Table 1 Contribution of LOH and NF1 micro-lesions to the somatic NF1 mutational spectrum in different types of NF1-associated tumour
From: Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis
Tumour type | LOH | Point mutations | Total |
|---|---|---|---|
Dermal neurofibroma | 144 (40%) | 211 (60%) | 355 |
Plexiform neurofibroma | 67 (79%) | 18 (21%) | 85 |
Spinal neurofibroma | 7 (70%) | 3 (30%) | 10 |
MPNST | 55 (85%) | 10 (15%) | 65 |
Astrocytoma | 18 (100%) | 0 (0%) | 18 |
GIST/gastric carcinoid | 3 (38%) | 5 (62%) | 8 |
JMML | 18 (95%) | 1* (5%) | 19 |
Phaeochromocytoma | 10 (100%) | 0 (0%) | 10 |
Glomus tumour | 1 (14%) | 6 (86%) | 7 |
Overall | 323 (55%) | 254 (44%) | 577 |