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.
Maddock I R, Moran A, Maher E R, et al. A genetic register for von Hippel-Lindau disease[J]. J Med Genet, 1996, 33(2): 120-127.
Lonser R R, Glenn G M, Walther M, et al. Von Hippel-Lindau disease[J]. Lancet, 2003, 361(9374): 2059-2067.
Rare Diseases Branch of Beijing Medical Association. Consensus among Chinese experts in the diagnosis and treatment of von Hippel-Lindau disease[J]. Natl Med J China, 2018, 98(28): 2220-2224.
Filling-Katz M R, Choyke P L, Oldfield E, et al. Central nervous system involvement in von Hippel-Lindau disease[J]. Neurology, 1991, 41(1): 41-46.
Walther M M, Choyke P L, Glenn G, et al. Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery[J]. J Urol, 1999, 161(5): 1475-1479.
Poston C D, Jaffe G S, Lubensky I A, et al. Characteriza-tion of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications[J]. J Urol, 1995, 153(1): 22-26.
Charlesworth M, Verbeke C S, Falk G A, et al. Pancreatic lesions in von Hippel-Lindau disease? A systematic review and meta-synthesis of the literature[J]. J Gastrointest Surg, 2012, 16(7): 1422-1428.
Ganeshan D, Menias C O, Pickhardt P J, et al. Tumors in von Hippel-Lindau syndrome: from head to toe-comprehen-sive state-of-the-art review[J]. Radiographics, 2018, 38(3): 849-866.
Leung R S, Biswas S V, Duncan M, et al. Imaging features of von Hippel-Lindau disease[J]. Radiographics, 2008, 28(1): 65-79.
Daniels A B, Tirosh A, Huntoon K, et al. Guidelines for surveillance of patients with von Hippel-Lindau disease: consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance[J]. Cancer, 2023, 129(19): 2927-2940.
de Campos N S P, Souza B S, Da Silva G C P, et al. Carbonic anhydrase Ⅸ: A renewed target for cancer immunotherapy[J]. Cancers (Basel), 2022, 14(6): 1392.
Chatzopoulos K, Aubry M C, Gupta S. Immunohistochemical expression of carbonic anhydrase 9, glucose transporter 1, and paired box 8 in von Hippel-Lindau disease-related lesions[J]. Hum Pathol, 2022, 123: 93-101.
Krall N, Pretto F, Mattarella M, et al. A 99mTc-labeled ligand of carbonic anhydrase Ⅸ selectively targets renal cell carcinoma in vivo[J]. J Nucl Med, 2016, 57(6): 943-949.
Zhu W J, Li X Y, Zheng G Y, et al. Preclinical and pilot clinical evaluation of a small-molecule carbonic anhydrase Ⅸ targeting PET tracer in clear cell renal cell carcinoma[J]. Eur J Nucl Med Mol Imaging, 2023, 50(10): 3116-3125.