Different manifestations detected with 68Ga-DOTATOC PET/CT in patients with Von Hippel-Lindau disease: A case report

Introduction

von-Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome caused by mutations in VHL tumor expressor gene on chromosome 3 [1]. VHL disease is characterized by the development of a variety of benign and malignant tumors. About 40 different lesions in 14 different organs have been described, including pheochromocytomas, epididymal cystadenomas, retinal and central nervous system hemangioblastomas, renal cysts and tumors, endolymphatic sac tumors, and pancreatic cysts [2]. The total systemic number of VHL manifestations rises linearly, with an average of seven VHL-related manifestations at age 60 years [3]. A specific imaging tool for detecting all synchronous VHL-related disease could avoid invasive biopsies.

Publication History

Article published online:
19 March 2020

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