Journal of Kidney Cancer and VHL最新文献

Enhancing renal masses are conventionally treated as malignant unless proven otherwise due to the difficulty distinguishing between malignant and benign tumors based on imaging. Data from the Western registries suggests overtreatment of renal tumors with a Benign Kidney Tumor Resection Rate (BKTRR) ranging from 10 to 33%, with an increasing trend. Since robust, population-based data from India was unavailable, we sought to determine BKTRR in an apex cancer institute, which would provide insight into the rates in the community. The institutional kidney tumor database was queried for all patients aged ≥18 years with renal neoplasms between January 2000 and December 2022. Patients who underwent surgery, either radical or partial nephrectomy, with intent to cure were analyzed and the BKTRR during the study period was evaluated. A total of 330 patients underwent surgery for renal tumors presumed to be malignant. A final pathologic diagnosis of the benign tumor was made in 16 (4.8%) patients, comprising 7.2, 7.2, and 3.7% of resections with LTD ≤4, 4-7, and >7 cm, respectively. Asymptomatic benign tumors ≤7 cm comprised 3.0% of all resections, and these were potentially unnecessary surgeries. A multivariable analysis suggested that no patient or imaging characteristic could predict a final benign extirpative pathology. Our study suggests a lower rate of BKTRR compared to the published international literature but is likely to be the lower limit of that in the community. Population-based studies are required to determine the true BKTRR and the quantum of potentially unnecessary surgeries for benign kidney tumors.

Germ cell tumor (GCT) is a neoplasm typically found in childhood, commonly originating from the testis or ovary. While there have been reported cases of GCT occurring in various extragonadal sites, primary intrarenal GCT is exceptionally rare. We present a case of 37-year-old male who presented with right upper abdomen pain. Imaging revealed a sizable mass within the right kidney. The patient underwent surgical resection of the renal mass during which there was perirenal infiltration into the duodenum and dense desmoplastic reaction all around. Subsequent histopathology confirmed the diagnosis of primary intrarenal nonseminomatous germ cell tumor (NSGCT). The patient underwent four cycles of adjuvant bleomycin, etoposide, and cisplatin (BEP) chemotherapy; at 6 months of follow-up, he is fine. The objective of this case report is to underscore the importance of considering NSGCT as a potential rare differential diagnosis in cases of renal neoplasms and further plan for the management.

Chromophobe renal cell carcinomas (ChRCCs) have a good prognosis and comprise approximately 5-7% of renal cell carcinomas (RCCs). The sarcomatoid differentiation in RCC is found in around 5-10% of cases; however, in ChRCC, it is much less than in other RCCs and poorly responds to chemotherapeutic agents. A study by de Peralta-Venturina et al. found 9% sarcomatoid differentiation in chromophobe RCC. We present the case of a 58-year-old female with a left abdominal mass diagnosed as ChRCC with the existence of sarcomatous differentiation including osteosarcomatous and chondrosarcomatous, which are of adverse prognosis. Osteosarcoma-like divergent differentiation in RCC is extremely rare, with limited documented cases. It should be carefully considered in evaluating and managing renal masses due to its potential impact on clinical outcomes.

Adenoid cystic carcinoma (ACC) is a rare tumor, accounting for 1% of all head and neck cancers, with an aggressive nature characterized by local recurrence, delayed metastasis, and survival of less than 50% at 10 years. This is a case of biopsy-proven ACC to the kidney, 1 of 29 known occurrences, managed by metastasectomy by robotic-assisted nephrectomy, with plans for resection of lung metastasis. Thirteen years after diagnosis of sinonasal ACC treated with resection, the patient presented with shortness of breath. This prompted a CT scan of the chest, which led to the incidental finding of left renal mass and pulmonary lesion. Literature suggests improved disease-specific survival in locoregional recurrence treated with surgery versus radiation; in patients with metastasis to the lung, metastasectomy offers greater survival benefit than supportive therapy. But, this is not significantly better than chemotherapy or radiation alone. While the optimal therapeutic approach remains to be identified in distant metastatic ACC, metastasectomy remains a viable option for patients who have potentially completely resectable metastatic tumors, appropriate performance status, and adequate affected-organ function. Preoperative counseling should include discussion on partial nephrectomy with prioritization of nephron-sparing but potential for increased perioperative risk versus radical nephrectomy to ensure negative margins and expedite timeline to systemic therapy.

Clinical trials for immunotherapy-based regimens in metastatic renal cell carcinoma (mRCC) have extensive inclusion and exclusion criteria. We investigated the clinical outcomes in a real-world cohort of patients who would not have met the criteria for inclusion in front-line mRCC trials. Patients treated with ipilimumab/nivolumab and axitinib/pembrolizumab for front-line mRCC were identified and divided into clinical trial eligible (CTE) and clinical trial ineligible (CTI) cohorts based on key inclusion or exclusion criteria from their respective Phase-3 registration trials. Clinical outcomes were compared in CTE and CTI cohorts. A total of 62 patients treated with axitinib/pembrolizumab and 103 treated with ipilimumab/nivolumab were identified. The International Metastatic RCC Database Consortium (IMDC) criteria were similar across CTE and CTI patients in axitinib/pembrolizumab and ipilimumab/nivolumab cohorts. In the axitinib/pembrolizumab cohort (n = 62), 24 (39%) patients were CTI. The major reasons for the ineligibility were lab abnormalities (n = 11), histology (n = 9), and brain metastases (n = 3). There was no significant difference in response rates (P = 0.08). The median progression-free survival (PFS) was numerically longer in CTE patients (28 vs 12 months; P = 0.09). The overall survival (OS) was higher in the CTE patients (P = 0.02). In the ipilimumab/nivolumab cohort (n = 103), 59 (57%) were CTI. The most common reasons for ineligibility were brain metastases (n = 18), lab abnormalities (n = 16), and histology (n = 16). There was no significant difference in response rates (P = 0.22). However, PFS (P = 0.003) and OS (P < 0.0001) were higher in the CTE patients. In conclusion, many real-world patients are ineligible for RCC clinical trials and had worse outcomes when compared to trial-eligible patients. Additional treatment options are needed for these patients, as well as strategies to include them in prospective trials.

This report recounts the diagnostic workup of a pediatric female who presented with hematuria secondary to a large renal mass visualized on abdominal imaging. Histologic assessment and subsequent immunohistochemistry studies were performed. Intense, unequivocal immunohistochemical expression of TFE3 and alpha-methylacyl-CoA-racemase with corresponding negativity for carbonic anhydrase IX, along with highly distinctive clinical, radiologic, gross, and microscopic findings confirmed the diagnosis of a renal cell carcinoma with TFE3 gene rearrangement - the first ever reported case in the Philippines. This case highlights the vital role and significant diagnostic impact of reliable, affordable and accessible immunohistochemistry studies in low-resource settings where molecular modalities for evaluating rare diseases are largely unavailable. Recognition of distinctive morphologic, immunohistochemical, and cytogenetic features in childhood and adolescent renal malignancies allows for the timely institution of therapeutic interventions for this aggressive entity.

Although rare in adults, Wilms tumor is the most common pediatric renal tumor. Treatment typically involves radical nephrectomy followed by adjuvant chemotherapy or radiation, although outcomes differ between children and adults which may be due to challenges in accurately diagnosing these patients. In this article, we present a case report of an adult patient with Jeune syndrome and multiple urologic abnormalities who underwent radical nephrectomy for a large renal mass and was subsequently diagnosed with an epithelial predominant Wilms tumor. Epithelial predominant Wilms tumor may have distinct origins from other Wilms tumor histological subtypes and may incur better outcomes. Herein, we discuss the literature surrounding this rare entity as well as the anticipated treatment course.

Renal cell carcinoma (RCC) is the most common solid tumor in the kidney (90%), accounting for about 3% of all cancers in adults. Partial nephrectomy (PN) is the surgical procedure primarily used for the treatment of localized kidney tumors. Two commonly used terms to describe the complexity and success of a partial nephrectomy procedure are "trifecta" and "pentafecta." Trifecta is defined as Warm ischemia time (WIT) ≤ 25min or Cold ischemia time (CIT) ≤ 60min, Negative surgical margin (NSM), and no perioperative Clavien-Dindo complications (CDC) of Gr 3 or more [8], whereas pentafecta is defined as trifecta plus >90% preservation of e-Glomerular filtration rate (GFR) and no increase in chronic kidney disease (CKD) stage at 12-months post-operative period. We retrospectively analyzed all patients who underwent partial nephrectomy at a single high-volume tertiary centre, from 2012 to 2020. We included patients who underwent partial nephrectomy by any of the three routes including open (OPN), laparoscopic (LPN), or robotic-assisted (RPN), and in which the follow-up data was available. We compared the trifecta and pentafecta outcomes across the three surgical modalities. We had a total of 183 patients in our study. Twenty-nine percent (53 patients) underwent open surgery, 12.6% (23 patients) underwent laparoscopic surgery and 58.5% (107) underwent robotic assisted surgery. The number of patients who fell under the low risk category in the RENAL scoring system were 70(38.3%), intermediate risk 79 (43.2%) and high risk 34 (18.6%). In the high risk RENAL score group, trifecta was achieved in 5 (50%) patients in OPN, 1(50%) in LPN and 7(31.8%) in RPN with no statistically significant difference (p = 0.581) whereas pentafecta was achieved in 3 (30%) patients in OPN, 1 (50%) in LPN and 7 (31.8%) in RPN with no statistically significant difference (0.855). In the overall cohort, mean WIT, mean hospital stay and mean EBL were higher in OPN as compared to LPN and RPN which was statistically significant (p < 0.001), whereas there was no statistical difference in mean operative time between the three modalities (p = 0.580). Renal tumors can be safely treated by RPN or LPN with lesser morbidity as compared to OPN. Trifecta and Pentafecta outcomes had no significant difference among OPN, LPN, and RPN. RPN and LPN may be considered feasible and safe surgical approaches ensuring good functional outcomes.

We report the case of a 38-year-old man with two von Hippel-Lindau disease-associated T1a renal cell carcinomas (RCCs) (<2 cm in diameter) which developed into a 2.5-cm solitary diaphragmatic metastatic tumor. After diagnosis using percutaneous biopsy, the diaphragmatic metastasis and two RCCs were treated by laparoscopic resection and percutaneous cryoablation, respectively. One year after treatment, the patient survived without local recurrence or distant metastasis. This report describes a rare case of RCC metastasis in VHL disease and its treatment.

Thromboembolic events (TE) are a common complication in patients with metastatic renal cell carcinoma (mRCC) and are associated with poorer clinical outcomes. However, the incidence of TE and clinical and genomic characteristics of patients with mRCC who develop this complication are poorly understood. Herein, we describe the incidence and clinical features of patients with mRCC with or without TE at our institution, and examine their association with the underlying genomic and transcriptomic characteristics of the tumor. This retrospective study included all consecutive cases of mRCC seen at our institution. A CLIA-certified lab performed tumor genomics and transcriptomics. Patients were classified based on the presence of a TE within the first year of diagnosis. Three hundred and seventy patients with mRCC were included in the study. TE was seen in 11% (42) of the patients. Patients with favorable International mRCC Database Consortium (IMDC) risk were less likely to develop a TE. In contrast, patients receiving combination treatment with a tyrosine kinase inhibitor (TKI) and an immune checkpoint inhibitor were more likely to develop a TE. No difference in overall survival among patients with or without TE was observed (52 vs. 55 months; HR 0.85, 95% CI 0.5574-1.293, p = 0.24). The most upregulated pathways in mRCC with TEs versus those without were the xenobiotic metabolism and mTORC1 signaling pathways. Our findings suggest potential biomarkers that, after external validation, could be used to better select patients who would benefit from prophylactic anticoagulation.