pathologic change in the VHL kidney to the neoplastic stage. This approach is not only useful for visualization and quantification of pathologic changes but also for targeted sampling allowing selective analysis of the earliest stages of clear cell carcinogenesis.

Primary synovial sarcoma (PSS) of the kidney is considered the rarest type of all renal sarcomas with specific chromosomal translocation t (X; 18) (p11.2; q11.2). We report the case of a 65-year-old man with no medical conditions who presented to the emergency department with sudden severe right flank pain associated with haemodynamic instability and haemorrhagic shock. Computed tomography (CT) of the abdomen and pelvis revealed a right renal mass. A right open radical nephrectomy was performed. Histopathology revealed a monophasic synovial sarcoma. The patient received six cycles of docetaxel and gemcitabine as adjuvant chemotherapy. No sign of recurrence was seen on a follow-up CT urogram. This rare tumour often presents atypically, and clear guidelines regarding appropriate treatment are lacking. Our case showed that treatment with docetaxel/gemcitabine after an open radical nephrectomy is promising.

Obesity has been established as a risk factor for renal cell carcinoma (RCC). Recently, studies have described obesity as a probable protecting factor in the metastatic stage of RCC. In this study, we assessed the relationship between body mass index (BMI) and overall survival in patients under systemic therapy. The correlation between BMI and overall median survival was studied in 76 patients diagnosed with metastatic RCC under systemic therapy. The groups were divided into overweight and obesity (BMI > 25 kg/m²) and underweight or normal (BMI < 25 kg/m²). Statistical analysis was performed using the Cox regression model adjusted by gender. A total of 76 patients were studied: 16 women (21%) and 60 men (79%). The median BMI was 27.96 kg/m²; 24 patients (31.6%) had low BMI and 52 (68.4%) had high BMI. Median overall survival in the group with BMI > 25 kg/m² was 17 months (95% confidence interval [CI]: 13-34 months), while in the group with BMI ≤ 25 kg/m², it was 14 months (95% CI: 8-20 months). When adjusted by gender, the group with BMI > 25 kg/m² presented a hazards ratio of 0.54 (95% CI: 0.30-0.96), P = 0.044 (Log Rank). A high BMI significantly acts as a protecting factor. We observed an increased overall survival of overweight and obese patients within the context of metastatic RCC under systemic treatment. These data confirm the findings published in other studies that suggest the role of lipid metabolism in this type of tumors.