Title: | Guidelines for Full Course Management of Plexiform Neurofibroma (2024 edition) |
Edition: | Original |
Classification: | Standard guideline |
Field: | Comprehensive guideline |
Countries and regions: | China |
Guidelines users: | Clinical staff |
Evidence classification method: | Grading of Recommendations,Assessment,Development and Evaluation |
Development unit: | Shanghai Ninth People's Hospital affiliated to Shanghai JiaoTong University School of Medicine |
Registration time: | 2024-07-29 |
Registration number: | PREPARE-2024CN084 |
Purpose of the guideline: | Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations of NF1 gene, affecting approximately 1 in 3000 newborns worldwide. Plexiform neurofibroma (PNF) is a common clinical manifestation of NF1, affecting about 20%-50% of patients with NF1. Although it is a benign tumor, PNF can cause a series of clinical symptoms with a high rate of disability and deformity, and there is a risk of malignant transformation, which seriously endangers the life and health of patients. The treatment of PNF has traditionally been limited to surgery, but in recent years there has been a major breakthrough in the treatment of PNF. The MEK inhibitor selumetinib was recently approved for the treatment of pediatric patients with symptomatic and inoperable NF1-associated PNF. At present, there is no unified standard for the definition, diagnosis, evaluation, monitoring and treatment strategy of PNF. This guideline was initiated by the Chinese Multi-Center Treatment Group for Neurofibromatosis Type 1 (founded by the Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine). 51 NF1 experts of the Neurofibromatosis Expert Committee of China Rare Disease Alliance, Group of Neurofibromatosis of Plastic and Reconstructive Surgery Society of Chinese Medical Association, and National multi-center Research Platform of Plastic surgery, from various disciplines including plastic and reconstructive surgery, pediatrics, neurosurgery, orthopedics, otorhinolaryngology, head and neck surgery, dermatology, pathology, radiology and etc. were invited. An expert group was established for the Full Course Management Guideline of Plexiform Neurofibroma (2024 edition). According to the latest research results locally and globally, the guideline was formed after discussion and revision by the expert group, providing valuable references for clinical staff to diagnose and manage PNF. |
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