Diagnosis of Von Hippel-Lindau Syndrome Via Pancreatic Cyst Fluid Next-Generation Sequencing

Von Hippel-Lindau (VHL) syndrome is a rare autosomal-dominant tumor predisposition syndrome characterized by benign and malignant neoplasms across multiple organ systems. We report a case where next-generation sequencing (NGS) of pancreatic cyst fluid resulted in the first diagnostic clue to VHL. A 44-year-old woman presented with subarachnoid hemorrhage from cervical hemangioblastoma and incidental finding of multiple pancreas cysts. Endoscopic ultrasound with fine-needle aspiration was performed and standard cyst fluid analysis was nondiagnostic, but cyst fluid NGS identified a pathogenic VHL mutation. This case highlights the utility of cyst fluid NGS in uncovering hereditary cancer syndromes when conventional analyses are inconclusive.