Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version) / 罕见病研究

ABSTRACT

@#Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the <i>NF1</i> gene. Features of disorder typically appear in early childhood. The clinical phenotypes of the patients are diverse but neurofibromas is the main feature. Patients with NF1 also suffer from multi-system involvement and have high risk of malignant tumor. NF1 poses significant challenges for diagnosis, treatment, follow-up and patients management. Therefore, it is imperative to develop a multidisciplinary collaborative diagnosis and treatment protocol. Under the leadership of China Alliance for Rare Diseases, a multidisciplinary diagnosis and treatment collaborative team for NF1 has been formed and worked out the guideline. This guideline intends to lift the diagnosis and treatment level for NF1 and to provide the guideline for standardized treatment for NF1 patients in China.