| A case of von Hippel-Lindau (VHL) germline mutation associated with familial bilateral pheomochromcytoma in the VHL disease |
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Jae Hong Yang, Yonung Sik Choi, Yo Han Park, Kyung Seung Oh, Bong Kwon Chun, Sang Jun Lee, IL Jin Kim |
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Department of Medicine, Sungkyunkwan University School of Medicine |
| 증례 : Von Hippel-Lindau 유전자 배선 돌연변이와 동반된 가족성 양측성 갈색 세포종 1예 |
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양재홍&#;최영식&#;박요한&#;오경승&#;천봉권&#;이상준&#;김일진, Yonung Sik Choi, Yo Han Park, Kyung Seung Oh, Bong Kwon Chun, Sang Jun Lee, IL Jin Kim |
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| Abstract |
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Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by multiple benign and malignant tumors of the central nervous system (CNS), retina, kidney, pancreas and adrenal glands. VHL disease is associated with a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. VHL disease has been divided in four subtypes, based on development of different tumors. VHL diseases without pheochromocytoma are classified as type 1, and those with pheochromocytoma type 2. VHL disease type 2 is divided into 2A based on the presence of renal cancer or 2B by the absence of renal cancer, and 2C has pheochromocytoma only.
Recently we experienced a family with VHL type 2A and VHL type 2C who carry a novel type GAT (Asp) to AAT (Asn) missense germline mutation in codon 121 of exon 2 of VHL gene. The authors report this case with literature review.(Korean J Med 69:S873-S878, 2005) |
| Key Words:
Von Hippel-Lindau disease, VHL germline mutation, Pheochromocytoma |
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