Endocrinol Metab.  2011 Mar;26(1):89-91. 10.3803/EnM.2011.26.1.89.

A Case of von Hippel-Lindau Disease Presenting with Pancreatic Neuroendocrine Tumor

• Ohn JH
• Kim J
• Lee HJ
• Seo WW
• Hwang-Bo Y
• Hong ES
• Park JJ
• Kim SY

• KMID: 2169131
• DOI: http://doi.org/10.3803/EnM.2011.26.1.89

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that results from a germline mutation of the VHL gene. The affected individuals might develop several benign or malignant tumors such as central nervous system or retinal haemangioblastomas, endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas or pancreatic cysts and neuroendocrine tumors. We report here on a case of a 21 year old female with von Hippel-Lindau disease and she presented with only pancreatic neuroendocrine tumor and no evidence of haemangioblastomas or other visceral complications. Further, direct sequencing of the VHL gene reveals a novel germline frameshift mutation of codon 198 from the deletion of nucleotide 592 (cytosine), leading to truncation of the VHL protein.

Keyword

von Hippel-Lindau Disease; Neuroendocrine Tumors; Pancreas

MeSH Terms

Carcinoma, Renal Cell
Central Nervous System
Codon
Endolymphatic Sac
Female
Frameshift Mutation
Germ-Line Mutation
Humans
Neuroendocrine Tumors
Pancreas
Pancreatic Cyst
Pheochromocytoma
Retinaldehyde
von Hippel-Lindau Disease
Codon
Retinaldehyde

Figure

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  Fig. 1 Abdomen CT of huge pancreatic mass. Abdomen CT shows a huge mass with peripheral hypervascularity and central calcification in pancreatic head.

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  Fig. 2 VHL gene mutation. Sequencing of the VHL gene reveals a novel germline frameshift mutation of codon 198 from deletion of nucleotide 592 (cytosine), leading to truncation of the VHL protein.

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