Table 1 Clinical characteristics of NF2 patients.

From: Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing

 

Total

Truncating

Large deletion

Splice site

Missense

Mosaic

Undetected

Patients (n)

57

12

4

9

3

20

9

Years of follow up (years; mean ± SD)

14.5 ± 6.0

14.3 ± 5.7

13.5 ± 3.6

18.1 ± 7.0

15.3 ± 4.9

13.1 ± 4.8

14.6 ± 8.6

Family history of NF2 ( +)

n (%)

4 (7)

0 (0)

1(25)

2 (22.2)

1(33.3)

0 (0)

0 (0)

Vital status: alive

n (%)

55 (96.5)

10 (83.3)

4 (100)

9 (100)

3 (100)

20 (100)

9 (100)

Sex n (%)

       

 Male

24 (42.1)

6 (50)

2 (50)

6 (66.7)

0 (0)

7 (35)

3 (33.3)

 Female

33(57.9)

6 (50)

2(50)

3(33.3)

3(100)

13(65)

6(66.7)

Age of symptom onset (mean ± sd)

25.5 ± 13.3

13.1 ± 6.0

21.5 ± 5.0

22.2 ± 8.9

27.0 ± 2.6

33.6 ± 14.2

28.7 ± 14.1

Bilateral vestibular schwannoma

n (%)

48 (84.2)

12 (100)

4 (100)

9 (100)

3 (100)

14 (70)

6 (66.7)

Intracranial meningioma n (%)

32 (56.1)

8 (66.7)

1 (25)

6 (66.7)

1 (33.3)

10 (50)

6 (66.7)

Cranial nerve Schwannoma n (%)

27 (47.4)

9 (66.7)

3 (75)

8 (88.9)

1 (33.3)

3 (15)

3 (33.3)

Spinal Schwannoma n (%)

37 (65)

11 (91.7)

3 (75)

8 (88.9)

2 (66.7)

8 (40)

5 (55.6)

Spinal Ependymoma n (%)

13 (22.8)

5 (41.7)

2 (50)

3 (33.3)

0 (0)

3 (15)

0 (0)

Ocular lesion n (%)

13 (22.8)

4 (33.3)

3 (75)

3 (33.3)

0 (0)

1 (5)

2 (22.2)

Cutaneous lesion n (%)

29 (50.9)

12 (100)

4 (100)

9 (100)

3 (100)

1 (5)

0 (0)

Total interventions/pt/year(n; mean ± sd)

0.2 ± 0.2

0.4 ± 0.3

0.1 ± 0.05

0.3 ± 0.3

0.3 ± 0.1

0.1 ± 0.09

0.1 ± 0.1

Cranial surgery/pt/year (n; mean ± sd)

0.1 ± 0.1

0.2 ± 0.2

0.04 ± 0.05

0.2 ± 0.2

0.1 ± 0.08

0.1 ± 0.07

0.1 ± 0.09

Spinal surgery/pt/year (n; mean ± sd)

0.05 ± 0.1

0.1 ± 0.2

0.01 ± 0.02

0.06 ± 0.09

0.01 ± 0.02

0.02 ± 0.03

0.03 ± 0.07

Radiation therapy/pt/year (n; mean ± sd)

0.04 ± 0.06

0.07 ± 0.07

0.07 ± 0.09

0.05 ± 0.06

0.1 ± 0.1

0.01 ± 0.03

0.004 ± 0.01