Journal of Kidney Cancer and VHL最新文献

The utility of partial nephrectomy (PN) in locally advanced, stage T3 renal cell carcinoma (RCC) is controversial. This retrospective study aimed to review the oncological and functional outcomes of patients with T3a RCC who underwent PN. We included all patients with pT3a stage RCC undergoing either open, laparoscopic, or robotic PN at our center between January 2015 and 2023. A Wilcoxon rank sum test was utilized to compare nephrectomy types (radical nephrectomy [RN] vs PN). Survival analysis was conducted using Kaplan-Meier plots and a log-rank test. P-value < 0.05 indicated statistical significance. There were no significant differences in demographic characteristics between the RN and PN groups, except age (53.0 vs 6.5, respectively; P = 0.012) and body mass index (28.7 vs 34.3, respectively; P = 0.020). Furthermore, there were also no significant differences in the rates of local recurrence (P = 0.597), metastatic progression (P = 0.129), and chemotherapy use (P = 0.367) between nephrectomy types. Patient survival did not differ significantly based on the type of nephrectomy (log-rank P-value = 0.852). Together, our findings indicated that PN and RN yield near-equivalent oncological outcomes in terms of local recurrence, metastasis, and overall survival rates among pT3a RCC patients during a nearly 3-year follow-up period.

Papillary renal cell carcinoma (PRCC) is the second most common histological subtype of renal cell cancer. This research aims to present a large database study highlighting the demographic, clinical, and pathological factors, racial disparities, prognosis, and survival of PRCC. The clinical and demographic data were extracted from the Surveillance, Epidemiology, and End Results (SEER) database, and molecular data was cured from the Catalogue Of Somatic Mutations in Cancer (COSMIC) database. PRCC had a median age of diagnosis at 64 years, with a higher incidence in men (77%), and Whites (68%). 70.3% of cases were Grades I-IV (13, 53, 31, and 3%, respectively). In patients with known data, 85% were localized to the kidney, and 84% of cases were 7 cm in size. No metastasis occurred in 97% of the known data. The most common treatment offered was surgical resection (9%). The 5-year overall survival was 79%, with patients undergoing surgery having a 90.6% 5-year survival. Multivariable analysis revealed age > 60 years, Black race, poor histologic differentiation, distant metastases, and tumor size > 10 cm as independent risk factors for mortality. The most common mutations identified from the COSMIC database were MET, KMT2D, KMT2C, ARID1A, and SPEN. PRCC affects male individuals in the sixth decade of life. Increased age, Black race, distant metastases, and tumors > 10 cm are associated with a worse prognosis. Surgical resection offers a favorable survival outcome. Next-generation sequencing (NGS) could identify potentially targetable alterations and future personalized therapeutic approaches.

This retrospective study aims to describe the characteristics of renal cell carcinoma (RCC) in Saudi Arabia, in terms of epidemiology, clinical presentation, tumor subtype, Fuhrman grade, tumor size and stage, and overall survival. A total of 431 adult patients with a histopathological diagnosis of RCC between 2015 and 2023 were included in the analysis. Most patients (72.4%) had clear cell tumors, followed by chromophobe (15.1%) and papillary (12.5%) subtypes. In males, papillary RCC (85.2%) was more common compared to clear cell (59.8%) and chromophobe (67.7%) subtypes. Significant differences were observed in median body mass index (BMI) across tumor subtypes, and papillary tumor patients exhibited the highest incidence of hematuria (33.3%) compared to other subtypes. The Fuhrman grade also varied significantly among RCC types. Survival times were found to be lower for patients with papillary tumors. No significant difference was observed based on patients' nationality. This study can inform clinical decision-making on patient prognosis and management as well as public health efforts aimed at reducing the alarming rise of RCC incidence.

A third of patients with renal cell carcinoma (RCC) present with metastatic disease. Metastasis in RCC from small renal mass (SRM) (≤4 cm) is rare. We report a case of stage cT1a clear-cell RCC with low-risk features on pathology presenting with disproportionately large synchronous solitary metastasis to the transverse colon. He underwent resection of the mass with the involved transverse colon and adjoining mesocolon. Intestinal continuity was restored, following which partial nephrectomy was performed for the right renal tumor. Final pathology of the right renal mass confirmed clear-cell RCC. The large mass after immunohistochemistry profile confirmed metastasis from the renal tumor.

Our study aims to discern the immediate and intermediate-term oncological outcomes of the patients with small renal mass and who were surgically unfit or were having a bilateral tumor and underwent radiofrequency ablation (RFA) of the mass. We retrospectively and prospectively analyzed the status of the patients who were diagnosed to have small renal masses and were biopsy-proven renal cell carcinoma (RCC) cases, who underwent RFA at our institute from the year 2013 to 2022. Patients were followed-up for 3 years. Data regarding complications were analyzed for all patients who underwent renal RFA along with the 3-year recurrence-free survival (RFS) rate. A total of 28 patients were eligible for the study based on our inclusion and exclusion criteria. Their renal function was recorded. They underwent RFA and were followed-up for a period of 3 years for RFS. Four patients out of the total had immediate complications, out of which two developed a hematoma. Three-year-follow-ups showed six recurrences, overall having 78.6% RFS. Post-procedural renal function was stable as documented by Estimated glomerular filtration rate. Oncological results of RFA in patients with small renal masses who are surgically unfit are associated with a low risk of immediate and intermediate-term deterioration of renal function.

Translocation and transcription factor E3 (TFE3)-rearranged renal cell carcinoma (RCC) is a rare subtype of RCCs characterised by the fusion of the TFE3 transcription factor genes on chromosome Xp11.2 with one of the multiple genes. TFE3-rearranged RCC occurs mainly in children and adolescents, although middle-aged cases are also observed. As computed tomography (CT)/magnetic resonance imaging (MRI) findings of TFE3-rearranged RCC overlap with those of other RCCs, differential diagnosis is often challenging. In the present case reports, we highlighted the features of the fluorine-18-labelled fluorodeoxyglucose positron emission tomography with CT (FDG PET-CT) in TFE3-rearranged RCCs. Due to the rarity of the disease, FDG PET-CT features of TFE3-rearranged RCC have not yet been reported. In our cases, FDG PET-CT showed high standardised uptake values (SUVmax) of 7.14 and 6.25 for primary tumours. This might imply that TFE3-rearranged RCC has high malignant potential. This is conceivable when the molecular background of the disease is considered in terms of glucose metabolism. Our cases suggest that a high SUVmax of the primary tumour is a clinical characteristic of TFE3-rearranged RCCs.

Non-clear cell renal cell carcinoma (nccRCC) is a heterogeneous group of malignancies that represents 25% of renal cell carcinoma (RCC) cases. Treatment for non-clear cell histologies is mostly based on evidence from small phase II clinical trials or extrapolated from successful therapies in clear cell RCC because of the low incidence of non-clear cell pathology. Advances in genomic profiling have improved clinicians' understanding of molecular targets for nccRCC, such as altered mesenchymal epithelial transition (MET) gene status and fumarate hydratase (FH) gene inactivation, but patient outcomes remain poor and optimal management of this disease remains unclear. This review assesses outcomes by histologic subtype from 27 prospective and 13 ongoing clinical trials to identify therapeutic strategies for advanced or metastatic nccRCC. Vascular endothelial growth factor tyrosine kinase inhibitors (TKI), such as sunitinib, and mammalian target of rapamycin (mTOR) inhibitors, such as everolimus, have demonstrated efficacy and remain viable treatment options, with a preference for sunitinib. However, everolimus is preferred in patients with chromophobe RCC because folliculin (FLCN) gene mutations upregulate the mTOR pathway. Novel TKIs, such as cabozantinib, show improved outcomes in patients with papillary RCC because of targeted MET inhibition. Platinum-based chemotherapy continues to be the recommended treatment strategy for collecting duct and medullary RCC. Clinically meaningful antitumor activity has been observed across all non-clear cell histologies for immune checkpoint inhibitors, such as nivolumab, pembrolizumab, and ipilimumab. Ongoing trials are evaluating novel tyrosine kinase inhibitor and immunotherapy combination regimens, with an emphasis on the promising MET-inhibitor cabozantinib and pembrolizumab plus lenvatinib.

Primary neuroendocrine tumors (NET) of the kidney are rare. They present with varied symptoms, making their diagnosis difficult clinically as well as pathologically. We present to you the case of a renal NET, which presented in a young female patient. A 48-year-old female patient came with an incidentally detected right renal mass during the evaluation of a nonspecific gynecological problem. She underwent contrast-enhanced computed tomography (CT) of the abdomen, which showed a 57*45*34 mm mass with enlarged retrocaval and aortocaval nodes (25*12 mm). Renal cell carcinoma was suspected as per the CT findings, and metastatic workup in the form of FDG PET CT was done in view of the unusually enlarged nodes. She underwent robot-assisted radical nephrectomy along with lymph node dissection. Surgery was uneventful, and she recovered well in the postoperative period. In the final pathology, there was confusion regarding the diagnosis, and further immunohistochemistry (IHC) was recommended by the pathologist. IHC showed synaptophysin positive, chromogranin negative, CD56 focally positive with Ki-67 of 2-3%, which was suggestive of low-grade NET of the kidney. Lymph nodes were negative. She was kept on follow-up and a Ga 68-DOTANOC scan at 3 months showed no evidence of disease. Diagnosis and management of NET of the kidney still remains a debatable and controversial topic in view of its rarity. High index of suspicion needs to be observed in patients presenting with carcinoid syndrome and a renal mass. Nuclear scans like PET scan and DOTANOC scan can accurately stage the disease. Management includes partial or radical nephrectomy depending on the tumor characteristics. Further studies are required to optimize the treatment protocols for these patients.

Multiorgan tumors are a hallmark of the autosomal dominant genetic disorder known as Von Hippel-Lindau syndrome (VHL), which is typically the result of inherited aberrations of the VHL tumor suppressor gene. The most frequent cancer is retinoblastoma, which can also occur in the brain and spinal cord, renal clear cell carcinoma (RCCC), paraganglioma, and neuroendocrine tumors. There may also be lymphangiomas, epididymal cysts, and pancreatic cysts or pancreatic neuroendocrine tumors (pNETs). The most frequent causes of death are metastasis from RCCC and neurological complications from retinoblastoma or central nervous system (CNS). Pancreatic cysts are present in 35-70% of VHL patients. Simple cysts, serous cysts, or pNETs are possible presentations, and the likelihood of malignant degeneration or metastasis is no greater than 8%. Although VHL has been associated with pNETs, their pathological characteristics are unknown. Furthermore, it is unknown whether variations in the VHL gene cause the development of pNETs. Hence, this retrospective study was undertaken with the main aim to examine whether pNETs are connected to VHL from a surgical perspective.