Von Hippel-Lindau (VHL) disease is an inherited tumour syndrome, caused by a mutation in the VHL tumour suppressor gene encoding the VHL protein. Patients are prone to cysts and neuroendocrine tumours in the pancreas and other benign and malignant neoplasms. Pancreatic cysts occur in approximately 70% of VHL patients. We describe two cases of VHL disease with extensive multi-cystic changes affecting the whole pancreas, both patients had deletions of exon 23 of the VHL gene. Imaging findings showed extensive cystic disease replacing all normal pancreatic parenchyma. The cystic disease has been stable on surveillance imaging on MRI and endoscopic ultrasound examinations, and there were no features of pancreatic neuroendocrine tumours on somatostatin receptor imaging or evidence of solid tumours. Remarkably despite the absence of normal pancreatic tissue on imaging, to date, there is no clinical or biochemical evidence of pancreatic dysfunction. Our cases highlight the preservation of normal exocrine and endocrine function despite cysts replacing normal parenchyma in VHL patients. VHL should be considered in the differential diagnosis of multiple pancreatic cysts, especially in young patients and those without a history of pancreatic disease. Surveillance can be difficult in these cases as changes in cyst size can occur even with benign cystic disease. Surgery may be indicated when the cystic disease leads to symptoms due to mass effect.
02 Dec 2019
UK and Ireland Neuroendocrine Tumour Society