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Table 2 Results of genetic testing and tumor surveillance in VHL gene mutation-carriers

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

  1. * Novel mutation. Y = Yes, N = No; Hb = Hemangioblastoma, KC = Kidney cysts, PC = Pancreatic cysts, EC = Epididymal cysts, RCC = Renal cell carcinoma, Pheo = Pheochromocytoma, ELST = Endolymphatic sac tumor, PCA = Pancreatic cancer. ✞ Deceased. §Final status was determined by the results of the most recent surveillance testing or, if the patient had discontinued surveillance final status was determined by phone re-contact or if the patient returned seeking medical attention for new symptoms.