Journal of Kidney Cancer and VHL最新文献

Renal cell carcinoma (RCC) accounts for 3% of all adult cancers and 85% of all kidney tumours. Incidence of RCC is lower in Asian region, particularly in India, probably due to lack of reporting. Most of the data about RCC are from Western countries; and data from India are scarce, especially regarding para-neoplastic syndromes. We sought to determine the epidemiology, clinicopathological profile and management of RCC in a tertiary care centre in Western India. This was a retrospective study that involved data analysis of records of RCC patients who presented to our institution from April 2016 to February 2020. Laboratory investigations, including tests for paraneoplastic syndrome (PNS), and relevant radiologic investigations were performed and treatment was offered according to the stage, patient factors and available modalities. A total 142 RCC patients were included in the study. The median age of presentation was 58 years. Most of the patients (67%) were symptomatic, and 33% of the patients were asymptomatic, and the RCC was diagnosed incidentally. A large number of patients (56.3%) had PNS. The most common histopathologic type of RCC was clear cell carcinoma (68.8%), followed by papillary (20%) and chromophobe (8%) carcinoma. 40% of carcinomas with sarcomatoid differentiation were seen in patients under 50 years of age. Two cases of multicystic RCC were both seen in patients less than 50 years of age. 65.5% of the patients presented at Stage 1 and 2. Most surgeries (71.2%) were done in a minimally invasive manner. A significant number of patients were asymptomatic, in which RCC was detected incidentally. The age of presentation was earlier, yet the patients had a higher tumour stage. More than half of the patients had PNSs. Despite growing trend towards Western data, the significantly higher number of patients with PNSs and early age of presentation suggest inherent differences in tumour biology, possibly related to differences in genetic and environmental factors.

Multiple combinational regimens have recently been approved and are now considered the standard of care for patients with advanced clear cell renal cell carcinoma (RCC). Several additional combinational regimens are deep in clinical assessment and are likely to soon join the crowded front-line therapeutic landscape. Most of these regimens are combinations of agents already approved as single-agents in RCC including tyrosine kinase inhibitors (TKI) and immune checkpoint inhibitors. While these new front-line regimens are associated with reliably high response rates and prolonged survival, complete and durable remissions remain limited to a small subset of patients and the vast majority of patients continue to require subsequent therapy. The need for the continued development of novel agents in RCC persists and efforts have focused on agents targeting the molecular biology of clear cell RCC and novel immunotherapies including cytokines. In this review, we discuss the progress in the development of these novel therapies in the context of the evolving standard of care for patients with advanced clear cell RCC.

Involvement of the adrenal gland in kidney cancer represents a unique site of metastasis with a distinct clinical course. The cases are typically resistant to immune therapy and need local therapy management. A case series of patients with adrenal metastases was reviewed to highlight the nuances of clinical course and therapy. We reviewed renal cancer carcinoma (RCC) cases with adrenal metastases at Karmanos Cancer Center, Detroit MI. Medical records were reviewed to collect relevant case information. Next-generation sequencing, tumor mutation burden testing, and programmed death ligand biomarkers were evaluated in five cases. Twelve cases were reviewed; all were males with a median age of 49.5 years. Three patients presented with adrenal metastases only and were treated with local therapy. Three received interleukin-2 (IL-2). One patient relapsed with bilateral adrenal lesions after 11 years of remission, post-IL-2 therapy. Five cases received immune checkpoint inhibitor (ICI) and one received antivascular therapy. ICI therapy was followed by ablation of residual adrenal metastases in three patients. Genomic profiling was available in five cases. All were BAP1 and PD-L1 negative.Pathogenic mutations in PBRM1, SETD2, and VHL were noted. All patients with residual adrenal metastases responded to antivascular therapies or to local ablation. One patient died 17 years after diagnosis and 11 patients are alive at a median follow-up of 9.5 years. Adrenal metastases in RCC have a distinct clinical course. They can represent a sanctuary site of relapse/residual disease following treatment with immune therapy. Management with local therapy can induce durable remissions. Systemic management with antivascular therapies also demonstrated favorable responses. Further investigation should focus on the unique clinical course and optimal management of adrenal metastases in kidney cancer.

The primitive neuroectodermal tumor (PNET) of the kidney is an extremely rare neoplasm, the diagnosis of which mainly depends upon histopathology, immunohistochemistry (IHC), and cytogenetics. A handful of cases reported in the literature mention about aggressive features of this neoplasm. The purpose of our study was to review our experience in not only the diagnosis and management of the patients with renal PNET but also to highlight its propensity to involve inferior vena cava (IVC) and also present a rare occurrence of Ewing's sarcoma (ES)/PNET of the renal pelvis. The clinical, operative, and histopathology records of four patients of renal PNET treated between January 2017 and December 2019 were reviewed and data analyzed concerning the available literature. Out of the four patients treated, two had level III and IV IVC thrombus, and one had dense desmoplastic adhesions with the IVC wall. One of the cases had a rare presentation of ES/PNET of the renal pelvis. All patients were managed surgically, while only one patient received adjuvant chemotherapy and following up with remission for the last 2 years and 4 months. On IHC, cluster of differentiation-99 (CD-99) was positive in all patients, and three were positive for Friend leukemia integration-1. PNET of the kidney is primarily an immunohistopathological diagnosis. This neoplasm has an increased propensity for the local invasion of surrounding structures. A multimodality approach with surgery, chemotherapy, and radiotherapy could offer better outcomes, although the prognosis of these tumors remains poor.

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

Pathologic characteristics of extirpated renal cell carcinoma (RCC) specimens <7 cm were reviewed to get better information on technical nuances of renal mass biopsy (RMB). Specimens were stratified according to tumor stage, nuclear grade, size, histology, presence of lymphovascular invasion (LVI), necrosis, and sarcomatoid features. When considering pT1 (0-7 cm) tumors, pT1b (4-7 cm) RCC masses were more likely to have necrosis (43% vs 16%, P < 0.001), LVI (6% vs 2%, P = 0.024), high-grade nuclear elements (29% vs 17%, P < 0.001), and sarcomatoid features (2% vs 0%, P = 0.006) compared with pT1a (0-4 cm) tumors. Additionally, pT3a tumors were more highly associated with necrosis (P = 0.005), LVI, sarcomatoid features, and high-grade disease (P for all < 0.001) when compared to pT1 masses. For masses <4 cm, pT3a cancers were more likely to demonstrate necrosis (38% vs 16%, P < 0.001), LVI (22% vs 2%, P < 0.001), high-grade nuclear elements (45% vs 17%, P < 0.001), and sarcomatoid features (12% vs 0%, P < 0.001) compared to pT1a tumors. Similarly, for masses 4-7 cm, pathologic T3a tumors were significantly more likely to have sarcomatoid features (12% vs 2%, P = 0.006) and LVI (22% vs 6%, P = 0.003) compared to pT1b tumors. In summary, pT3a tumors and those RCC masses >4 cm exhibit considerable histologic heterogeneity and may harbor elements that are not easily appreciated with limited renal sampling. Therefore, if RMB is considered for renal masses greater than 4 cm or those that abut sinus fat, a multi-quadrant biopsy approach is necessary to ensure adequate sampling and characterization of the mass.

Renal cell carcinoma (RCC) with invasion into the renal vein is well described; however, invasion into the gonadal vein is a rare event with less than five cases reported in the literature. RCC occasionally presents with metastasis to the ovaries or the fallopian tubes, although this is also a rare occurrence. We present a case of locally advanced left RCC with direct extension into the ipsilateral gonadal vein with extension into the bilateral ovaries and uterus, which has not been previously described. Computed tomography (CT) in a 72-year-old female with a 35-pound weight loss indicated the presence of a 16-cm left renal mass with caudal tumor extension through the left gonadal vein and regional lymphadenopathy. There was no evidence of distant metastasis, and she underwent an open left radical nephrectomy. Intraoperatively, she was found to have direct extension of the tumor through the left gonadal vein into the uterus, bilateral ovaries, and the left fallopian tube. All visible disease was resected, and retroperitoneal and pelvic lymphadenectomy were performed. The patient had an uneventful hospital course. Pathology revealed clear cell RCC, Fuhrman grade 3. The final pathologic stage was pT4N1M1. The patient was ultimately noted to have pulmonary metastasis and was treated with immunotherapy with no evidence of disease progression.

Aim: "To evaluate oncological and surgical outcomes of different levels of tumor thrombus and tumor characteristics secondary to renal cell carcinoma (RCC)".

Materials and methods: Retrospective review from 2013 to 2020 of 34 patients who underwent radical nephrectomy with thrombectomy for RCC with tumor thrombus extending into the inferior vena cava (IVC) and right atrium (RA) at our center. Level I and most level II tumors were removed using straight forward occluding maneuvers with control of the contralateral renal vein. None of the patients had level III tumor extensions in our study group. For level IV thrombus, a beating heart surgery using a simplified cardiopulmonary bypass (CPB) technique was used for retrieval of thrombus from the right atrium.

Results: " Of the 34 patients with thrombus", 19 patients had level I, 12 patients had level II, none had level III, and three patients had level IV thrombus. Two patients required simplified CPB. Another patient with level IV thrombus CPB, was not attempted in view of refractory hypotension intraoperatively. Pathological evaluation showed clear-cell carcinoma in 67.64%, papillary carcinoma in 17.64%, chromophobe in 5.8%, and squamous cell carcinoma in 8.8% of cases. Left side thrombectomy was difficult surgically, whereas right side thrombectomy did not have any survival advantage. Mean blood loss during the procedure was 325 mL, ranging from 200 to 1000 mL, and mean operative time was 185 min, ranging from 215 to 345 min. The immediate postoperative mortality was 2.9%. Level I thrombus had better survival compared to level II thrombus.

Conclusion: Radical nephrectomy with tumor thrombectomy remains the mainstay of treatment in RCC with inferior venacaval extension. The surgical approach and outcome depends on primary tumor size, location, level of thrombus, local invasion of IVC, any hepato-renal dysfunction or any associated comorbidities. The higher the level of thrombus, the greater is the need for prior optimization and the adoption of a multidisciplinary approach for a successful surgical outcome.