Neurofibromatosis type I disease
- Autosomal dominant human genetic disease
- One of the most common genetic disorders : it affects 1 individual in 3500
- Clinical phenotypes associated with NF1 are numerous (minor to severe):
- Abnormal skin pigmentation: “Café au lait” spots
- Vascular defects
- Skeletal abnormalities
- Nerve tumors
- Central Nervous System: glioma, astrocytoma
- Peripheral Nervous System: benign neurofibroma, plexiform neurofibroma with a risk of malignancy (10%) MPNST highly metastatic
- Neurological disorders (50 to 70%): learning disabilities, attention difficulties, executive function deficits, motor coordination problems
- No targeted therapie so far, only MEK inhobitor repurposing (Selumitinib, Mirdametinib)