MODERN APPROACHES TO DIAGNOSTICS, THE PROBLEM OF CLINICAL POLYMORPHISM OF NEUROFIBROMATOSIS IN CHILDREN (LITERATURE REVIEW)
Keywords:
neurofibromatosis, children, clinical polymorphism, diagnosticsAbstract
This article analyzes literature data on the characteristics of the development of neurofibromatosis in children. An analysis of the studied scientific and medical literature showed that many unresolved problems remain, such as the introduction of effective pharmacological drugs into the clinic, identifying the causes of high mutability of the NF1 gene and pronounced clinical polymorphism, and difficulties in diagnosing this pathology at the genetic level. Concentration of the main directions in the study of molecular mechanisms of the disease will allow to correctly orient the search to resolve the existing contradictions.
References
Anderson M. K. [и др.]. A Review of Selumetinib in the Treatment of Neurofibromatosis Type 1-Related Plexiform Neurofibromas // The Annals of pharmacotherapy. 2022. № 6 (56). C. 716–726.
Armstrong A. E. [и др.]. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas // BMC Cancer. 2023. Т. 23. № 1.
Armstrong A. E. [и др.]. Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas // BMC Cancer. 2023. № 1 (23).
Azizi A. A. [и др.]. Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas // Neuro-Oncology Practice. 2024.
Beert E. [и др.]. Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors // Genes, chromosomes & cancer. 2011. № 12 (50). C. 1021–1032.
Ben-Shachar S. [и др.]. Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules // Journal of the American Academy of Dermatology. 2017. № 6 (76). C. 1077-1083.e3.
Bergqvist C. [и др.]. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966 // Orphanet Journal of Rare Diseases. 2020. Т. 15. № 1.
Boyd K. P., Korf B. R., Theos A. Neurofibromatosis type 1 // Journal of the American Academy of Dermatology. 2009. Т. 61. № 1. C. 1–14.
Bruce R Korf M. P. M. L. M. M. L. K. M. M. Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis. 2025.
Bruce R Korf M. P. M. L. M. M. L. K. M. M. Neurofibromatosis type 1 (NF1): Management and prognosis. 2025.
Carton C. [и др.]. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 // eClinicalMedicine. 2023.(56). C. 101818.
Chen J. L. [и др.]. Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk // Annual Review of Genomics and Human Genetics. 2022. Т. 23. C. 331–361.
Gross A. M. [и др.]. Selumetinib in Children with Inoperable Plexiform Neurofibromas // New England Journal of Medicine. 2020. № 15 (382). C. 1430–1442.
Gross A. M. [и др.]. Long-term safety and efficacy of selumetinib in children with neurofibromatosis type 1 on a phase 1/2 trial for inoperable plexiform neurofibromas // Neuro-Oncology. 2023. № 10 (25). C. 1883–1894.
Gutmann D. H. [и др.]. Neurofibromatosis type 1 // Nature reviews. Disease primers. 2017. (3).
Hsu C. K. [и др.]. The Number of Surgical Interventions and Specialists Involved in the Management of Patients with Neurofibromatosis Type I: A 25-Year Analysis // Journal of Personalized Medicine. 2022. № 4 (12).
Legius E. [и др.]. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation // Genetics in Medicine. 2021. № 8 (23). C. 1506–1513.
Legius E. [и др.]. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation // Genetics in Medicine. 2021. № 8 (23). C. 1506–1513.
Legius E., Brems H. Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism // Child’s Nervous System. 2020. № 10 (36). C. 2285–2295.
Mautner V. F. [и др.]. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1 // Neuro-Oncology. 2008. № 4 (10). C. 593.
Nunley K. S. [и др.]. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1 // Archives of Dermatology. 2009. № 8 (145). C. 883–887.
Pietro S. Di [и др.]. Magnetic Resonance Imaging of Central Nervous System Manifestations of Type 1 Neurofibromatosis: Pictorial Review and Retrospective Study of Their Frequency in a Cohort of Patients // Journal of Clinical Medicine. 2024. № 11 (13).
Pimentel M. F. [и др.]. Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1 // Translational Vision Science & Technology. 2022. № 2 (11). C. 10–10.
Prudner B. C. [и др.]. Diagnosis and management of malignant peripheral nerve sheath tumors: Current practice and future perspectives // Neuro-oncology advances. 2019. № Suppl 1 (2). C. I40–I49.
Tang Y., Gutmann D. H. Neurofibromatosis Type 1-Associated Optic Pathway Gliomas: Current Challenges and Future Prospects // Cancer management and research. 2023. (15). C. 667–681.
Uusitalo E. [и др.]. Incidence and mortality of neurofibromatosis: A total population study in Finland // Journal of Investigative Dermatology. 2015. № 3 (135). C. 904–906.
Нейрофиброматоз 1 типа (НФ1): Российские клинические рекомендации. 2023.
