Illnessvon Hippel-Lindau syndrome

NGS +

[Sanger]

In hereditary von Hippel-Lindau syndrome (VHL) tumours develop in several organs, such as haemangioblastomas or retinal angiomas, renal cell carcinoma, neuroendocrine pancreatic tumours, adrenal carcinomata or phaeochromocytomas. "Benign" cysts may be found in the kidneys, pancreas, epididymis or fallopian tubes as well as endolymphatic sac tumours in the inner ear. The risks for haemangioblastomas exceed 60%, neuroendocrine tumours occur in about 10% of the mutation carriers in the VHL gene, the inheritance is autosomal dominant. One tenth of the VHL mutations are de novo, VHL mutations can be detected in practically all VHL patients. Penetrance is almost 100% from the age of 65 onwards. CCND1 gene variations can only modify the effects of the VHL gene mutation.

References: https://www.ncbi.nlm.nih.gov/books/NBK1463/

• Alias: Familial cerebelloretinal angiomatosis
• Alias: Lindau disease
• Alias: Retinal, cerebellar tumors, spinal hemangioblast., pheochromocytoma, renal cell + pancreas Ca
• Allelic: Colorectal cancer, susceptibility to (CCND1)
• Allelic: Multiple myeloma, susceptibility to (CCND1)
• Erythrocytosis, familial, 2 (VHL)
• Hemangioblastoma, cerebellar, somatic (VHL)
• Pheochromocytoma (VHL)
• Renal cell carcinoma, somatic (VHL)
• von Hippel-Lindau syndrome (VHL)
• von Hippel-Lindau syndrome, modifier of (CCND1)