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Ohn, Kim, Lee, Seo, Hwang-Bo, Hong, Park, and Kim: A Case of von Hippel-Lindau Disease Presenting with Pancreatic Neuroendocrine Tumor
Case Report
Endocrinology and Metabolism

Endocrinology and Metabolism 2011; 26(1): 89-91.

Published online: 31 March 2011

DOI: https://doi.org/10.3803/EnM.2011.26.1.89

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

Jung Hun Ohn, Junghee Kim, Hyun Jung Lee, Won Woo Seo, Yul Hwang-Bo, Eun Shil Hong, Jin Joo Park, Seong Yeon Kim

Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.

Corresponding author: Seong Yeon Kim. Department of Internal Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea. Tel: +82-2-2072-3216, Fax: +82-2-762-9662, seongyk@plaza.snu.ac.kr

Received 28 July 2010       Accepted 14 September 2010

Copyright © 2011 Korean Endocrine Society

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.

Keywords: von Hippel-Lindau Disease, Neuroendocrine Tumors, Pancreas

Figures and Tables

Fig. 1
Abdomen CT of huge pancreatic mass. Abdomen CT shows a huge mass with peripheral hypervascularity and central calcification in pancreatic head.
enm-26-89-g001
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.
enm-26-89-g002

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