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

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.