Abstract
Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disease caused by a genetic aberration of the tumor suppressor gene VHL and characterized by multi-organ tumors. The most common neoplasm is retinal or cerebral hemangioblastoma, although spinal hemangioblastomas, Renal Clear Cell Carcinoma (RCCC), pheochromocytomas (Pheo), paragangliomas, Pancreatic Neuroendocrine Tumors (PNETs), cystadenomas of the epididymis, and tumors of the lymphatic sac can also be found. Neurological complications from retinal or CNS hemangioblastoma and metastases of RCCC are the most common causes of death. There is a strong association between pheochromocytoma and VHL syndrome, and pheochromocytoma is often a classic manifestation of the syndrome. RCCCs are often incidental and identified during other tests. Between 35 and 70% of patients with VHL have pancreatic cysts. These can manifest as simple cysts, serous cysto-adenomas, or PNETs with a risk of malignant degeneration or metastasis of no more than 8%. The objective of this retrospective study is to analyze abdominal manifestations of VHL from a surgical point of view.
Highlights
In 1894, Collins reported a bilateral incidence of retinal hemangioblastomas in twins, which were referred to as nevi, whereas the German ophthalmologist Von Hippel discussed cases of retinal angiomatosis
Pancreatic Neuroendocrine Tumors (PNETs) comprise only 5% of pancreatic cancers and the association between PNETs and Von Hippel-Lindau disease (VHL) is less than 0.5%
Distant metastases are found in 60–90% of sporadic PNETs, whereas in VHL the incidence of metastases is estimated at 11–20%
Summary
In 1894, Collins reported a bilateral incidence of retinal hemangioblastomas in twins, which were referred to as nevi, whereas the German ophthalmologist Von Hippel discussed cases of retinal angiomatosis. In 1926, the Sweden pathologist Lindau identified an association between the retinal angiomatosis and the hemangioblastomas in the cerebellum. In the 1960s, the disease was termed Von Hippel-Lindau disease (VHL) [1,2,3]. In 1993, it became possible to isolate the gene responsible for the disease, which was named the VHL gene [4,5]. VHL is an autosomal dominant disease caused by genetic aberration of the tumor suppressor gene.
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