J Korean Surg Soc.  2009 Oct;77(4):287-290. 10.4174/jkss.2009.77.4.287.

Pancreatic Cyst in von Hippel-Lindau Disease

• Sohn BS
• Cho CE
• Park IY

• KMID: 1464889
• DOI: http://doi.org/10.4174/jkss.2009.77.4.287

Abstract

The von Hippel-Lindau (VHL) disease is an autosomal dominant disorder by germline mutation of VHL tumor suppressor gene. The affected patients mainly develop cancers of the central nervous system, renal cell carcinoma, pheochromocytoma, and pancreatic cysts. Pancreatic involvement was observed 12~77% in VHL patients and included true cysts, serous cystadenomas, and neuroendocrine tumors. We experienced two cases of pancreatic cyst of the von Hippel-Lindau disease and reviewed associated literatures.

Keyword

von Hippel-Lindau disease; Pancreatic cyst

MeSH Terms

Carcinoma, Renal Cell
Central Nervous System
Cystadenoma, Serous
Genes, Tumor Suppressor
Germ-Line Mutation
Humans
Neuroendocrine Tumors
Pancreatic Cyst
Pheochromocytoma
von Hippel-Lindau Disease

Figure

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  Fig. 1 MRI (T2 weighted imaging); cystic mass in cerebellum (arrow).

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  Fig. 2 Pedigree of Patients. Mother and two daughters are VHL gene positive. Mother and one daughter have pancreatic cysts. The other daughter has sensory neural hearing loss.

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  Fig. 3 Gene study. Mother and two daughters have a mutation of 257 nucleotide.

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  Fig. 4 Abdominal CT showed 1 cm sized pancreatic cyst in body and tail (arrow). There are no lesions in liver and spleen.

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  Fig. 5 Brain MRI showed there was a cystic tumor in the inferior aspect of Lt. cerebellum by 3×4×3.5 cm size (arrow).

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  Fig. 6 Abdominal CT findings are multiple cysts in pancreas head portion diameter 5 cm in size, with internal serous material (black arrow) and distal pancreas portion has multiple cysts (white arrow).

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