VHL (von Hipple-Lindau) syndrome is a rare autosomal dominant genetic disease with complex and diverse clinical manifestations, which primarily presents as multiple tumors in the retina, central nervous system, kidneys, pancreas, and other areas. Patients often require comprehensive multi-organ assessment. Carbonic anhydrase Ⅸ (CAⅨ) is ubiquitously expressed in VHL-related lesions, and 68Ga-NY104, a novel small-molecule tracer, can perform whole-body imaging of CAⅨ-positive lesions. This case report introduces a 32-year-old female patient with VHL syndrome who underwent sequential 18F-FDG PET/CT and 68Ga-NY104 PET/CT for lesion assessment. Notably, 68Ga-NY104 PET/CT demonstrated uptake in a broader range of lesions (including renal, pancreatic, hepatic metastatic lesions and cerebellar lesions). This article discusses the process of evaluating the relevant lesions in this patient, with the aim of exploring a "one-stop" evaluation tool for patients with VHL syndrome.
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