ArticleACG case reports journal2026
Diagnosis of Von Hippel-Lindau Syndrome Via Pancreatic Cyst Fluid Next-Generation Sequencing.
Article in ACG case reports journal, 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) 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.
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