A Novel Von Hippel–Lindau Case With Germline Mutation at Codon 167 (CGG to TGG) Having Endocrine Microadenomatosis of the Pancreas

Abstract

Endocrine tumors of the pancreas are uncommon. They occur in approximately 1 in 100,000 of the population and represent 1–2% of all pancreatic neoplasms. The tumors show no significant gender predilection and occur at all ages, with a peak incidence between 30 and 60 years. Some may be part of the multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau (VHL) disease. Microadenomatosis represents the presence of multiple small endocrine tumors in the pancreas [1]. Microadenomatosis of the endocrine pancreas is a hallmark of MEN1 syndrome [2, 3]. Interestingly, this condition is rarely described in a non-MEN1 setting [4, 5]. We herein report a unique case of pancreatic microadenomatosis occurring in a nonfamilial VHL disease patient with renal cell carcinoma (RCC). Moreover, genetic analysis for the VHL gene showed a missense mutation at the codon 167 (Arg167Trp, heterozygous) in this case. The type of VHL mutation has been reported to correlate with the clinical manifestations of the disease [6–9], and we also discuss this issue.