All-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT

Area of Science:

• Oncology
• Genetics
• Radiology

Background:

• Von Hippel-Lindau (VHL) disease is an inherited condition characterized by the development of various tumors and cysts.
• It is an autosomal dominant disorder affecting multiple organ systems.
• Tumor types include hemangioblastomas, pheochromocytomas, and renal cell carcinomas.

Purpose of the Study:

• To present a comprehensive case of Von Hippel-Lindau disease.
• To illustrate the diverse clinical manifestations of VHL syndrome in a single patient.
• To highlight the utility of 68Ga-DOTATATE PET/CT in diagnosing VHL components.

Main Methods:

• Case report of a 57-year-old female patient diagnosed with VHL disease.
• Utilized 68Ga-DOTATATE PET/CT imaging for comprehensive assessment.
• Documented the presence of multiple VHL-related pathologies.

Main Results:

• The patient presented with a full spectrum of VHL disease manifestations.
• Confirmed presence of pheochromocytoma, pancreatic neuroendocrine tumor, pancreatic and renal cysts.
• Identified liver hemangioma and a hemangioblastoma in the medulla oblongata.

Conclusions:

• This case underscores the multisystemic nature of VHL disease.
• 68Ga-DOTATATE PET/CT is effective in detecting various VHL-associated tumors and cysts.
• Early and comprehensive diagnosis is crucial for managing VHL syndrome.