Distinctive clinicopathological features of Von�Hippel‑Lindau‑associated hereditary renal cell carcinoma: A single‑institution study

Abstract

Von Hippel-Lindau (VHL) disease is a genetic syndrome that involves the development of tumors in numerous organs. The kidney is one of the most frequently affected organs, and patients with VHL and renal tumors require repeated nephrectomy. The present study aimed to further determine the clinicopathological characteristics of patients with VHL-associated renal cell carcinoma (RCC), which may allow more rational clinical treatment decisions. This study included 27 patients with VHL who underwent radical or partial nephrectomy at the Peking University First Hospital between January 2010 and April 2018. The clinicopathological characteristics and prognosis of the patients were retrospectively reviewed. The expression of RCC-associated molecular markers was evaluated by immunohistochemistry. The mean size of the renal tumors was 4.3±2.0 cm (range 1.3–9.5 cm). The pathological type in 26 cases (96.3%) was clear cell RCC (CCRCC), whereas only one patient was diagnosed with CCRCC and clear cell papillary RCC. Renal cysts with a clear cell lining were observed, and RCC cell clusters were scattered in renal cyst cavities. Among the 27 patients, 21 (77.8%) were diagnosed with stage IA/T1N0M0, according to Tumor-Node-Metastasis staging, and 16 (59.3%) had grade 1 tumors. The mean postoperative follow-up duration was 39.0±24.0 months (range, 1.7–96.5 months). No metastasis or VHL-associated mortality was observed. VHL-associated RCC is a relatively low-risk disease, and a tumor size of 4 cm was determined as a threshold for nephron-sparing surgery. In addition, to prevent tumor cell dispersion, renal cysts should be carefully treated. A comprehensive understanding of the clinicopathological characteristics and underlying mechanisms of RCC associated with VHL syndrome may improve patient prognosis.

Association of hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism with renal cell carcinoma and prostate cancer susceptibility: a meta-analysis

“…The screening projection for PCa is still unclear and recent large clinical trials have failed to exert notable reduction in the prostate-specific mortality and the all-cause mortality [6]. The current evidence shows that RCC and PCa are Von Hippel-Lindau tumor suppressor (VHL)-related cancers [7][8][9][10]. VHL protein is an E3 ubiquitin ligase that targets hypoxia inducible factor 1α (HIF1α) to the proteasome for degradation [11].…”