"vHL often presents with symptomatic haemangioblastoma in a young patient, e.g. headache, vomiting, ataxia, sensory and motor deficits or visual loss 17. Phaeochromocytoma can cause hypertension, but it is often non-functioning."
"A germline variant in the VHL tumour suppressor gene (chromosome 3p25-26) encodes the VHL protein, part of a complex that degrades hypoxia-inducible factor alpha (HIFα), which is a driver of abnormal cell proliferation, angiogenesis, and tumour formation 17. Inheritance is autosomal dominant with high expressivity and penetrance, though disease requires somatic inactivation of the remaining wild-type allele. Approximately 80% of cases occur via this pathway, with ~20% arising de novo 10,15."
"A germline variant in the VHL tumour suppressor gene (chromosome 3p25-26) encodes the VHL protein, part of a complex that degrades hypoxia-inducible factor alpha (HIFα), which is a driver of abnormal cell proliferation, angiogenesis, and tumour formation 17. Inheritance is autosomal dominant with high expressivity and penetrance, though disease requires somatic inactivation of the remaining wild-type allele. Approximately 80% of cases occur via this pathway, with ~20% arising de novo 10,15."
"Most lesions from vHL are treatable and surveillance is recommended with various regional guidelines 10. Some experts advocate routine screening starting in adolescence. Belzutifan, an HIF-2α inhibitor, can be used for patients with CNS and/or retinal haemangioblastomas and RCC in VHL disease that do not require immediate surgery 15,17."
"Most lesions from vHL are treatable and surveillance is recommended with various regional guidelines 10. Some experts advocate routine screening starting in adolescence. Belzutifan, an HIF-2α inhibitor, can be used for patients with CNS and/or retinal haemangioblastomas and RCC in VHL disease that do not require immediate surgery 15,17."
Expected headings
"Abdominopelvic"
"Urogenital"
"CNS"
"Head and neck"
"can be simple, complex or cystic renal cell carcinoma 10"
"cerebellar (~60%; range 44-72%); spinal cord (~30%; range 13-50%) - most commonly in the cervical and thoracic cord; brainstem (~12.5%; range 10-25%)"
"cerebellar (~60%; range 44-72%); spinal cord (~30%; range 13-50%) - most commonly in the cervical and thoracic cord; brainstem (~12.5%; range 10-25%)"
"cerebellar (~60%; range 44-72%); spinal cord (~30%; range 13-50%) - most commonly in the cervical and thoracic cord; brainstem (~12.5%; range 10-25%)"
"cerebellar (~60%; range 44-72%); spinal cord (~30%; range 13-50%) - most commonly in the cervical and thoracic cord; brainstem (~12.5%; range 10-25%)"
"cerebellar (~60%; range 44-72%); spinal cord (~30%; range 13-50%) - most commonly in the cervical and thoracic cord; brainstem (~12.5%; range 10-25%)"
"peritumoural cysts of CNS haemangioblastomas are due to increased vascular permeability which outstrips the resorptive capacity of the surrounding brain; the cysts often grow much faster than the tumour"
"bilateral in 30% 10; considered pathognomonic for vHL 9"
"type 2 vHL: high risk for phaeochromocytoma; some VHL protein function retained"
"type 2A: high-risk for phaeochromocytoma; low-risk for renal cell carcinoma"