Patient Characteristics
| Total population (n = 22) | ||
| Characteristic | n | % |
| Sex | ||
| Male | 13 | 59 |
| Female | 9 | 41 |
| Age (y) | ||
| Median | 42 | |
| Range | 23–66 | |
| Mutation | ||
| c.-89-?_c.297+?del | 10 | 45 |
| c.500G > A | 5 | 23 |
| c.509T > A | 3 | 14 |
| c.490C > T | 1 | 5 |
| c.340 + 1G > A | 1 | 5 |
| c.241C > T | 1 | 5 |
| IVS1-59del46 (unclassified variant) | 1 | 5 |
| History | ||
| Hemangioblastoma | 22 | 100 |
| Retinal angioma | 15 | 68 |
| Renal cell carcinoma* | 8 | 36 |
| Pancreatic neuro-endocrine tumor | 5 | 23 |
| Pheochromocytoma | 4 | 18 |
| Prior treatment (no. of patients/procedures) | ||
| Craniotomy | 12/28 | 55 |
| Spinal cord hemangioblastoma embolization | 2/2 | 9 |
| Retinal laser/cryotherapy | 14/19 | 64 |
| (Partial) nephrectomy | 8/13 | 36 |
| Adrenalectomy | 4/7 | 18 |
| (Partial) pancreatectomy | 2/2 | 9 |
↵* One patient had a renal cell carcinoma recurrence on regular surveillance at time written informed consent was given and study imaging was already planned. This patient was motivated for study participation.