Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors

TL;DR

A young woman with von Hippel-Lindau disease had multiple tumors, revealing new insights into genetic mutations and the importance of genetic testing.

Contribution

A deletion mutation in the VHL gene was found in a patient with pheochromocytoma, challenging prior assumptions about mutation prevalence.

Findings

A deletion mutation in exon 3 of the VHL gene was identified in a patient with pheochromocytoma.

The case highlights the need to consider hereditary syndromes in patients with multi-system tumors and hypertension.

Comprehensive genetic testing and familial screening are critical for managing VHL disease.

Abstract

This report presents a case involving a young female patient diagnosed with von Hippel-Lindau (VHL) syndrome. The patient developed multiple sequential tumors, including spinal cord hemangioblastoma, multiple pancreatic cysts, and pheochromocytoma. Whole-genome sequencing identified a deletion mutation in exon 3 of the VHL gene, challenging the previous understanding that VHL deletion mutations are highly prevalent in hemangioblastoma and renal cell carcinoma but uncommon in pheochromocytoma. This case underscores the importance of considering hereditary genetic syndromes in patients presenting with hypertension and multi-system tumor involvement. Comprehensive evaluation, standardized familial screening, and genetic testing play a crucial role in guiding treatment decisions for affected individuals.

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