ArticleFrontiers in oncology2026
Case Report: Diagnosis and treatment report and literature review of 2 cases of VHL-deficient renal cell carcinoma.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Von Hippel-Lindau (VHL) disease is a rare familial autosomal dominant disorder with an incidence rate of approximately 1 in 36,000. It primarily results from mutations or inactivation of the VHL tumor suppressor gene located on chromosome 3p25-p26. The hallmark of this disease is hereditary hemangioblastoma, which can affect multiple organs and systems, including the brain (commonly infratentorial), spinal cord, retina, and internal organs such as the kidneys, adrenal glands, and pancreas. Less commonly, lesions may include papillary cystadenomas and endolymphatic sac tumors (ELST), which can form in the epididymis or broad ligament. The leading causes of death in these patients are hemangioblastomas and renal cell carcinoma of the central nervous system. Due to the multidisciplinary nature of the disease, diagnosis and management require a multidisciplinary team (MDT) consultation and collaboration among various specialties. Clinical diagnosis, genetic implications, and prognosis must be assessed comprehensively, with genetic testing confirming the diagnosis. Cases of VHL are exceptionally rare in clinical practice, and there remains a significant unmet need for effective treatments, particularly in rare tumors. Misdiagnosis and mistreatment are common, and repeated surgical interventions can exacerbate kidney damage. Early and accurate diagnosis, followed by proactive treatment, can significantly improve prognosis. Recently, our department admitted two patients with VHL-deficient renal cell carcinoma. Through surgery, radiofrequency ablation, and subsequent targeted therapy, the therapeutic outcomes were highly favorable. This report introduces the treatment of these two cases and provides a literature review on the current progress in the diagnosis, treatment, and prognosis of VHL-deficient renal cell carcinoma. Additionally, it discusses data on the screening of VHL patients and their close relatives, while emphasizing the optimization of individualized management for renal cell carcinoma to enhance the understanding, diagnosis, and treatment of the disease.
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