Table 1 Clinical characteristics of NF2 patients.
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 |