Table 1.
Patient Characteristics
| Patient ID # | Sex | Age at NF2 Dx | NF2 mutation | Phenotype Severity | Tumor Burden | VS Surgery Prior to Bev | VS RT Prior to Bev | VS Surgery PostBev | VS RT PostBev | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 40 | N/A | 2 | BL VS | L: Yes | R: No | L: No | R: Yes | L: No | R: No | L: No | R: No |
| 2 | M | 37–47* | Nonsense mutation, p.Arg466Ter, Exon 13 | 2 | BL VS, L petrous ridge mening., r cerebellar mening, r lateral temporal convexity mening | L: No | R: No | L: No | R: No | L: No | R: No | L: No | R: No |
| 3 | M | 0.5 | Nonsense mutation, c.1021C > T, Exon 11 | 3 | BL VS, multiple mening | L: No | R: No | L: No | R: No | L: Yes | R: No | L: No | R: Yes |
| 4 | F | 15 | Deletion, c.855delT | 3 | BL VS, L temporal bone mening, L foramen magnum tumor, R lateral ventricular tumor | L: No | R: No | L: Yes | R: No | L: No | R: Yes | L: No | R: Yes |
| 5 | M | 61 | N/A | 1 | BL VS | L: No | R: Yes | L: Yes | R: No | L: No | R: No | L: No | R: No |
| 6 | F | 35 | (-) Genetic Testing | 2 | BL VS | L: Yes | R: No | L: No | R: No | L: No | R: No | L: No | R: No |
| 7 | M | 18 | Deletion, c.102delG | 2 | BL VS, R C3 schwannoma, T8 intramedullary lesion, T11 schwannoma, multifocal cauda equina most prominent R L5 | L: No | R: Yes | L: No | R: No | L: No | R: No | L: Yes | R: No |
| 8 | M | 15 | Deletion, c.1_11del | 3 | BL VS, multiple meningiomas, L mastoid schwannoma, multiple spinal tumors | L: No | R: No | L: No | R: No | L: No | R: No | L: No | R: No |
| 9 | M | 17 | Substitution, c.364-2A > G | 3 | BL VS, cranial mening, spinal and peripheral disease | L: No | R: No | L: No | R: No | L: No | R: Yes | L: No | R: No |
| 10 | F | 13 | Mosaic NF2 mutation | 2 | BL VS, spinal schwannomas, cavernous sinus schwannoma, T3 intramedullary tumor | L: No | R: No | L: No | R: No | L: No | R: No | L: No | R: Yes |
| 11 | F | 10 | N/A | 3 | BL VS, multiple mening, multiple head/neck schwannomas, multiple spinal tumors, multiple peripheral tumors | L: Yes | R: Yes | L: No | R: No | L: Yes | R: No | L: No | R: No |
| 12 | F | 14 | N/A | 2 | BL VS, C2-3 ependymoma | L: No | R: Yes | L: No | R: No | L: No | R: No | L: No | R: No |
| 13 | F | 53 | N/A | 1 | BL VS | L: No | R: No | L: No | R: No | L: No | R: Yes | L: No | R: No |
| 14 | M | 14 | Deletion, het truncating mutation in NF2 | 2 | BL VS, BL 5th CN tumors, multiple mening and spinal tumors | L: No | R: No | L: No | R: No | L: No | R: No | L: No | R: No |
| 15 | M | 19 | Deletion, NF2 locus that encompasses NIPSNAP1 and the first exon of NF2 | 3 | BL VS, R LCN schwannoma, R brachial plexus lesion, multiple spinal/cutaneous | L: No | R: No | L: No | R: Yes | L: No | R: No | L: No | R: No |
| 16 | F | 26 | N/A | 2 | BL VS, parasag. Mening, R tentorial tumor, multiple spine lesions (cervical, thoracic) and proximal cauda equina | L: No | R: No | L: Yes | R: No | L: No | R: No | L: No | R: No |
| 17 | M | 35 | Deletion, c.1633delG | 2 | BL VS, L Meckel’s cave schwannoma, spinal schwannomas/ependymomas | L: No | R: No | L: Yes | R: No | L: No | R: No | L: No | R: No |
| 18 | M | 32 | N/A | N/A | BL VS, T7-8 mening | L: No | R: Yes | L: No | R: No | L: No | R: No | L: No | R: No |
| 19 | M | 35 | N/A | 2 | L facial schw, R VS, L trigeminal schw, multiple C3/C7/cauda equina tumors, R occipital mass | L: No | R: Yes | L: No | R: No | L: No | R: No | L: No | R: No |
NF2: neurofibromatosis type 2-related schwannomatosis; VS: vestibular schwannoma; Bev: bevacizumab; RT: Radiation therapy; BL: bilateral; multiple: ≥3 discreet areas; mening.: meningioma; L: left; R: right; parasag: parasagittal; schw: schwannoma. Het: heterogenous.
* Specific age given by patient as an estimate, no outside records available to corroborate exact age at diagnosis. Age of “42” used for the purposes of relevant calculations.