A consensus on the diagnosis and management of neurofibromatosis type 1 in Taiwan.

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder resulting from pathogenic variants in the tumor suppressor NF1 gene, which encodes neurofibromin. Its clinical manifestations are age-related and affect multiple systems, ranging from the characteristic café-au-lait macules, visible on the skin from birth, to plexiform neurofibromas (PNs), which have the potential to transform into malignant tumors during adolescence and adulthood. The Taiwan Child Neurology Society convened a series of meetings with experts from various specialties to review the latest evidence and updates related to NF1, including the recent approval of selumetinib for pediatric patients with symptomatic and inoperable PN in Taiwan. A consensus on diagnosis and management was established with the goal of enhancing disease understanding and providing guidance to local clinicians. Emphasis was placed on the importance of early recognition, diagnosis, and continuous health supervision, with the use of a multidisciplinary team (MDT) approach. It is recommended that a comprehensive benefit-risk assessment, considering all available treatment options, be conducted by the MDT to develop personalized management plans and ensure optimal care for pediatric NF1 patients.