Table 1 Patient characteristics
Patient | |||||
|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | |
Presentation | |||||
Age at diagnosis | 35 | 18 | 23 | 19 | 23 |
Sex | M | M | F | M | F |
Diagnostic delay (year) | 2 | 0 | 0 | 7 | 14 |
Pain (1/0) | 1 | 1 | 1 | 1 | 1 |
Number of symptomatic body sites (N) | 1 | 1 | 4 | 2 | 1 |
Segmental form (1/0) | 0 | 1 | 0 | 0 | 1 |
Diagnosis | |||||
Two or more non-intradermal tumors suggestive of schwannomas (1/0) | 1 | ± | 1 | 1 | 1 |
History of bilateral vestibular schwannomas (1/0) | 0 | 0 | 0 | 0 | 0 |
Family history of schwannomatosis (1/0) | 0 | 0 | 0 | 0 | 0 |
Histology-proven schwannomas (N) | 2 | > 2 | > 4 | 2 | > 3 |
Genetic | |||||
Mutation | No mutation found in SMARCB1/INI1, LZTR1, NF2 | N/A | p.Tyr35del gene SMARCB1/INI1 | N/A | p.Arg362* gene LZTR1 |