Table 1 Clinical manifestations of VHL disease in carriers of the Ser80Ile mutation and/or the Pro25Leu variant and in those with clinically proven VHL-associated tumors
Family member (age, years) | Renal cell carcinoma (age at presentation, years) | Brain heman-gioblastoma (age at presentation, years) | Pheochromo-cytoma (age at presentation, years) | Retina heman-gioblastoma (age at presentation, years) | Other clinical manifestations | Result of genetic screening |
|---|---|---|---|---|---|---|
II/1 (70) | - | - | - | - | - | Pro25Leu Ser80Ile |
III/6 (44) | - | - | - | - | - | Pro25Leu |
II/5 (63) | + bilateral (45) | - | - | - | Â | ND |
III/1* (42) | + bilateral (40) | + (42) | + (34) | - | - | Ser80Ile |
III/7 (47) | - | + (37) | - | + (18) | - | Ser80Ile |
III/8 (39) | - | + (38) | + (39) | + (29) | - | Ser80Ile |
IV/13 (27) | - | + (22) | - | + (23) | renal cysts (20) | Ser80Ile |
IV/14 (26) | - | - | + bilateral (10) | + (26) | - | Ser80Ile |
IV/16 (16) | - | - | - | - | - | Ser80Ile |