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Neurofibromatosis type 1 is an inherited condition, affecting about one in 2,000 to 2,500 babies, that causes nerve tumours called neurofibromas and raises the risk of some cancers. Regular check-ups find problems early, and two tablets now shrink the large plexiform neurofibromas that cannot be removed by surgery.
Autosomal dominant, caused by a pathogenic variant in NF1; about half of people inherit it and half have a new variant (ERN GENTURIS, Carton 2023). It predisposes to benign and malignant tumours: plexiform and cutaneous neurofibromas, optic pathway glioma, malignant peripheral nerve sheath tumour (MPNST), phaeochromocytoma, paraganglioma, gastrointestinal stromal tumour, breast cancer, glomus tumours of the digits and juvenile myelomonocytic leukaemia.
The 2023 ERN GENTURIS guideline (modified Delphi, NF1 experts and patient representatives) advises annual assessment of children up to ten and at least two-yearly after that, with yearly visual assessment for optic pathway glioma up to age eight; a whole-body MRI at the transition to adulthood to measure internal plexiform tumour burden as a predictor of MPNST risk; clinical assessment of adults at least every three years; urgent resection without watchful waiting for MPNST; and annual breast MRI from as soon after 30 as the local system allows, to age 50. The AACR 2017 paediatric recommendations advised against routine MRI in children without visual symptoms; the 2024 AACR update harmonised paediatric surveillance across NF1 and the other RASopathies.
The MEK inhibitors selumetinib (US 2020, children; extended to adults in 2025) and mirdametinib (US and EU 2025, adults and children) are approved for symptomatic plexiform neurofibromas that cannot be removed.
In plain words · NF1 makes neurofibromin, the protein that switches RAS off. People born with one faulty copy develop neurofibromatosis type 1, whose plexiform neurofibromas are now treated with the MEK inhibitors selumetinib and mirdametinib, which cut the RAS signal one step down.
Showing the target this term concerns: NF1 (neurofibromin).
Shares Whole-body MRI, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Whole-body MRI, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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