J Korean Soc Endocrinol.  2006 Jun;21(3):239-244. 10.3803/jkes.2006.21.3.239.

A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation

• Seo JH
• Yang JH
• Choi PL
• Kim YL
• Choi YS
• Park YH
• Ko JH
• Kang HC
• Kim IJ
• Park JG

• KMID: 2200736
• DOI: http://doi.org/10.3803/jkes.2006.21.3.239

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development of hemangioblastomas of the central nervous system and retina, cysts and clear cell carcinoma of the kidney, cyst adenomas of other organs, and pheochromocytoma. VHL is a tumor suppressor gene on the short arm of chromosome 3. VHL disease has been classified into two main clinical subtypes depending on the presence (type 2) or absence (type 1) of pheochromocytoma. Type 2 has been subdivided into three categories depending on the presence (type 2B) or absence (type 2A) of renal cell carcinoma, with type 2C being a rare subtype in which pheochromocytoma is the sole manifestation of VHL disease. Recently we experienced a family with VHL type 1 who carry C to T (Q73X) transition in codon 217 nonsense germline mutation in exon 1 of VHL gene. The authors report this case with literature review.

MeSH Terms

Adenoma
Arm
Carcinoma, Renal Cell
Central Nervous System
Chromosomes, Human, Pair 3
Codon
Exons
Genes, Tumor Suppressor
Germ-Line Mutation*
Hemangioblastoma
Humans
Kidney
Pheochromocytoma
Retina
von Hippel-Lindau Disease
Codon

Figure

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  Fig. 1 A family pedigree of the patient. Genetic test of the daughter and son of the patient was done. Three girl's elder brother of the patient had a past history of surgery for kidney tumor. Their genetic test was not done.

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  Fig. 2 CT and MR of the patient's daughter show a sharply demarcated and smoothly marginated cystic mass (about 4.5 cm) with a small intensely enhancing mural nodule at posterior fossa.

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  Fig. 3 Ultrasound showing 6.3 cm sized mass at pancreatic head A and 3.3 cm sized isoechoic mass at right kidney B.

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  Fig. 4 Magnetic resonance cholangiopancreatography showing a pancreatic head mass (5 cm sized) with duct dilatation.

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  Fig. 5 Direct sequence analysis of exon 1 of the VHL gene. Germline mutation at exon1 codon 217, C→T (Q73X). A. Wild type (patient's son). B. Index patient. C. Her daughter.

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