Journal of Kidney Cancer and VHL最新文献

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.

Ligustrazine is a Chinese herb (Chuanxiong) approved for use as a medical drug in China. Recent evidence suggests that ligustrazine has promising antitumor properties. Our preliminary results showed that ligustrazine could inhibit the growth of human renal cell carcinoma (RCC) cell lines. However, the complicated molecular mechanism has not been fully revealed. Therefore, the purpose of this study to investigate the mechanism of ligustrazine resistance in human RCC cells. Cell proliferation, migration, invasion, and colony-formation ability of RCC cells A498 were detected by MTT assay, clonal formation rates, and transwell chamber assay in vitro. The expression of epithelial-mesenchymal transition (EMT)-related proteins were analyzed using western blot test. The effect of ligustrazine on the growth of A498 cells in nude mice was investigated in vivo. Our results showed that ligustrazine could significantly inhibit the proliferation, migration, and invasion of A498 both in vivo and vitro. Western blot analysis showed that the expressions of EMT-related, N-cadherin, snail, and slug proteins were significantly decreased in A498 in the ligustrazine treatment group. This study indicated that ligustrazine could significantly inhibit the malignant biological behaviors of RCC cell lines, possibly by inhibiting the EMT process.

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.

Wilms tumor, also denoted as nephroblastoma, an embryonal type of renal cancer, is the most common cancer that affects children in the first 5 years of life. Wilms tumor is very rarely seen in adults. Both adults and children showcase varied clinical symptoms. The metastasis of tumor in both adults and children are not uncommon. Though histological differences between children and adults are insignificant, the prognosis of adult Wilms tumors compared to children is abysmal. Despite remarkable advancements in oncology, no standard treatment protocol exists for Wilms tumor in adults. Children Wilms tumor treatment protocol is currently followed for adults with some changes. In this article, we reviewed the available treatment options for Wilms tumor in adults and protocols followed widely.