Continuity in management of pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas

Neurofibromatosis type 1 (NF1) is a genetically determined multisystem rare disease with a neonatal morbidity of around 1/300–1/4000. The most typical feature for NF1 is a predisposition to the development of tumors that are variable in histological types and age of occurrence. One of the most common variants of benign neoplasms in NF1 are plexiform neurofibromas (PN) with typical manifestation and maximum growth rates in childhood. The features of PN are the diffuse and multifocal growth, high vascularization, which in most cases limits the possibilities of surgical treatment. Despite the relatively slow growth rate, PN can reach large, and in some cases huge sizes, leading to severe disability of patients, quality of life impairment, and often life threatening. Another feature of PN is the risk of transformation into a malignant peripheral nerve sheaths tumor, which requires delicate lifelong monitoring of patients at risk.

Today, the use of the selective MEK inhibitor selumetinib is a key method of conservative therapy for patients with symptomatic NF1-associated PN, with demonstrated high efficacy and safety in international clinical trials. Taking into account all features of NF1, as well as range of associated diseases, it is obvious the necessity for monitoring and decision-making by multidisciplinary team of specialists. Many questions in the aspects of continuity of medical care with the involvement of federal centers, compliance with practical recommendations, diagnostic/ treatment algorithms and transfer from pediatric into the adult-focused primary care system remain unclear, which will be discussed in this article

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