nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2021-8-2-144-152nodgo-715Research ArticleРЕЗОЛЮЦИИRESOLUTIONSРезолюция Экспертного совета по проблемам диагностики и лечения пациентов с плексиформными нейрофибромамиResolution of the Expert council on the problems of diagnosis and treatment of patients with plexiform neurofibromasРедакционнаястатьяEditorialArticle20211107202182144152Copyright © Редакционная с., 20212021Редакционная с.Editorial a.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/715
Плексиформная нейрофиброма (ПНФ) — доброкачественная опухоль периферической нервной системы.
плексиформная нейрофибромаReferencesНациональный институт рака: плексиформная нейрофиброма -доброкачественная опухоль периферической нервной системы. [Электронный ресурс]: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/plexiform-neurofibroma (дата обращения 11.05.2021).National cancer institute: plexiform neurofibroma -benign tumor of the peripheral nervous system. [Electronic resource]: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/plexiform-neurofibroma (appeal date 11.05.2021).Korf B.R. Plexiform neurofibromas. Am J Med Genet 1999;89(1):31-7. doi: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w.Korf B.R. Plexiform neurofibromas. Am J Med Genet 1999;89(1):31-7. doi: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w.Gutmann D.H., Ferner R.E., Listernick R.H., Korf B.R., Wolters P.L., Johnson K.J. Neurofibromatosis type 1. Nat Rev Dis Primers 2017;3:17004. doi: 10.1038/nrdp.2017.4.Gutmann D.H., Ferner R.E., Listernick R.H., Korf B.R., Wolters P.L., Johnson K.J. Neurofibromatosis type 1. Nat Rev Dis Primers 2017;3:17004. doi: 10.1038/nrdp.2017.4.Mautner V.F., Hartmann M., Kluwe L., Friedrich R.E., Funsterer C. MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology 2006;48(3): 160-5. doi: 10.1007/s00234-005-0033-4.Mautner V.F., Hartmann M., Kluwe L., Friedrich R.E., Funsterer C. MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology 2006;48(3): 160-5. doi: 10.1007/s00234-005-0033-4.Tchernev G., Chokoeva A.A., Patterson J.W., Bakardzhiev I., Wollina U., Tana C. Plexiform neurofibroma: a case report. Medicine (Baltimore) 2016;95(6):e2663. doi: 10.1097/MD.0000000000002663.Tchernev G., Chokoeva A.A., Patterson J.W., Bakardzhiev I., Wollina U., Tana C. Plexiform neurofibroma: a case report. Medicine (Baltimore) 2016;95(6):e2663. doi: 10.1097/MD.0000000000002663.Staser K., Yang F.-C., Clapp D.W. Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol 2012;7:469-95. doi: 10.1146/annurev-pathol-011811-132441.Staser K., Yang F.-C., Clapp D.W. Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol 2012;7:469-95. doi: 10.1146/annurev-pathol-011811-132441.Zwane N.P., Noffke C.E.E., Raubenheimer E.J. Solitary oral plexiform neurofibroma: review of literature and report of a case. Oral Oncol 2011;47(6):449-51. doi: 10.1016/j.oraloncology.2011.04.005.Zwane N.P., Noffke C.E.E., Raubenheimer E.J. Solitary oral plexiform neurofibroma: review of literature and report of a case. Oral Oncol 2011;47(6):449-51. doi: 10.1016/j.oraloncology.2011.04.005.Коновалов Н.А., Королишин В.А., Асютин Д.С., Тимонин С.Ю., Шульц М.А., Соленкова А.В., Закиров Б.А., Батыров А.А. Лечение злокачественных опухолей оболочек периферических нервов: случаи из практики и обзор литературы. Журнал «Вопросы нейрохирургии» имени Н.Н. Бурденко 2019;83(3):64-72. doi: 10.17116/neiro20198303164.Konovalov N.A., Korolishin V.A., Asyutin D.S., Timonin S.Yu., Shults M.A., Solenkova A.V., Zakirov B.A., Batyrov A.A. Treatment of malignant peripheral nerve sheath tumors: case reports and a literature review. Zhurnal Voprosy Neirokhirurgii Imeni N.N. Burdenko = Burdenko's Journal of Neurosurgery 2019;83(3):64-72. (In Russ.).de Vasconcelos R.A.T., Coscarelli P.G., Alvarenga R.P., Acioly M.A. Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. Arq Neuropsiquiatr 2017;75(6):366-71. doi: 10.1590/0004-282X20170052.de Vasconcelos R.A.T., Coscarelli P.G., Alvarenga R.P., Acioly M.A. Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. Arq Neuropsiquiatr 2017;75(6):366-71. doi: 10.1590/0004-282X20170052.Farschtschi S., Mautner V.-F., McLean A.C.L., Schulz A., Friedrich R.E., Rosahl S.K. The neurofibromatoses. Dtsch Arztebl Int 2020;117(20):354-60. doi: 10.3238/arztebl.2020.0354.Farschtschi S., Mautner V.-F., McLean A.C.L., Schulz A., Friedrich R.E., Rosahl S.K. The neurofibromatoses. Dtsch Arztebl Int 2020;117(20):354-60. doi: 10.3238/arztebl.2020.0354.Cimino P.J., Gutmann D.H. Neurofibromatosis type 1. Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X.Cimino P.J., Gutmann D.H. Neurofibromatosis type 1. Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X.Laffargue F., Bourthoumieu S., Llanas B., Baudouin V., Lahoche A., Morin D., Bessenay L., De Parscau L., Cloarec S., Delrue M.-A., Taupiac E., Dizier E., Laroche C., Bahans C., Yardin C., Lacombe D., Guigonis V. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child 2015;100(3):259-64. doi: 10.1136/archdischild-2014-306810.Laffargue F., Bourthoumieu S., Llanas B., Baudouin V., Lahoche A., Morin D., Bessenay L., De Parscau L., Cloarec S., Delrue M.-A., Taupiac E., Dizier E., Laroche C., Bahans C., Yardin C., Lacombe D., Guigonis V. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child 2015;100(3):259-64. doi: 10.1136/archdischild-2014-306810.Evans D.G.R. Neurofibromatosis type 2. Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6.Evans D.G.R. Neurofibromatosis type 2. Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6.Evans D.G., Bowers N.L., Tobi S., Hartley C., Wallace A.J., King A.T., Lloyd S.K.W., Rutherford S.A., Hammerbeck-Ward C., Pathmanaban O.N., Freeman S.R., Ealing J., Kellett M., Laitt R., Thomas O., Halliday D., Ferner R., Taylor A., Duff C., Harkness E.F., Smith M.J. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry 2018;89(11):1215-9. doi: 10.1136/jnnp-2018-318538.Evans D.G., Bowers N.L., Tobi S., Hartley C., Wallace A.J., King A.T., Lloyd S.K.W., Rutherford S.A., Hammerbeck-Ward C., Pathmanaban O.N., Freeman S.R., Ealing J., Kellett M., Laitt R., Thomas O., Halliday D., Ferner R., Taylor A., Duff C., Harkness E.F., Smith M.J. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry 2018;89(11):1215-9. doi: 10.1136/jnnp-2018-318538.GeneCards®: База данных генов человека: Этот генный продукт (NF1), по-видимому, действует как негативный регулятор пути передачи сигнала ras. Мутации в этом гене связаны с нейрофиброматозом 1 типа [Электронный ресурс]: https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF1 (дата обращения 11.05.2021).GeneCards®: The Human Gene Database: This gene (NF1) product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1. [Electronic resource]: https://www.genecards.org/cgi-bin/carddisp.pl?gene=NF1 (appeal date 11.05.2021).UniProtKB - P21359 (NF1_HUMAN): Белок: нейрофибромин, Ген: NF1 [Электронный ресурс]: https://www.uniprot.org/uniprot/P21359 (дата обращения 11.05.2021).UniProtKB - P21359 (NF1_HUMAN): Белок: нейрофибромин, Ген: NF1 [Электронный ресурс]: https://www.uniprot.org/uniprot/P21359 (дата обращения 11.05.2021). [UniProtKB - P21359 (NF1_HUMAN): Protein: Neurofibromin, Gene: NF1. [Electronic resource]: https://www.uniprot.org/uniprot/P21359 (appeal date 11.05.2021).Bergoug M., Doudeau M., Godin F., Mosrin C., Vallee B., Benedetti H. Neurofibromin Structure, Functions and Regulation. Cells 2020;9(11):2365. doi: 10.3390/cells9112365.Bergoug M., Doudeau M., Godin F., Mosrin C., Vallee B., Benedetti H. Neurofibromin Structure, Functions and Regulation. Cells 2020;9(11):2365. doi: 10.3390/cells9112365.Koliou X., Fedonidis C., Kalpachidou T., Mangoura D. Nuclear import mechanism of neurofibromin for localization on the spindle and function in chromosome congression. J Neurochem 2016;136(1):78-91. doi: 10.1111/jnc.13401.Koliou X., Fedonidis C., Kalpachidou T., Mangoura D. Nuclear import mechanism of neurofibromin for localization on the spindle and function in chromosome congression. J Neurochem 2016;136(1):78-91. doi: 10.1111/jnc.13401.Lim J., Yusoff P., Wong E.S.M., Chandramouli S., Lao D.-H., Fong C.W., Guy G.R. The cysteine-rich sprouty translocation domain targets mitogen-activated protein kinase inhibitory proteins to phosphatidylinositol 4, 5-bisphosphate in plasma membranes. Mol Cell Biol 2002;22(22):7953-66. doi: 10.1128/MCB.22.22.7953-7966.2002.Lim J., Yusoff P., Wong E.S.M., Chandramouli S., Lao D.-H., Fong C.W., Guy G.R. The cysteine-rich sprouty translocation domain targets mitogen-activated protein kinase inhibitory proteins to phosphatidylinositol 4, 5-bisphosphate in plasma membranes. Mol Cell Biol 2002;22(22):7953-66. doi: 10.1128/MCB.22.22.7953-7966.2002.Anastasaki C., Woo A.S., Messiaen L.M., Gutmann D.H. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet 2015;24(12):3518-28. doi: 10.1093/hmg/ddv103.Anastasaki C., Woo A.S., Messiaen L.M., Gutmann D.H. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet 2015;24(12):3518-28. doi: 10.1093/hmg/ddv103.Karaconji T., Whist E., Jamieson R.V., Flaherty M.P., Grigg J.R.B. Neurofibromatosis type 1: review and update on emerging therapies. Asia Pac J Ophthalmol (Phila) 2019;8(1):62-72. doi: 10.22608/APO.2018182.Karaconji T., Whist E., Jamieson R.V., Flaherty M.P., Grigg J.R.B. Neurofibromatosis type 1: review and update on emerging therapies. Asia Pac J Ophthalmol (Phila) 2019;8(1):62-72. doi: 10.22608/APO.2018182.Ly K.I., Blakeley J.O. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am 2019;103(6):1035-54. doi: 10.1016/j.mcna.2019.07.004.Ly K.I., Blakeley J.O. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am 2019;103(6):1035-54. doi: 10.1016/j.mcna.2019.07.004.Reynolds R.M., Browning G.G.P., Nawroz I., Campbell I.W. Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet 2003;361(9368):1552-4. doi: 10.1016/s0140-6736(03)13166-2.Reynolds R.M., Browning G.G.P., Nawroz I., Campbell I.W. Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet 2003;361(9368):1552-4. doi: 10.1016/s0140-6736(03)13166-2.Prada C.E., Rangwala F.A., Martin L.J., Lovell A.M., Saal H.M., Schorry E.K., Hopkin R.J. Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr 2012;160(3):461-7. doi: 10.1016/j.jpeds.2011.08.051.Prada C.E., Rangwala F.A., Martin L.J., Lovell A.M., Saal H.M., Schorry E.K., Hopkin R.J. Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1. J Pediatr 2012;160(3):461-7. doi: 10.1016/j.jpeds.2011.08.051.Elefteriou F., Kolanczyk M., Schindeler A., Viskochil D.H., Hock J.M., Schorry E.K., Crawford A.H., Friedman J.M., Little D., Peltonen J., Carey J.C., Feldman D., Yu X., Armstrong L., Birch P., Kendler D.L., Mundlos S., Yang F.-C., Agiostratidou G., Hunter-Schaedle K., Stevenson D.A. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A 2009;149A(10):2327-38. doi: 10.1002/ajmg.a.33045.Elefteriou F., Kolanczyk M., Schindeler A., Viskochil D.H., Hock J.M., Schorry E.K., Crawford A.H., Friedman J.M., Little D., Peltonen J., Carey J.C., Feldman D., Yu X., Armstrong L., Birch P., Kendler D.L., Mundlos S., Yang F.-C., Agiostratidou G., Hunter-Schaedle K., Stevenson D.A. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A 2009;149A(10):2327-38. doi: 10.1002/ajmg.a.33045.Dalla Via P., Opocher E., Pinello M.L., Calderone M., Viscardi E., Clementi M., Battistella P.A., Laverda A.M., Da Dalt L., Perilongo G. Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program. Neuro Oncol 2007;9(4):430-7. doi: 10.1215/15228517-2007-031.Dalla Via P., Opocher E., Pinello M.L., Calderone M., Viscardi E., Clementi M., Battistella P.A., Laverda A.M., Da Dalt L., Perilongo G. Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program. Neuro Oncol 2007;9(4):430-7. doi: 10.1215/15228517-2007-031.Lidzba K., Granstrom S., Lindenau J., Mautner V.-F. The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1. Dev Med Child Neurol 2012;54(10):892-7. doi: 10.1111/j.1469-8749.2012.04377.x.Lidzba K., Granstrom S., Lindenau J., Mautner V.-F. The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1. Dev Med Child Neurol 2012;54(10):892-7. doi: 10.1111/j.1469-8749.2012.04377.x.Bosch M.M., Boltshauser E., Harpes P., Landau K. Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol 2006;141(6):1068-77. doi: 10.1016/j.ajo.2005.12.042.Bosch M.M., Boltshauser E., Harpes P., Landau K. Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. Am J Ophthalmol 2006;141(6):1068-77. doi: 10.1016/j.ajo.2005.12.042.Mahdi J., Shah A.C., Sato A., Morris S.M., McKinstry R.C., Listernick R., Packer R.J., Fisher M.J., Gutmann D.H. A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1. Neurology 2017;88(16):1584-9. doi: 10.1212/WNL.0000000000003881.Mahdi J., Shah A.C., Sato A., Morris S.M., McKinstry R.C., Listernick R., Packer R.J., Fisher M.J., Gutmann D.H. A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1. Neurology 2017;88(16):1584-9. doi: 10.1212/WNL.0000000000003881.Uusitalo E., Kallionpaa R.A., Kurki S., Rantanen M., Pitkaniemi J., Kronqvist P., Harkonen P., Huovinen R., Carpen O., Poyhonen M., Peltonen S., Peltonen J. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer 2017;116(2):211-7. doi: 10.1038/bjc.2016.403.Uusitalo E., Kallionpaa R.A., Kurki S., Rantanen M., Pitkaniemi J., Kronqvist P., Harkonen P., Huovinen R., Carpen O., Poyhonen M., Peltonen S., Peltonen J. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer 2017;116(2):211-7. doi: 10.1038/bjc.2016.403.Landry J.P., Schertz K.L., Chiang Y.-J., Bhalla A.D., Yi M., Keung E.Z., Scally C.P., Feig B.W., Hunt K.K., Roland C.L., Guadagnolo A., Bishop A.J., Lazar A.J., Slopis J.M., McCutcheon I.E., Torres K.E. Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020. JAMA Netw Open 2021;4(3):e210945. doi: 10.1001/jamanetworkopen.2021.0945.Landry J.P., Schertz K.L., Chiang Y.-J., Bhalla A.D., Yi M., Keung E.Z., Scally C.P., Feig B.W., Hunt K.K., Roland C.L., Guadagnolo A., Bishop A.J., Lazar A.J., Slopis J.M., McCutcheon I.E., Torres K.E. Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020. JAMA Netw Open 2021;4(3):e210945. doi: 10.1001/jamanetworkopen.2021.0945.Министерство здравоохранения и социальных служб США (Национальный институт здоровья): Диагностические критерии НФ1 [Электронный ресурс]: https://consensus.nih.gov/1987/1987Neurofibramatosis064html.htm (дата обращения 11.05.2021).United States Department of Health and Human Services (The National Institute of Health): The diagnostic criteria for NF-1. [Electronic resource]: https://consensus.nih.gov/1987/1987Neurofibramatosis064ht ml.htm (appeal date 11.05.2021).Cali F., Chiavetta V., Ruggeri G., Piccione M., Selicorni A., Palazzo D., Bonsignore M., Cereda A., Elia M., Failla P., Figura M.G., Fiumara A., Maitz S., Mandara G.M.L., Mattina T., Ragalmuto A., Romano C., Ruggieri M., Salluzzo R., Saporoso A., Schepis C., Sorge G., Spano M., Tortorella G., Romano V. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. Eur J Med Genet 2017;60(2):93-9. doi: 10.1016/j.ejmg.2016.11.001.Cali F., Chiavetta V., Ruggeri G., Piccione M., Selicorni A., Palazzo D., Bonsignore M., Cereda A., Elia M., Failla P., Figura M.G., Fiumara A., Maitz S., Mandara G.M.L., Mattina T., Ragalmuto A., Romano C., Ruggieri M., Salluzzo R., Saporoso A., Schepis C., Sorge G., Spano M., Tortorella G., Romano V. Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. Eur J Med Genet 2017;60(2):93-9. doi: 10.1016/j.ejmg.2016.11.001.Ledbetter D.H., Rich D.C., O'Connell P., Leppert M., Carey J.C. Precise localization of NF1 to 17q11. 2 by balanced translocation. Am J Hum Genet 1989;44(1):20-4. PMID: 2491776.Ledbetter D.H., Rich D.C., O'Connell P., Leppert M., Carey J.C. Precise localization of NF1 to 17q11. 2 by balanced translocation. Am J Hum Genet 1989;44(1):20-4. PMID: 2491776.Wimmer K., Yao S., Claes K., Kehrer-Sawatzki H., Tinschert S., De Raedt T., Legius E., Callens T., Beiglbock H., Maertens O., Messiaen L. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 2006;45(3):265-76. doi: 10.1002/gcc.20289.Wimmer K., Yao S., Claes K., Kehrer-Sawatzki H., Tinschert S., De Raedt T., Legius E., Callens T., Beiglbock H., Maertens O., Messiaen L. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer 2006;45(3):265-76. doi: 10.1002/gcc.20289.Koster R., Brandao R.D., Tserpelis D., van Roozendaal C.E.P., van Oosterhoud C.N., Claes K.B.M., Paulussen A.D.C., Sinnema M., Vreeburg M., van der Schoot V., Stumpel C.T.R.M., Broen M.P.G., Spruijt L., Jongmans M.C.J., Lesnik Oberstein S.A.J., Plomp A.S., Misra-Isrie M., Duijkers F.A., Louwers M.J., Szklarczyk R., Derks K.W.J., Brunner H.G., van den Wijngaard A., van Geel M., Blok M.J. Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq. MedRxiv 2021. doi: 10.1101/2021.04.22.21252609.Koster R., Brandao R.D., Tserpelis D., van Roozendaal C.E.P., van Oosterhoud C.N., Claes K.B.M., Paulussen A.D.C., Sinnema M., Vreeburg M., van der Schoot V., Stumpel C.T.R.M., Broen M.P.G., Spruijt L., Jongmans M.C.J., Lesnik Oberstein S.A.J., Plomp A.S., Misra-Isrie M., Duijkers F.A., Louwers M.J., Szklarczyk R., Derks K.W.J., Brunner H.G., van den Wijngaard A., van Geel M., Blok M.J. Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq. MedRxiv 2021. doi: 10.1101/2021.04.22.21252609.Tinschert S., Naumann I., Stegmann E., Buske A., Kaufmann D., Thiel G., Jenne D.E. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000;8(6):455-9. doi: 10.1038/sj.ejhg.5200493.Tinschert S., Naumann I., Stegmann E., Buske A., Kaufmann D., Thiel G., Jenne D.E. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000;8(6):455-9. doi: 10.1038/sj.ejhg.5200493.Карандашева К.О., Пащенко М.С., Дёмина Н.А., Акимова И.А., Макиенко О.Н., Петухова М.С., Бессонова Л.А., Анисимова И.В., Танас А.С., Залетаев Д.В., Стрельников В.В., Кузнецова Е.Б. Соматический мозаицизм при нейрофиброматозе первого типа. Медицинская генетика 2019;18(5):28-36. https://doi.org/10.25557/2073-7998.2019.05.28-36Karandasheva K.O., Pashchenko M.S., Demina N.A., Akimova I.A., Makienko O.N., Petuhova M.S., Bessonova L.A., Anisimova I.V., Tanas A.S., Zaletaev D.V., Strelnikov V.V., Kuznetsova E.B. Somatic mosaicism in neurofibromatosis type 1. Meditsinskaya genetika = Medical Genetics 2019;18(5):28-36. (In Russ.). https://doi.org/10.25557/2073-7998.2019.05.28-36Korf B.R., Lobbous M., Metrock L.K. Neurofibromatosis type 1 (NF1): Management and prognosis. UpToDate. Waltham, MA: UpToDate. Retrieved from www. uptodate. com (2017). UpToDate: Лица с NF1 должны находиться под наблюдением многопрофильной группы преданных своему делу специалистов на протяжении всей их жизни. [Электронный ресурс]: https://www.uptodate.com/contents/neurofibromatosis-type-1-nf1-management-and-prognosis (дата обращения 11.05.2021).UpToDate: Persons with NF1 should be cared for by a multidisciplinary team of dedicated specialists throughout their lifetime. [Electronic resource]: https://www.uptodate.com/contents/neurofibromatosis-type-1-nf1-management-and-prognosis (appeal date 11.05.2021).Tonsgard J.H. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol 2006;13(1):2-7. doi: 10.1016/j.spen.2006.01.005.Tonsgard J.H. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol 2006;13(1):2-7. doi: 10.1016/j.spen.2006.01.005.Halmai V., Doman I., de Jonge T., Illes T. Surgical treatment of spinal deformities associated with neurofibromatosis type 1: report of 12 cases. J Neurosurg 2002;97(3 Suppl):310-6. doi: 10.3171/spi.2002.97.3.0310.Halmai V., Doman I., de Jonge T., Illes T. Surgical treatment of spinal deformities associated with neurofibromatosis type 1: report of 12 cases. J Neurosurg 2002;97(3 Suppl):310-6. doi: 10.3171/spi.2002.97.3.0310.Barba C., Jacques T., Kahane P., Polster T., Isnard J., Leijten F.S.S., Ozkara C., Tassi L., Giordano F., Castagna M., John A., Oz B., Salon C., Streichenberger N., Cross J.H., Guerrini R. Epilepsy surgery in neurofibromatosis type 1. Epilepsy Res 2013;105(3):384-95. doi: 10.1016/j.eplepsyres.2013.02.021.Barba C., Jacques T., Kahane P., Polster T., Isnard J., Leijten F.S.S., Ozkara C., Tassi L., Giordano F., Castagna M., John A., Oz B., Salon C., Streichenberger N., Cross J.H., Guerrini R. Epilepsy surgery in neurofibromatosis type 1. Epilepsy Res 2013;105(3):384-95. doi: 10.1016/j.eplepsyres.2013.02.021.Miller D.T., Freedenberg D., Schorry E., Ullrich N.J., Viskochil D., Korf B.R., COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Health supervision for children with neurofibromatosis type 1. Pediatrics 2019;143(5):e20190660. doi: 10.1542/peds.2019-0660.Miller D.T., Freedenberg D., Schorry E., Ullrich N.J., Viskochil D., Korf B.R., COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Health supervision for children with neurofibromatosis type 1. Pediatrics 2019;143(5):e20190660. doi: 10.1542/peds.2019-0660.Nelson C.N., Dombi E., Rosenblum J.S., Miettinen M.M., Lehky T.J., Whitcomb P.O., Hayes C., Scott G., Benzo S., Widemann B.C., Chittiboina P. Safe marginal resection of atypical neurofibromas in neurofibromatosis type 1. J Neurosurg 2019;1-11. doi: 10.3171/2019.7.JNS191353.Nelson C.N., Dombi E., Rosenblum J.S., Miettinen M.M., Lehky T.J., Whitcomb P.O., Hayes C., Scott G., Benzo S., Widemann B.C., Chittiboina P. Safe marginal resection of atypical neurofibromas in neurofibromatosis type 1. J Neurosurg 2019;1-11. doi: 10.3171/2019.7.JNS191353.Chamseddin B.H., Hernandez L.N., Solorzano D., Vega J., Le L.Q. Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1. JCI Insight 2019;5(11):e128881. doi: 10.1172/jci.insight.128881.Chamseddin B.H., Hernandez L.N., Solorzano D., Vega J., Le L.Q. Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1. JCI Insight 2019;5(11):e128881. doi: 10.1172/jci.insight.128881.Needle M.N., Cnaan A., Dattilo J., Chatten J., Phillips P.C., Shochat S., Sutton L.N., Vaughan S.N., Zackai E.H., Zhao H., Molloy P.T. Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. J Pediatr 1997;131(5):678-82. doi: 10.1016/s0022-3476(97)70092-1.Needle M.N., Cnaan A., Dattilo J., Chatten J., Phillips P.C., Shochat S., Sutton L.N., Vaughan S.N., Zackai E.H., Zhao H., Molloy P.T. Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. J Pediatr 1997;131(5):678-82. doi: 10.1016/s0022-3476(97)70092-1.Lantieri L., Meningaud J.-P., Grimbert P., Bellivier F., Lefaucheur J.-P., Ortonne N., Benjoar M.-D., Lang P., Wolkenstein P. Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study. Lancet 2008;372(9639):639-45. doi: 10.1016/S0140-6736(08)61277-5.Lantieri L., Meningaud J.-P., Grimbert P., Bellivier F., Lefaucheur J.-P., Ortonne N., Benjoar M.-D., Lang P., Wolkenstein P. Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study. Lancet 2008;372(9639):639-45. doi: 10.1016/S0140-6736(08)61277-5.Wise J.B., Patel S.G., Shah J.P. Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1. Head Neck 2002;24(2):207-11. doi: 10.1002/hed.10001.Wise J.B., Patel S.G., Shah J.P. Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type 1. Head Neck 2002;24(2):207-11. doi: 10.1002/hed.10001.Ross A.L., Panthaki Z., Levi A.D. Surgical management of a giant plexiform neurofibroma of the lower extremity. World Neurosurg 2011;75(5-6):754-7. doi: 10.1016/j.wneu.2010.09.030.Ross A.L., Panthaki Z., Levi A.D. Surgical management of a giant plexiform neurofibroma of the lower extremity. World Neurosurg 2011;75(5-6):754-7. doi: 10.1016/j.wneu.2010.09.030.Graf A., Landolt M.A., Mori A.C., Boltshauser E. Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr 2006;149(3):348-53. doi: 10.1016/j.jpeds.2006.04.025.Graf A., Landolt M.A., Mori A.C., Boltshauser E. Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. J Pediatr 2006;149(3):348-53. doi: 10.1016/j.jpeds.2006.04.025.Granstrom S., Langenbruch A., Augustin M., Mautner V.-F. Psychological burden in adult neurofibromatosis type 1 patients: impact of disease visibility on body image. Dermatology 2012;224(2):160-7. doi: 10.1159/000337548.Granstrom S., Langenbruch A., Augustin M., Mautner V.-F. Psychological burden in adult neurofibromatosis type 1 patients: impact of disease visibility on body image. Dermatology 2012;224(2):160-7. doi: 10.1159/000337548.Casey D., Demko S., Sinha A., Mishra-Kalyani P.S., Shen Y.-L., Khasar S., Goheer M.A., Helms W.S., Pan L., Xu Y., Fan J., Leong R., Liu J., Yang Y., Windsor K., Ou M., Stephens O., Oh B., Reaman G.H., Nair A., Shord S.S., Bhatnagar V., Daniels S.R., Sickafuse S., Goldberg K.B., Theoret M.R., Pazdur R., Singh H. FDA Approval Summary: Selumetinib for Plexiform Neurofibroma. Clin Cancer Res 2021. doi: 10.1158/1078-0432.CCR-20-5032.Casey D., Demko S., Sinha A., Mishra-Kalyani P.S., Shen Y.-L., Khasar S., Goheer M.A., Helms W.S., Pan L., Xu Y., Fan J., Leong R., Liu J., Yang Y., Windsor K., Ou M., Stephens O., Oh B., Reaman G.H., Nair A., Shord S.S., Bhatnagar V., Daniels S.R., Sickafuse S., Goldberg K.B., Theoret M.R., Pazdur R., Singh H. FDA Approval Summary: Selumetinib for Plexiform Neurofibroma. Clin Cancer Res 2021. doi: 10.1158/1078-0432.CCR-20-5032.Управление по контролю за продуктами и лекарствами США (FDA одобрило первую терапию для детей с изнуряющим и обезображивающим редким заболеванием): Сегодня Управление по санитарному надзору за качеством пищевых продуктов и медикаментов США одобрило препарат Коселуго (селуметиниб) для лечения педиатрических пациентов в возрасте 2 лет и старше с нейрофиброматозом 1 типа (NF1). [Электронный ресурс]: https://www.fda.gov/news-events/press-announcements/fda-approves-first-therapy-children-debilitating-and-disfiguring-rare-disease (дата обращения 11.05.2021).U.S. Food and Drug Administration (FDA Approves First Therapy for Children with Debilitating and Disfiguring Rare Disease): Today, the U.S. Food and Drug Administration approved Koselugo (selumetinib) for the treatment of pediatric patients, 2 years of age and older, with neurofibromatosis type 1 (NF1) [Electronic resource]: https://www.fda.gov/news-events/press-announcements/fda-approves-first-therapy-children-debilitating-and-disfiguring-rare-disease (appeal date 11.05.2021).Национальная медицинская библиотека (Национальный центр биотехнологической информации): Селуметиниб является АТФ-независимым ингибитором митогенактивируемой протеинкиназы-киназы (MEK или MAPK/ERK-киназа) 1 и 2. MEK 1 [Электронный ресурс]: https://pubchem.ncbi.nlm.nih.gov/compound/Selumetinib (дата обращения 11.05.2021)National Library of Medicine (National Center for Biotechnology Information): Selumetinib is an ATP-independent inhibitor of mitogen-activated protein kinase kinase (MEK or MAPK/ERK kinase) 1 and 2. MEK 1 and 2 [Electronic resource]: https://pubchem.ncbi.nlm.nih.gov/compound/Selumetinib (appeal date 11.05.2021).Gross A.M., Wolters P.L., Dombi E., Baldwin A., Whitcomb P., Fisher M.J., Weiss B., Kim A.R., Bornhorst M., Shah A.C., Martin S., Roderick M.C., Pichard D.C., Carbonell A., Paul S.M., Therrien J., Kapustina O., Heisey K., Clapp D.W., Zhang C., Peer C.J., Figg W.D., Smith M., Glod J., Blakeley J.O., Steinberg S.M., Venzon D.J., Doyle L.A., Widemann B.C. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med 2020;382(15):1430-42. doi: 10.1056/NEJMoa1912735.Gross A.M., Wolters P.L., Dombi E., Baldwin A., Whitcomb P., Fisher M.J., Weiss B., Kim A.R., Bornhorst M., Shah A.C., Martin S., Roderick M.C., Pichard D.C., Carbonell A., Paul S.M., Therrien J., Kapustina O., Heisey K., Clapp D.W., Zhang C., Peer C.J., Figg W.D., Smith M., Glod J., Blakeley J.O., Steinberg S.M., Venzon D.J., Doyle L.A., Widemann B.C. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med 2020;382(15):1430-42. doi: 10.1056/NEJMoa1912735.Dombi E., Baldwin A., Marcus L.J., Fisher M.J., Weiss B., Kim A.R., Whitcomb P., Martin S., Aschbacher-Smith L.E., Rizvi T.A., Wu J., Ershler R., Wolters P., Therrien J., Glod J., Belasco J.B., Schorry E., Brofferio A., Starosta A.J., Gillespie A., Doyle A.L., Ratner N., Widemann B.C. Activity of selumetinib in neurofibromatosis type 1 -related plexiform neurofibromas. N Engl J Med 2016;375(26):2550-60. doi: 10.1056/NEJMoa1605943.Dombi E., Baldwin A., Marcus L.J., Fisher M.J., Weiss B., Kim A.R., Whitcomb P., Martin S., Aschbacher-Smith L.E., Rizvi T.A., Wu J., Ershler R., Wolters P., Therrien J., Glod J., Belasco J.B., Schorry E., Brofferio A., Starosta A.J., Gillespie A., Doyle A.L., Ratner N., Widemann B.C. Activity of selumetinib in neurofibromatosis type 1 -related plexiform neurofibromas. N Engl J Med 2016;375(26):2550-60. doi: 10.1056/NEJMoa1605943.Обзор мирового населения: Коэффициент рождаемости - это количество живорождений на 1000 человек населения за год или определенный период времени. [Электронный ресурс]: https:// worldpopulationreview.com/country-rankings/birth-rate-by-country (дата обращения 11.05.2021).U.S. Food and Drug Administration (FDA Approves First Therapy for Children with Debilitating and Disfiguring Rare Disease): The birth rate is the number of live births per 1,000 in a population in a year or a specific period of time. The birth rate varies drastically by country. [Electronic resource]: https://worldpopulationreview.com/country-rankings/birth-rate-by-country (appeal date 11.05.2021).Friedrich R.E., Schmelzle R., Hartmann M., Funsterer C., Mautner V.-F. Resection of small plexiform neurofibromas in neurofibromatosis type 1 children. World J Surg Oncol 2005;3(1):6. doi: 10.1186/1477-7819-3-6.Friedrich R.E., Schmelzle R., Hartmann M., Funsterer C., Mautner V.-F. Resection of small plexiform neurofibromas in neurofibromatosis type 1 children. World J Surg Oncol 2005;3(1):6. doi: 10.1186/1477-7819-3-6.
The authors declare that there are no conflicts of interest present.