Adults with multiple meningiomas and other NF2 features or a family history of NF2
Pt | Sex | Age at Dx/last exam (years) | Number and location of meningiomas | Presenting symptom | Other NF2 features | Family history | Mutation |
---|---|---|---|---|---|---|---|
*Family history in first degree relative of multiple meningiomas. | |||||||
†Deceased. | |||||||
‡Tumour analysed. | |||||||
Patients 3–11 have meningioma(s) plus other disease features of NF2. Patients 14–17 have multiple meningiomas without other disease features of NF2, but have family members who were diagnosed with NF2 after their own diagnosis of multiple meningioma. Patients 18–50 have multiple meningiomas without other disease features of NF2. | |||||||
BVS, bilateral vestibular schwannoma; CVA, cerebrovascular accident; Dx, diagnosis; exam, examination; F, female; M, male; NA, data not available; NF2, neurofibromatosis 2; pt, patient. | |||||||
3* | F | 20/30† | 5 cranial | Headaches | 9 cutaneous tumours | Son (patient 4) | Not found |
5 | M | 42/56† | 10 cranial | Weakness/wasting | Ependymoma | Son with BVS | 169 C>T in son |
9 | F | 51/55 | 10 cranial | Seizures | 2 cutaneous and 1 spinal schwannoma | None | Mosaic for 1228 C>T‡ |
11 | M | 30/30 | 3 cranial | Seizures | 4 cutaneous and 1 spinal schwannoma | None | Not found |
14 | M | 36/36† | 2 cranial | Weakness/wasting | None | Son with BVS | Not found in son |
15 | M | 26/26† | 9 cranial | Headache/seizures | None | Two daughters with BVS | 448-1 G>A |
16 | F | 52/70† | 5 cranial | Seizures | None | Daughter with BVS | None found in tumour‡ |
17* | M | 50/59† | 3 cranial | Headaches | None | Brother with meningioma/astrocytoma, nephew with BVS | Does not carry nephew’s 1048 C>T mutation‡ |
18 | F | 27 | Multiple cranial | NA | None | None | Not found |
22* | F | 31/31 | 1 spinal | Pain | None | Daughter with spinal meningioma at age 15 | Not found |
23* | F | 22 | 2 spinal | Pain | None | Two sisters with spinal Meningiomas | Nil on tumour analysis‡ |
24* | F | 41 | 2 spinal | NA | None | Mother with multiple spinal Tumours | Not found |
25* | F | 29/54 | 2 cranial | NA | None | Two sisters with meningiomas at ages 47 and 56, niece with meningiomas at age 10 | Not found |
26 | F | 50 | Multiple cranial | NA | NA | None | Not found‡ |
27 | M | 24/33 | 5 in posterior fossa and lower cranial nerves | Swallowing difficulties | 12th nerve palsy | None | 613 G>A and LOH in tumour‡ |
28 | M | 28 | Multiple cranial | NA | None | None | Not found |
29 | M | 62 | 3 cranial | NA | None | None | Not found |
30 | F | 55 | 2 cranial | NA | None | None | Not found |
31 | M | 36 | 4 cranial | NA | None | None | Not found |
32 | F | 34/37 | 3 cranial | NA | None | None | Not found |
33 | M | 72 | 3 cranial | NA | None | None | Not found |
34 | F | 26 | 3: skull base, orbita1, C2 | Visual loss | None | None | Not found |
35 | F | 26 | 3 cranial | NA | None | None | Not found |
36 | F | 54 | 2: orbital and sphenoid wing | Visual loss | None | None | Not tested |
37 | F | 43/56 | 4 in left-sided cerebral hemisphere | Headaches | None | None | Not found |
38 | F | 49/51 | 3 cranial and 2 spinal | NA | None | None | Not found |
39 | F | 44 | 4 cranial | Pain | Cervical ependymoma | None | Not found |
40 | F | 59/62 | 5 in vault and falx | Seizure | None | None | Not found |
41 | M | 35/45 | 4 cranial | Ptosis | None | None | Not found |
42 | M | 28 | Multiple cranial | NA | None | None | Not found |
43 | M | 47 | Multiple cranial | NA | None | None | Not found |
44 | F | 39 | Multiple cranial | NA | None | None | Not found |
45 | F | 50 | Multiple cranial | NA | None | None | Not found |
46 | M | 57 | 5: bilateral optic sheath and fossa, parasagittal and temporal | Visual loss at age 19, CVA at age 57 | None | None | Not found |
47 | F | 39 | Multiple cranial | NA | None | None | Not found |
48 | F | 49 | Multiple cranial | NA | None | None | Not found |
49 | F | 53 | Multiple cranial | NA | None | None | Not found |
50 | F | 47 | Multiple cranial | NA | None | None | Not found |