Table 1 Patient characteristics with clinical, genetic and histological features.
|  | General Cohort (n = 269) | SMO (n = 1; 0.3%) | AKT1 (n = 28; 10.4%) | KLF4 (n = 16; 5.9%) | POLR2A (n = 17; 6.3%) | NF2 + 22q loss (n = 87; 32.3%) | NF2 (n = 19; 7.1%) | 22q loss (n = 53; 19.7%) | Not detected (n = 48; 17.8%) |
|---|---|---|---|---|---|---|---|---|---|
Age (year) (mean ± SD) | 58.0 ± 2.2 | 59.9 | 57.3 ± 2.4 | 56.2 ± 3.3 | 51.6 ± 3.2 | 59.5 ± 1.4 | 53.7 ± 3.0 | 61.2 ± 1.8 | 58.7 ± 0.9 |
Sex | |||||||||
Female | 192 (71.3%) | 0 (0) | 20 (7.4%) | 10 (3.7%) | 17 (6.3%) | 58 (21.6%) | 16 (5.9%) | 37 (13.8%) | 34 (12.6%) |
Male | 77 (28.6%) | 1 (0.3%) | 9 (3.3%) | 6 (2.2%) | 0 (0) | 29 (10.8%) | 3 (1.1%) | 16 (5.9%) | 14 (5.2%) |
Localization | |||||||||
Anterior | 18 (6.7%) | 1 (0.3%) | 8 (3.0%) | 0 (0.3%) | 1 (0.0%) | 2 (0.7%) | 0 (0) | 0 (0) | 6 (2.2%) |
Central | 76 (28.3%) | 0 (0) | 12 (4.5%) | 11 (4.1%) | 10 (3.7%) | 17 (6.3%) | 3 (1.1%) | 8 (3.0%) | 15 (5.6%) |
Lateral | 25 (9.3%) | 0 (0) | 6 (2.2%) | 4 (1.5%) | 0 (0) | 5 (1.9%) | 0 (0) | 4 (1.5%) | 6 (2.2%) |
Posterior | 28 (10.4%) | 0 (0) | 2 (0.7%) | 0 (0) | 2 (0.7%) | 11 (4.1%) | 2 (0.7%) | 6 (2.2%) | 5 (1.9%) |
ST-med | 56 (20.8%) | 0 (0) | 0 (0) | 1 (0.3%) | 0 (0) | 29 (10.8%) | 5 (1.9%) | 15 (5.6%) | 6 (2.2%) |
ST-ant/lat | 39 (14.5%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 14 (5.2%) | 5 (1.9%) | 16 (5.9%) | 4 (1.5%) |
ST-post/lat | 3 (1.1%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (0.3%) | 2 (0.7%) |
Cerebellar tentorium | 24 (8.9%) | 0 (0) | 0 (0) | 0 (0) | 4 (1.5%) | 9 (3.3%) | 4 (1.5%) | 3 (1.1%) | 4 (1.5%) |
Localization (embryological) | |||||||||
Neural crest | 144 (53.5%) | 0 (0) | 6 (2.2%) | 5 (1.9%) | 4 (1.5%) | 57 (21.2%) | 14 (5.2%) | 38 (14.1%) | 20 (7.4%) |
Paraxial mesoderm | 97 (36.1%) | 1 (0.3%) | 20 (7.4%) | 11 (4.1%) | 11 (4.1%) | 19 (7.1%) | 3 (1.1%) | 9 (3.3%) | 23 (8.6%) |
Dorsal mesoderm | 28 (10.4%) | 0 (0) | 2 (0.7%) | 0 (0) | 2 (0.7%) | 11 (4.1%) | 2 (0.7%) | 6 (2.2%) | 5 (1.9%) |
WHO grade | |||||||||
I | 243 (90.3%) | 1 (0.3%) | 27 (10.4%) | 16 (5.9%) | 17 (6.3%) | 76 (28.3%) | 18 (6.7%) | 43 (16.0%) | 45 (16.7%) |
II | 26 (9.7%) | 0 (0) | 1 (0.3%) | 0 (0) | 0 (0) | 11 (4.1%) | 1 (0.3%) | 10 (3.7%) | 3 (1.1%) |
III | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
MIB-1 LI (mean ± SD) | 3.1 ± 0.2 | 3 | 2.1 ± 0.7 | 1.7 ± 0.9 | 1.2 ± 0.9 | 3.9 ± 0.4 | 2.6 ± 0.8 | 3.6 ± 0.5 | 2.8 ± 0.5 |
Simpson grade | |||||||||
1 | 50 | 0 | 5 | 1 | 0 | 15 | 6 | 15 | 8 |
2 | 115 | 0 | 15 | 5 | 9 | 35 | 9 | 18 | 24 |
3 | 30 | 1 | 1 | 4 | 2 | 9 | 3 | 7 | 3 |
4 | 53 | 0 | 7 | 6 | 6 | 16 | 1 | 7 | 11 |
5 | 3 | 0 | 0 | 0 | 0 | 2 | 0 | 1 | 0 |
Follow up (years) | 4.2 ± 0.2 | 1.3 | 3.3 ± 0.7 | 4.3 ± 1.0 | 3.8 ± 1.0 | 3.8 ± 0.4 | 4.0 ± 0.9 | 4.3 ± 0.5 | 5.1 ± 0.6 |
Recurrence | 51 (19.0%) | 1(100%) | 3(10.3%) | 2 (12.5%) | 5 (29.4%) | 22(25.6%) | 2 (10.5%) | 10(19.2%) | 6 (12.5%) |
