Table 1.
Patient | Sex | Age at the initial symptom (Y) |
Age at Diagnosis (Y) |
Family History | Initial Symptom | Number of tumors | Location of the tumors | Follow up (Y) |
Pain (score before/after treatment)/10 | DLQI Score/30 |
Treatment | Recurrence | Molecular investigation (NF2, SMARCB1, LZTR1) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 53 | 54 | – | P | 3 | UL | 7 | 4/0 | 2 | S | No | No mutation |
2 | F | ND | 23 | – | Mass | 2 | LL | 1 | ND | ND | S | Yes | LZTR1 heterozygous (VAF of 47%) pathogenic variant c.692delT, p.(Phe231Serfs*21) |
3 | F | 39 | 39 | suspected NF1 | P | > 10 | LL | 11 | ND | ND |
D (pregabaline) S |
No | No mutation |
4 | F | 6 | 38 | suspected NF1 | ED | 9 | UL | 3 | 9/0 | 5 | S | Yes | LZTR1 heterozygous (VAF of 48%) VUS c.764 T > G, p.(Leu255Arg) (described in Louvrier et al. 2018) |
5 | M | ND | 37 | – | P | > 10 | LL | 2 | ND | ND | S | No | No mutation |
6 | F | ND | 55 | – | ED | 2 | LL | 1 | ND | ND | S | No | NP |
7 | F | 30 | 32 | – | P | > 10 | UL | 26 | 8/2 | ND | S | Yes | NP |
8 | M | 12 | 13 | – | P | > 10 | UL | 2 | 8/1 | 4 | S | Yes | No mutation |
9 | M | 15 | 18 | Cerebral tumor | ED | 5 | UL | L | ND | ND | ND | ND | NP |
10 | F | 29 | 32 | – | P | > 10 | LL | 3 | 9/5 | 13 | D (gabapentine, duloxetine, paracetamol) | NA | No mutation |
11 | F | 19 | 28 | Vestibular schwannoma | P | 6 | LL | 3 | 6/0 | 7 |
D (pregabaline, tramadol) S |
Yes | LZTR1 heterozygous (VAF of 51%) mutation c.264-13G > A, p. p.Lys89Cysfs*16 (described in Piotrowski et al. 2014) |
12 | F | 60 | 65 | – | ED | > 10 | LL | 2 | 8/5 | 2 | D (pregabaline) | NA | No mutation |
D Drugs, DLQI Dermatology Quality of Life Index, ED electrical discharge, F female, M male, L Lost to follow-up, LL Lower limb, NA not applicable, ND not determined, NF1 neurofibromatosis type 1, NP not performed, P Pain, UL Upper limb, S Surgery, Y year, VAF variant allele frequency, VUS variant of unknown significance