Table 3 The spectrum and percentile distribution of somatic NF1 micro-lesions reported in different NF1-associated tumours
From: Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis
Tumour type | Mutation type | |||||||
|---|---|---|---|---|---|---|---|---|
| Â | Deletion | Insertion | Indel | Nonsense | Splice site | Missense | Truncating | Total |
Dermal neurofibroma | 82 (39%) | 15 (7%) | 2 (1%) | 59 (28%) | 32 (15%) | 21 (10%) | 158 (75%) | 211 |
Plexiform neurofibroma | 6 (33%) | 1 (6%) | - | 7 (39%) | 2 (11%) | 2 (11%) | 14 (78%) | 18 |
Spinal neurofibroma | - | - | - | - | 2 (66%) | 1 (33%) | 0 | 3 |
MPNST | 7 (70%) | 1 (10%) | 1 (10%) | 1 (10%) | - | - | 10 (100%) | 10 |
GIST/gastric carcinoid | 1 (20%) | - | - | 3 (60%) | 1 (20%) | - | 4 (80%) | 5 |
JMML* | * | * | * | 1 (100%) | * | * | 1 (100%) | 1 |
Glomus tumour | 2 (33%) | 1 (17%) | - | 1 (17%) | 2 (33%) | - | 4 (67%) | 6 |
Overall | 98 (39%) | 18 (7%) | 3 (1%) | 72 (28%) | 39 (15%) | 24 (9%) | 191 (75%) | 254 |