From: Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
Family | Mutation | Age | Follow-up | Status pre-test | Status 1st. Screening | Final status§ |
---|---|---|---|---|---|---|
1 | p.F76del | >18 | Y | Affected | 3 Hb, KC | + PC |
>18 | Y | Affected | 3 Hb | Same | ||
>18 | Y | Affected | 4 Hb | Same | ||
<18 | Y | Asymptomatic | Asymptomatic | Asymptomatic | ||
6 | c.99_100InsA* | >18 | Y | Affected | 1 Hb, Bilat RA | Same |
<18 | N | Affected | 4 Hb, Bilat RA, KC, PC | + 1 Hb, ✞ | ||
>18 | N | Affected | 1 Hb, Bilat RA, KC, PC | + 2 RCC | ||
>18 | N | Asymptomatic | 1 Hb | + 1 Hb | ||
<18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
<18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
7 | c.99_100InsA* | >18 | N | Asymptomatic | EC | Same |
<18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
>18 | N | Affected | 1 Hb, 1 RCC, KC, PC | + 1 RCC | ||
<18 | N | Asymptomatic | Asymptomatic | + 1 Hb | ||
>18 | N | Asymptomatic | 3 Hb, KC, PC | + 1 RCC | ||
<18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
>18 | N | Asymptomatic | 1 Hb, KC, PC | Same | ||
>18 | N | Affected | 1 Hb | + 1 Hb | ||
<18 | Y | Affected | 1 Hb | Same | ||
<18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
>18 | N | Asymptomatic | 1 Hb | + KC, PC, 1 RCC | ||
>18 | N | Affected | 1 Hb, KC, PC | Same | ||
<18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
12 | p.D121G | >18 | Y | Affected | 2 Hb, Bilat RA, KC, PC, 1 RCC, 1 pheo | Same |
16 | p.R161X | >18 | N | Affected | 3 Hb, KC, PC | Same |
19 | p.P86S | >18 | N | Affected | 1 Hb, KC, PC, 1 RCC | + 1RCC, 1 Hb, ELST, ✞ |
20 | p.C162F | >18 | Y | Affected | 2 Hb, Unilat RA, KC, PC, 1 pheo | + 1 RCC, 1 pheo |
21 | p.R82P | >18 | Y | Affected | 1 Hb | + 2 Hb, Bilat RA, KC, PC, 1 RCC, ✞ |
22 | c.56_57DupInvCGGGAGGC* | >18 | N | Affected | 1 Hb | Same |
>18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
>18 | N | Asymptomatic | Asymptomatic | Asymptomatic | ||
23 | p.E134X* | >18 | Y | Affected | 2 Hb, Bilat RA, KC, 1 RCC | Same |
>18 | Y | Asymptomatic | Asymptomatic | Asymptomatic | ||
>18 | Y | Asymptomatic | Asymptomatic | Asymptomatic | ||
43 | p.P86S | >18 | Y | Affected | 1 Hb | + 3 Hb, 2 RCC, PCA, 1 Pheo |
53 | p.L89P | >18 | Y | Affected | KC, PC | + 1 Hb |