Von Hippel-Lindau (VHL) disease is an autosomal dominant
genetic disease in which various neoplastic lesions occur in multiple organs. Reported here is a case of VHL disease with concurrent
renal cell carcinoma and endocrine
pancreatic cancer. The patient was a 43-year old woman. On this occasion, the patient had sought treatment from her local physician, complaining chiefly of yellowing of the skin and bulbar conjunctiva. Abdominal ultrasound and computed tomography scans revealed a mass in the right kidney and a mass in the pancreatic head. Peripheral blood genetic analysis revealed an Arg/stop heteroconjugative mutation in
codon 113 in exon 1 of the VHL gene on the short arm of chromosome 3 (p25-26). After various tests were performed, the patient was diagnosed with right
renal cell carcinoma, malignant
tumor of the pancreatic head, and multiple
pancreatic cysts accompanying
von Hippel-Lindau disease. Right
nephrectomy and
pancreatoduodenectomy were performed. Based on the histopathological results, the patient was diagnosed with right
renal cell carcinoma and highly differentiated endocrine
pancreatic cancer. Immunohistologically, a large number of atypical cells were found to be positive for both anti-
chromogranin and
anti-synaptophysin antibodies in the endocrine
tumor. Immunostaining for each type of gut
hormone was also performed, but all results were negative. Based on the above findings, nonfunctioning, highly differentiating
endocrine cancer was diagnosed. This is the first confirmed case of
renal cell carcinoma and endocrine
pancreatic cancer occurring concurrently with VHL. This is an important case, so it is presented here along with a short discussion of the literature.