Von Hippel–Lindau syndrome with multiple neuroendocrine neoplasms as the initial manifestation - a case report of an elusive presentation

Background: Von Hippel–Lindau (VHL) syndrome is a rare genetic tumor characterized by the recurrent development of multiple benign or malignant tumors involving multiple organs throughout a patient’s life. It is easy to precisely diagnose when the patient has characteristic central nervous system hemangioblastomas (CNS-H) as the main manifestation.VHL disease can be classified into type 1,2A,2B, and 2C based on the type of gene mutation and tumor occurrence. Case presentation This paper presents a case of a 29-year-old female patient who presented with multiple retroperitoneal tumors as the primary manifestation of her condition. Following surgical intervention, pathological examination confirmed the presence of multiple paraganglioma-pheochromocytoma (PCC/PGL) and pancreatic neuroendocrine tumors. Subsequent brain magnetic resonance imaging (MRI) revealed the presence of a small, highly vascularized nodule in the cerebellum, which was strongly indicative of a hemangioblastoma based on imaging characteristics. The VHL germline mutation was confirmed through molecular testing, and the final diagnosis was multiple neuroendocrine neoplasms in VHL type 2B. Conclusion: The patient had VHL syndrome with multiple neuroendocrine tumors as the initial manifestation, which can be easily overlooked during clinical and pathological diagnosis.Therefore, young patients with multiple tumors should essentially be thoroughly examined to determine the relationship between the diseases. Furthermore, pathologists need to be knowledgeable about tumors that arise from different gene mutations and consider the patient’s family history. This strategy will enable early diagnosis, timely treatment, and effective prevention of this disease.