Neurofibromatosis Type ۱

Neurofibromatosis type ۱ (NF۱) is a genetic disorder caused by mutations in the NF۱ gene, that codes. neurofibromin, a critical regulator of the RAS signaling pathway. This review focuses on NF۱'s molecular biology, gene structure, protein function, and dysregulated pathways (RAS/MAPK, PI۳K/AKT/mTOR, Rho/ROCK) that contribute to tumorigenesis. Loss of function Mutations can lead to a wide range of clinical phenotypes, including café-au-lait macules, neurofibromas, and malignant peripheral nerve sheath tumors (MPNSTs). This article also demonstrates the advanced diagnostic tools, including next-generation sequencing, RNA-based testing and enhance mutation detection. Therapeutic progress, notably MEK inhibitors like Selumetinib, have revolutionized NF۱ management, with emerging trials investigating mTOR inhibitors, tyrosine kinase inhibitors, and immunotherapies. Recent studies highlight precision medicine, gene editing (e.g., CRISPR/Cas۹), and epigenetic therapies targeting tumor microenvironments. Despite advances, challenges in predicting phenotype severity and tailoring therapies persist. Collaborative efforts among clinicians, researchers, and patients are essential to translate molecular insights into improved quality of life for NF۱ patients. This review underscores the need for ongoing innovation to address this complex disorder's multifaceted challenges.

کلیدواژه ها:

Neurofibromatosis Type ۱ ، NF۱ gene ، neurofibromin ، RAS signaling ، genotype-phenotype correlation