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Endocrinol Metab : Endocrinology and Metabolism


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Junghee Kim  (Kim J) 1 Article
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
Endocrinol Metab. 2011;26(1):89-91.   Published online March 1, 2011
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AbstractAbstract PDF
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.


Citations to this article as recorded by  
  • Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    Sena Hwang, Cheol Ryong Ku, Ji In Lee, Kyu Yeon Hur, Myung-Shik Lee, Chul-Ho Lee, Kyo Yeon Koo, Jin-Sung Lee, Yumie Rhee
    Journal of Human Genetics.2014; 59(9): 488.     CrossRef

Endocrinol Metab : Endocrinology and Metabolism