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VHL Syndrome Clear Cell RCC Risk — ESENeph MCQ

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HardChronic Kidney DiseaseVHL Syndrome Clear Cell RCC RiskESENeph

A 26-year-old woman presents with episodic flank pain, haematuria, and bilateral renal cysts on ultrasound. She also has cerebellar ataxia and retinal angiomas. Genetic testing reveals a VHL gene mutation. What renal pathology is she at highest risk for?

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Correct answer: E — Clear cell renal cell carcinoma

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant tumour predisposition syndrome caused by VHL tumour suppressor gene mutations on chromosome 3p25. Patients develop multiple clear cell renal cell carcinomas (often bilateral and multifocal), haemangioblastomas (cerebellar, spinal, retinal), phaeochromocytomas, and pancreatic neuroendocrine tumours. The VHL protein normally targets hypoxia-inducible factor (HIF) for degradation; loss of VHL causes constitutive HIF activation, promoting angiogenesis and cell proliferation. Renal surveillance with MRI or CT is recommended from age 16, with nephron-sparing surgery for tumours >3 cm using the 3 cm rule to preserve renal function.

Reference: Lonser et al 2003 – VHL Disease NEJM; JRCPTB 2022 – Nephrology Curriculum