Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome?

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disease caused by a genetic aberration of the tumor suppressor gene VHL and characterized by multi-organ tumors. The most common neoplasm is retinal or cerebral hemangioblastoma, although spinal hemangio-blastomas, Renal Clear Cell Carcinoma (RCCC), pheochromocytomas (Pheo), paragangliomas, Pancreatic Neuroendocrine Tumors (PNETs), cystadenomas of the epididymis, and tumors of the lymphatic sac can also be found. Neurological complications from retinal or CNS hemangio-blastoma and metastases of RCCC are the most common causes of death. There is a strong association between pheochromocytoma and VHL syndrome, and pheochromocytoma is often a classic manifestation of the syndrome. RCCCs are often incidental and identified during other tests. Between 35 and 70% of patients with VHL have pancreatic cysts. These can manifest as simple cysts, serous cystoadenomas, or PNETs with a risk of malignant degeneration or metastasis of no more than 8%. The objective of this retrospective study is to analyze abdominal manifestations of VHL from a surgical point of view.

The Benign Renal Masses that Were Exposed after Nephron-Sparing Surgery

After nephron-sparing surgery (NSS), postsurgical fatty tumor could be mistakenly reported as angiomyolipoma during radiologic imaging of some patients. In the present paper, we studied the postsurgical fatty tumor detected after NSS but not covered before in the literature. In addi-tion, we also evaluated whether the postsurgical fatty tumor was related to the surgical technique employed. Patients admitted to the urology department of our university hospital from 2014 to 2019 and operated with open NSS were evaluated retrospectively. We detected those 156 patients were operated with NSS. Nine patients with angiomyolipoma as primary pathology and four patients with surgical border positivity were excluded from the study. The patients were divided into two groups based on the repair of tumor extraction region. In Group 1, fatty tissue was used for repair, and Group 2 is the primary repair group. In all, 143 patients (Group 1 = 79, and Group 2 = 64) were included in the study. No demographic and radiologic differences, such as number of patients, age, gender, positioning of tumor, mass localization, tumor diameter, and RENAL nephrometry scoring system, were detected between the two groups. Postsurgical fatty tumors were detected in 28 patients in Group 1 and in two patients in Group 2 (P < 0.001). In patients with negative surgical margins after partial nephrectomy, lesions that were radiologically detected mimicking as angiomyolipoma were defined as “postsurgical fatty tumor.” This mass containing adipose tissue only nei-ther depicted vascularization and enhancement nor increase in size for at least 1 year. We assumed that these lesions must be followed as benign lesions not requiring additional treatment.

Primary Chondrosarcoma in L-shaped Crossed Fused Renal Ectopia Coexisting with Papillary Urothelial Carcinoma in Urinary Bladder

Primary renal chondrosarcomas are rare tumors that are high-grade in nature and, unfortunately, have poorly understood pathogenesis and extremely low prognosis. The coexistence of a discrete malignancy in the urinary bladder is even rarer, with the occurrence of distinct papillary urothelial carcinoma in the urinary bladder in this case. The clinical presentation is nonspecific, and the primary radiological investigations have a limited scope in providing specific diagnosis of this entity. The final diagnosis is possible on thorough histopathological examination of the resected specimen, which requires extensive sampling and meticulous reporting. As of now, the only way to achieve a better prognosis is by early diagnosis. It is necessary to keep the possibility of occurrence of sarcomas at rare sites in the differential diagnoses. The cytogenetic and molecular abnormalities associated with this entity need to be elucidated to achieve a more satisfactory outcome concerning the overall management of the patient.

Examining the Relationship between Depression, Anxiety and Stress in Kidney Cancer Patients

Cancer of the kidney is one of the 10 most common cancers found globally. Overall, it is the fourth most common cancer in men and the eighth most common cancer in women. Many kidney cancer patients experience psychologic problems and reactions. The present study examined relationship between anxiety, depression, and perceived stress symptoms in kidney cancer patients. Cross-sectional data were obtained from the patients diagnosed with kidney cancer. All participants completed sociodemographic form, Hospital Anxiety and Depression form, and Per-ceived Stress Scale. Statistical analysis was exercised using the Student’s t-test, Chi-squared test (χ2), Fischer’s exact test, ANOVA, Mann–Whitney U test, and Kruskal–Wallis one-way variance analysis. A total of 250 patients participated in the study. The mean age was 57.4 years (SD 6.4, range = 25–76 years). The majority of patients were males (73%) and married (218). Anxiety symptoms were determined in 91.2% patients, depression symptoms in 87.2% patients, and perceived stress symptoms in 93.6% patients. The mean scores of Hospital Depression and Anxiety Scale (HADS)-Anxiety, HADS-Depression, and HADS-Perceived Stress were significantly different between age (P < 0.05), gender (P < 0.05), and income groups (P < 0.001). Kidney cancer patients showed poorer psychologic health. The overall levels of anxiety, depression, and perceived stress symptoms were higher among the studied kidney cancer patients. Findings of the current study could improve both psychologic well-being of patients and health-related quality of life.

Durable Remission with Immunotherapy in a Patient with Sarcomatoid Renal Cell Carcinoma

Sarcomatoid differentiation is a rare and aggressive histologic subtype with poor prognosis, seen in several malignancies. In sarcomatoid renal cell carcinoma (RCC), the degree of sarcomatoid differentiation and the stage at presentation determines the prognosis. Despite resection, chemotherapy and targeted therapy response is modest, with relapse usually occurring within a few months. We present a case of a gentleman with sarcomatoid RCC managed with pembrolizumab, who has had no evidence of recurrence for over 4 years since the last dose of immunotherapy. RCCs with sarcomatoid differentiation have a high presence of programmed cell death protein 1 and programmed cell death ligand 1 in T cells and tumor cells, respectively, making immunotherapy an attractive option in this setting. Clinical trials are ongoing to further define the benefit of immunotherapy in sarcomatoid RCC.

Different Treatments of Symptomatic Angiomyolipomas of the Kidney

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.

Genetic Polymorphisms of the TGFB1 Signal Peptide and Promoter Region: Role in Wilms Tumor Susceptibility?

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.

Routine Bone Imaging for Metastatic Renal Cell Carcinoma

Current guidelines by the National Comprehensive Cancer Network recommend that, in addition to routine computed tomography (CT) imaging, bone imaging and brain magnetic resonance imaging (MRI) should be obtained when clinically indicated. In this issue of the Journal of Kidney Cancer and VHL, a systematic literature review of clinical trials of metastatic renal cell carcinoma (mRCC) patients evaluates the incidence of osseous, lymph node and lung metastases. In particular, the analysis focuses on the changes in incidence over time. The study finds that the incidence of bone, lymph node, and lung metastases has increased over time, and that increases is significant in osseous metastases specifically. These results lead to two provocative questions. First, why have osseous metastases increased in incidence over time? Second, does this finding warrant a more aggressive and uniform approach to imaging to identify osseous metastases sooner?

Evolving Patterns of Metastasis in Renal Cell Carcinoma

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.

Predicting Strict Trifecta Outcomes after Robot-Assisted Partial Nephrectomy

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 mul-tivariable 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:ref-erence; 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.