[Expert consensus for full course management of plexiform neurofibroma (2025 edition)].

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, affecting approximately 1 in 3 000 newborns worldwide. Plexiform neurofibroma (PNF) is one of the common clinical manifestations of NF1. PNF can lead to a range of clinical symptoms, with a high rate of disability and teratogenesis; furthermore, there is a risk for malignant transformation that poses significant threats to the life and health of patients. Currently, there is no unified standard regarding the definition, diagnosis, evaluation, monitoring, or treatment strategies for PNF. In order to further standardize the clinical diagnosis and treatment of PNF, initiated by the Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association, the experts and scholars from various disciplines within the NF1 field across China were organized. Finally, based on existing evidence-based medicine evidence, a total of 18 recommendations have been proposed for the diagnosis, screening, surgical treatment, pharmacological treatment, disease monitoring, as well as patient education and psychological support related to PNF, aiming to serve as a reference for the standardized clinical diagnosis and treatment of PNF.

Publication Details

Journal
PubMed
Published
2025-02-04
DOI
https://doi.org/10.3760/cma.j.cn112137-20240809-01824
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
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[Expert consensus for full course management of plexiform neurofibroma (2025 edition)].

PubMed
Neurofibromatosis and Schwannoma Cases
article

[Expert consensus for full course management of plexiform neurofibroma (2025 edition)].

article en

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene, affecting approximately 1 in 3 000 newborns worldwide. Plexiform neurofibroma (PNF) is one of the common clinical manifestations of NF1. PNF can lead to a range of clinical symptoms, with a high rate of disability and teratogenesis; furthermore, there is a risk for malignant transformation that poses significant threats to the life and health of patients. Currently, there is no unified standard regarding the definition, diagnosis, evaluation, monitoring, or treatment strategies for PNF. In order to further standardize the clinical diagnosis and treatment of PNF, initiated by the Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association, the experts and scholars from various disciplines within the NF1 field across China were organized. Finally, based on existing evidence-based medicine evidence, a total of 18 recommendations have been proposed for the diagnosis, screening, surgical treatment, pharmacological treatment, disease monitoring, as well as patient education and psychological support related to PNF, aiming to serve as a reference for the standardized clinical diagnosis and treatment of PNF.

PubMedVol. 105(5)
Neurofibromatosis and Schwannoma Cases
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