Table 1

Results for overall VHL penetrance and manifestation of its components, phaeochromocytoma, angiomatosis retinae, and haemangioblastoma of the brain and spine. Penetrance at 35 and 70 years was estimated by cumulative incidence functions eliminating the competing risk of death without syndrome manifestation

Overall VHL penetrance Phaeochromocytoma Angiomatosis retinae Haemangioblastoma of the spine Haemangioblastoma of the brain
Investigated subjects12511811591111
Genetically confirmed subjects11110910878108
No lesion29 (23%)63 (53%)74 (64%)58 (64%)93 (84%)
Patients with tumour(s)96 (77%)55 (47%)41 (36%)33 (36%)18 (16%)
Females/males with tumour(s)54/4324/3123/1818/1512/6
Asymptomatic38 (30%)25 (21%)28 (24%)30 (33%)6 (5%)
Symptomatic59 (47%)30 (25%)13 (11%)3 (3%)12 (11%)
Estimated overall penetrance at 35 y48%31%28%8%5%
Estimated overall penetrance at 70 y88%60%46%49%38%