| pubmed-article:10735135 | pubmed:abstractText | Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited syndrome with high penetrance, characterised by tumours in various organs. The Dutch VHL working group presents guidelines for DNA testing and clinical monitoring, to enhance early detection and treatment of VHL patients in the Netherlands. Diagnosis of VHL is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a VHL tumour and a negative family history may also have VHL. Diagnosis of VHL can be confirmed by molecular genetic analysis of the VHL gene which is informative in virtually all VHL families. In a patient with (suspicion for) VHL there is an indication for genetic counselling. A protocol for clinical monitoring of VHL is presented and is recommended for: carriers of a VHL germline mutation; members of VHL families with an unknown familial mutation; members of VHL families who decline testing of the familial mutation; patients suspected for VHL, but without a detectable VHL gene mutation. | lld:pubmed |
