A Case of von Hippel-Lindau Disease Presenting with Pancreatic Neuroendocrine Tumor
Endocrinology and Metabolism
; : 89-91, 2011.
Article
在 Ko
| WPRIM
| ID: wpr-34097
Responsible library:
WPRO
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.
Key words
全文:
1
索引:
WPRIM
主要主题:
Pancreas
/
Pancreatic Cyst
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Pheochromocytoma
/
Retinaldehyde
/
Codon
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Carcinoma, Renal Cell
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Central Nervous System
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Endolymphatic Sac
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Frameshift Mutation
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Neuroendocrine Tumors
限制:
Female
/
Humans
语言:
Ko
期刊:
Endocrinology and Metabolism
年:
2011
类型:
Article