Endocrine Abstracts

Introduction: Von Hippel–Lindau syndrome (VHL) is an autosomal dominantly inherited neoplastic disorder with marked phenotypic variability, characterized by a broad spectrum of clinical manifestations in central nervous system (CNS) and viscera. Specific gene mutation can be demonstrated; however imaging plays an important role in diagnosis. 68Ga-labelled somatostatin analog (68Ga-DOTANOC) PET-CT is routinely employed for somatostatin receptor (SSTR) imaging, mainly for neuroendocrine tumors evaluation, but could be an optimal whole body imaging method for screening and follow-up VHL patients.

Purpose: To present 68Ga-DOTANOC-PET-CT findings in three VHL female patients (58, 58 and 65 years old), demonstrating both CNS and visceral tumors.

Material and Methods: 68Ga-DOTANOC-PET/CT scan was acquired 45 min after intravenous administration of 100–200MBq 68Ga-DOTANOC in three patients with VHL referred for pancreatic neuroendocrine tumor (PNET) evaluation. Abnormal findings were correlated with histopathology or other imaging modalities (CT, MR, ophthalmoscopy).

Results: 68Ga-DOTANOC-PET/CT showed, in all patients, other lesions than PNET, which proved to be related to VHL. Retinal and spinal cord hemangioblastomas were detected in two patients. Endolymphatic sac tumor was demonstrated in one. Lung hemangioblastoma was suspected in one. Liver and lymph node metastasis were present in one patient. Two patients had a pheocromocytoma previously removed by surgery.

Discussion: In VHL diagnosis a multidisciplinary approach is mandatory. Although genetic testing is available, imaging plays a key role in the identification of abnormalities, their follow-up and in the screening of asymptomatic gene carriers. Several analytic and imaging modalities are needed for diagnosis and follow-up. Screening is essential because the lesions in VHL disease are treatable. Early detection enables more conservative therapy and may enhance the patient’s length and quality of life. In these three VHL patients, 68Ga-DOTANOC-PET-CT has demonstrated to be a promising whole-body screening high-resolution imaging method for evaluation of the entire picture of this disease.