Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children28210.24287/1726-1708-2019-18-4-29-38ORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИOptic pathway gliomas associated with neurofibromatosis type I in childrenГлиомы зрительного пути на фоне нейрофиброматоза I типа у детейhttps://orcid.org/0000-0002-2977-665XValiakhmetovaE. F.ВалиахметоваЭ. Ф.
Russian Federation

Correspondence: Endge F. Valiakhmetova, MD,pediatric oncologist, N.N.Burdenko National Medical Research Center of neurosurgery Ministry of Healthcare of Russian Federation.

Address: Russia 125047, Moscow, 4th Tverskaya-Yamskaya st., 16

Контактная информация: Валиахметова Эндже Фаварисовна, врач – детский онколог, Национальный медицинский исследовательский центр нейрохирургии

им. академика Н.Н. Бурденко.

Адрес: 125047, Москва, 4-я Тверская-Ямская ул., 16

andgeval@gmail.comMazerkinaN. A.МазеркинаН. А.
Russian Federation

Moscow

Москва

MedvedevaO. A.МедведеваО. А.
Russian Federation

Moscow

Москва

TruninY. Y.ТрунинЮ. Ю.
Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-1332-9123TarasovaE. M.ТарасоваЕ. М.
Russian Federation

Moscow

Москва

LasarevaL. A.ЛазареваЛ. А.
Russian Federation

Moscow

Москва

ShiskinaL. V.ШишкинаЛ. В.
Russian Federation

Moscow

Москва

SerovaN. K.СероваН. К.
Russian Federation

Moscow

Москва

GorelyshevS. K.ГорелышевС. К.
Russian Federation

Moscow

Москва

N.N. Burdenko National Medical Research Center of neurosurgery Ministry of Healthcare of Russian FederationФГАУ «Национальный медицинский исследовательский центр нейрохирургии имени академика Н.Н. Бурденко» Минздрава РоссииRussian Children's Clinical Hospital of the Pirogov Russian National Research Medical University of the Ministry of Healthcare of the Russian FederationРоссийская детская клиническая больница ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииN.I. Pirogov Russian National Research Medical UniversityФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России3112201918429382912201929122019Copyright ©; 2019, «D. Rogachev NMRCPHOI»Copyright ©; 2019, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2019«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/282

Neurofibromatosis type I (NFI) is one of the most common brain tumor predisposition syndromes. Children with NFI are prone to develop a low grade gliomas, which can be localized in various areas of the brain, however, most of them occur in the structures of the optic pathway: optic nerves, chiasm, tracts and optic radiations – that is, are optic pathway gliomas (OPG). This retrospective study included children with newly diagnosied low grade glioma of the optic pathway at the age from 0 to 18 years with NFI, who underwent medical examination and / or treatment at the Burdenko Neurosurgery Institute from January 1, 2003 till December 31,2015. Atotal from 264 patients 42 (16%) had clinical manifestations of NFI. The ratio of boys and girls was 1:1. The median age was 4.25 years (range 4.5 months – 17 years). Visual disturbances were the most frequent clinical manifestation of the tumor. Surgical resection was performed in 18 patients. The remaining 24 patients OPG were diagnosed based on clinical and radiological findings: 9 patients were in observation group, 11 patients chemotherapy was carried out, three were given radiation therapy, and spontaneous regression of the tumor was recorded in 1 patient. Progression of the disease was observed in 14 patients in our cohort. The overall survival rate in patients with NFI was 98 ± 2% at 5 years. Event free survival rate was 68 ± 7% at 5 years.

The study was approved by the Independent Ethics Committee of N.N. Burdenko National Medical Research Center of neurosurgery Ministry of healthcare ofRussian Federation.

Нейрофиброматоз типа I (НФI) – один из наиболее распространенных синдромов предрасположенности к опухолям головного мозга. У детей с НФI наиболее часто возникают глиомы низкой степени злокачественности, которые могут локализоваться в различных областях головного мозга, однако большинство из них возникает в структурах зрительного пути: зрительных нервах, хиазме, трактах и зрительной лучистости, то есть являются глиомами зрительного пути (ГЗП). В данное ретроспективное исследование вошли дети с впервые выставленным диагнозом «глиома низкой степени злокачественности зрительного пути» в возрасте от 0 до 18 лет с НФI, проходившие обследование и/или лечение в НМИЦ нейрохирургии им. академика Н.Н. Бурденко в период с 1 января 2003 по 31 декабря 2015 года. Всего из 264 пациентов у 42 (16%) были клинические проявления НФI. Соотношение мальчиков и девочек – 1:1. Медиана возраста – 4,25 года (от 4,5 мес. до 17 лет). В момент манифестации заболевания зрительные нарушения были самым частым клиническим проявлением опухоли. Хирургическое удаление выполнено у 18 пациентов; на основании клинико-рентгенологических данных диагноз «глиома зрительного пути» выставлен у 24, в том числе 9 пациентов находились на динамическом наблюдении; химиотерапия проведена у 11, лучевая терапия – у 3 пациентов; у одного пациента зарегистрирован спонтанный регресс опухоли. Продолженный рост опухоли наблюдался у 14 пациентов. Общая 5-летняя выживаемость у пациентов с НФI составила 98 ± 2%; бессобытийная 5-летняя выживаемость – 68 ± 7%. Данное исследование одобрено Независимым этическим комитетом и утверждено решением Ученого совета НМИЦ нейрохирургии им. академика Н.Н. Бурденко Минздрава России.

optic pathway gliomaschildrenneurofibromatosis type Iглиомы зрительного путидетинейрофиброматоз I типаMichel V. About hyperplasia of the chiasm and the right optic nerve in the context of elephantiasis. Arch. Ophthalmology 1873; 19: 145–64.2. Singhal S., Birch J.M., Kerr B., Lashford L., Evans D.G.R. Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child 2002; 1 (87): 65–70.Singhal S., Birch J.M., Kerr B., Lashford L., Evans D.G.R. Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child 2002; 1 (87): 65–70.3. Sharif S., Ferner R., Birch J.M., Gillespie J.E., Gattamaneni H.R., Baser M.E., et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: Substantial risks after radiotherapy. J Clin Oncol 2006; 16 (24): 2570–5.Sharif S., Ferner R., Birch J.M., Gillespie J.E., Gattamaneni H.R., Baser M.E., et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: Substantial risks after radiotherapy. J Clin Oncol 2006; 16 (24): 2570–5.4. Козлов А.В. Нейрофиброматоз 1 (НФ1). Хирургия опухолей основания черепа. Под ред. А.Н. Коновалова. – М., 2004; ОАО «Можайский полиграфический комбинат»: 166–9.Козлов А.В. Нейрофиброматоз 1 (НФ1). Хирургия опухолей основания черепа. Под ред. А.Н. Коновалова. – М., 2004; ОАО «Можайский полиграфический комбинат»: 166–9.5. Czyzyk E., Jóźwiak S., Roszkowski M., Schwartz R.A. Optic pathway gliomas in children with and without neurofibromatosis 1. J Child Neurology 2003; 3 (18): 471–8.Czyzyk E., Jóźwiak S., Roszkowski M., Schwartz R.A. Optic pathway gliomas in children with and without neurofibromatosis 1. J Child Neurology 2003; 3 (18): 471–8.6. Arun D., Gutmann D.H. Recent advances in neurofibromatosis type 1. Curr Opin Neurology 2004; 2 (17): 101–5.Arun D., Gutmann D.H. Recent advances in neurofibromatosis type 1. Curr Opin Neurology 2004; 2 (17): 101–5.7. Guillamo J.S., Creange A., Kalifa C., Grill J., Rodriguez D., Doz F., et al. Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): A retrospective study of 104 patients. Brain 2003; 1 (126): 152–60.Guillamo J.S., Creange A., Kalifa C., Grill J., Rodriguez D., Doz F., et al. Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): A retrospective study of 104 patients. Brain 2003; 1 (126): 152–60.8. Listernick R., Charrow J., Tomita T., Goldman S. Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1. J Neurooncology 1999; 2 (45): 185–90.Listernick R., Charrow J., Tomita T., Goldman S. Carboplatin therapy for optic pathway tumors in children with neurofibromatosis type-1. J Neurooncology 1999; 2 (45): 185–90.9. Walker L., Thompson D., Easton D., Ponder B., Ponder M., Frayling I., et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 2006; 2 (95): 233–8.Walker L., Thompson D., Easton D., Ponder B., Ponder M., Frayling I., et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 2006; 2 (95): 233–8.10. Rosser T., Packer R.J. Intracranial neoplasms in children with neurofibromatosis 1 2002. J Child Neurology 2002; 8 (17): 630–7.Rosser T., Packer R.J. Intracranial neoplasms in children with neurofibromatosis 1 2002. J Child Neurology 2002; 8 (17): 630–7.11. Nicolin G., Parkin P., Mabbott D., Hargrave D., Bartels U., Tabori U., et al. Natural history and outcome of optic pathway gliomas in children. Pediatr. Blood Cancer 2009; 7 (53): 1231–7.Nicolin G., Parkin P., Mabbott D., Hargrave D., Bartels U., Tabori U., et al. Natural history and outcome of optic pathway gliomas in children. Pediatr. Blood Cancer 2009; 7 (53): 1231–7.12. National Institutes of Health Consensus Development Conference. Neurofibromatosis. Conference statement in Arch Neurology 1988; 45: 575–8.National Institutes of Health Consensus Development Conference. Neurofibromatosis. Conference statement in Arch Neurology 1988; 45: 575–8.13. Валиахметова Э.Ф., Холодов Б.В., Горелышев С.К. Глиомы зрительного пути у детей. Обзор литературы часть I: диагностика и клиническая картина. Нейрохирургия и неврология детского возраста 2018; 1 (55): 8–18.Валиахметова Э.Ф., Холодов Б.В., Горелышев С.К. Глиомы зрительного пути у детей. Обзор литературы часть I: диагностика и клиническая картина. Нейрохирургия и неврология детского возраста 2018; 1 (55): 8–18.14. Валиахметова Э.Ф., Быданов О.И., Горелышев С.К., Серова Н.К., Лазарева Л.А., Шишкина Л.В. и др. Глиомы зрительного пути у детей: прогностические факторы, оценка ответа и роль двухкомпонентной химиотерапии. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2019; 1 (18): 62–72.Валиахметова Э.Ф., Быданов О.И., Горелышев С.К., Серова Н.К., Лазарева Л.А., Шишкина Л.В. и др. Глиомы зрительного пути у детей: прогностические факторы, оценка ответа и роль двухкомпонентной химиотерапии. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2019; 1 (18): 62–72.15. Listernick R., Ferner R.E., Liu G.T., Gutmann D.H. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurology 2007; 3 (61): 189–98.Listernick R., Ferner R.E., Liu G.T., Gutmann D.H. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurology 2007; 3 (61): 189–98.16. Diggs-Andrews K.A., Brown J.A., Gianino S.M., Rubin J.B., Wozniak D.F., Gutmann D.H. Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann. Neurology 2014; 2 (75): 309–16.Diggs-Andrews K.A., Brown J.A., Gianino S.M., Rubin J.B., Wozniak D.F., Gutmann D.H. Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann. Neurology 2014; 2 (75): 309–16.17. Blanchard G., Lafforgue M-P., Lionfranc L., Kemlin I., Rodriguez D., Castelnau P., et al. Original article Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort. Eur J Paediatr Neurology 2016; 20: 275–81.Blanchard G., Lafforgue M-P., Lionfranc L., Kemlin I., Rodriguez D., Castelnau P., et al. Original article Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort. Eur J Paediatr Neurology 2016; 20: 275–81.18. Listernick R., Louis D.N., Packer R.J., Gutmann D.H. Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 optic pathway glioma task force. Am J Ophthalmology 1997; 2 (124): 274.Listernick R., Louis D.N., Packer R.J., Gutmann D.H. Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 optic pathway glioma task force. Am J Ophthalmology 1997; 2 (124): 274.19. Listernick R., Darling C., Greenwald M., Strauss L., Charrow J. Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr 1995; 5 (127): 718–22.Listernick R., Darling C., Greenwald M., Strauss L., Charrow J. Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr 1995; 5 (127): 718–22.20. King A., Listernick R., Charrow J., Piersall L., Gutmann D.H. Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet A 2003; 2 (122A): 95–9.King A., Listernick R., Charrow J., Piersall L., Gutmann D.H. Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet A 2003; 2 (122A): 95–9.21. Kilday J.P., Bartels U., Huang A., Barron M., Shago M., Mistry M., et al. Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. J Neurooncol 2014; 1 (116): 195–204.Kilday J.P., Bartels U., Huang A., Barron M., Shago M., Mistry M., et al. Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. J Neurooncol 2014; 1 (116): 195–204.22. Fisher M.J., Loguidice M., Gutmann D.H., Listernick R., Ferner R.E., Ullrich N.J., et al. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. J Neurooncol 2012; 6 (14): 790–7.Fisher M.J., Loguidice M., Gutmann D.H., Listernick R., Ferner R.E., Ullrich N.J., et al. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. J Neurooncol 2012; 6 (14): 790–7.23. Sellmer L., Farschtschi S., Marangoni M., Heran M.K.S., Birch P., Wenzel R., et al. Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1. Orphanet Journal of Rare Diseases 2018; 13 (62): 1–9.Sellmer L., Farschtschi S., Marangoni M., Heran M.K.S., Birch P., Wenzel R., et al. Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1. Orphanet Journal of Rare Diseases 2018; 13 (62): 1–9.24. Allen J.C. Initial Management of Children with Hypothalamic and Thalamic Tumors and the Modifying Role of Neurofibromatosis-1. Pediatr Neurosurgery 2000; 32: 154–62.Allen J.C. Initial Management of Children with Hypothalamic and Thalamic Tumors and the Modifying Role of Neurofibromatosis-1. Pediatr Neurosurgery 2000; 32: 154–62.25. Hernaiz Driever P., Von Hornstein S., Pietsch T., Kortmann R., WarmuthMetz M., Emser A., et al. Natural history and management of low-grade glioma in NF-1 children. J. Neurooncology 2010; 2 (100): 99–207.Hernaiz Driever P., Von Hornstein S., Pietsch T., Kortmann R., WarmuthMetz M., Emser A., et al. Natural history and management of low-grade glioma in NF-1 children. J. Neurooncology 2010; 2 (100): 99–207.26. Leonard J.R., Perry A., Rubin J.B., King A.A., Chicoine M.R., Gutmann D.H. The role of surgical biopsy in the diagnosis of glioma in individuals with neurofibromatosis-1. Neurology 2006; 8 (67): 1509–12.Leonard J.R., Perry A., Rubin J.B., King A.A., Chicoine M.R., Gutmann D.H. The role of surgical biopsy in the diagnosis of glioma in individuals with neurofibromatosis-1. Neurology 2006; 8 (67): 1509–12.27. Janss A., Grundy R., Cnaan A., Savino P.J., Packer R.J., Zackai E.H., et al. Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-up. Cancer 1995; 4 (75): 1051–9.Janss A., Grundy R., Cnaan A., Savino P.J., Packer R.J., Zackai E.H., et al. Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-up. Cancer 1995; 4 (75): 1051–9.28. Laithier V., Grill J., Deley L., Ruchoux M.-M., Couanet D., Pichon F., et al. Progression-Free Survival in Children With Optic Pathway Tumors : Dependence on Age and the Quality of the Response to Chemotherapy – Results of the First French Prospective Study for the French Society of Pediatric Oncology. Oncology 2003; 21 (24): 4572–8.Laithier V., Grill J., Deley L., Ruchoux M.-M., Couanet D., Pichon F., et al. Progression-Free Survival in Children With Optic Pathway Tumors : Dependence on Age and the Quality of the Response to Chemotherapy – Results of the First French Prospective Study for the French Society of Pediatric Oncology. Oncology 2003; 21 (24): 4572–8.29. Packer R.J., Ater J., Allen J., Phillips P., Geyer R., Nicholson H.S., et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. Journal of neurosurgery 1997; 5 (86): 747–54.Packer R.J., Ater J., Allen J., Phillips P., Geyer R., Nicholson H.S., et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. Journal of neurosurgery 1997; 5 (86): 747–54.30. Ullrich N.J., Robertson R., Kinnamon D.D., Scott R.M., Kieran M.W., Turner C.D., et al. Moyamoya following cranial irradiation for primary brain tumors in children. Neurology 2007; 12 (68): 932–8.Ullrich N.J., Robertson R., Kinnamon D.D., Scott R.M., Kieran M.W., Turner C.D., et al. Moyamoya following cranial irradiation for primary brain tumors in children. Neurology 2007; 12 (68): 932–8.31. Parsa C.F., Hoyt C.S., Lesser R.L., Weinstein J.M., Strother C.M., Muci-Mendoza R., et al. Spontaneous Regression of Optic Gliomas: thirteen cases documented by serial neuroimaging. Arch Ophthalmology 2001; 4 (119): 516–29.Parsa C.F., Hoyt C.S., Lesser R.L., Weinstein J.M., Strother C.M., Muci-Mendoza R., et al. Spontaneous Regression of Optic Gliomas: thirteen cases documented by serial neuroimaging. Arch Ophthalmology 2001; 4 (119): 516–29.32. Piccirilli M., Lenzi J., Delfinis C., Trasimeni G., Salvati M., Raco A. Spontaneous regression of optic pathways gliomas in three patients with neurofibromatosis type I and critical review of the literature. Child’s Nerv System 2006; 22: 1332–7.Piccirilli M., Lenzi J., Delfinis C., Trasimeni G., Salvati M., Raco A. Spontaneous regression of optic pathways gliomas in three patients with neurofibromatosis type I and critical review of the literature. Child’s Nerv System 2006; 22: 1332–7.33. Dodge H., Lowe J., Craigh W., Dockerty M., Kearns T., Holman C.B., et al. Glioma of the optic nerves. Arch Neurol Psych 1958; 79: 607–21.Dodge H., Lowe J., Craigh W., Dockerty M., Kearns T., Holman C.B., et al. Glioma of the optic nerves. Arch Neurol Psych 1958; 79: 607–21.34. Taylor T., Jaspan T., Milano G., Gregson R., Parker T., Ritzmann T., et al. Radiological classification of optic pathway gliomas: Experience of a modified functional classification system. Br J Radiology 2008; 81: 761–6.Taylor T., Jaspan T., Milano G., Gregson R., Parker T., Ritzmann T., et al. Radiological classification of optic pathway gliomas: Experience of a modified functional classification system. Br J Radiology 2008; 81: 761–6.35. Walker D.A., Liu J., Kieran M., Jabado N., Picton S., Packer R.J., et al. A multidisciplinary consensus statement concerning surgical approaches to low-grade, high-grade astrocytomas and diffuse intrinsic pontine gliomas in childhood (CPN Paris 2011) using the Delphi method. Neurooncology 2013; 4 (15): 462–8.Walker D.A., Liu J., Kieran M., Jabado N., Picton S., Packer R.J., et al. A multidisciplinary consensus statement concerning surgical approaches to low-grade, high-grade astrocytomas and diffuse intrinsic pontine gliomas in childhood (CPN Paris 2011) using the Delphi method. Neurooncology 2013; 4 (15): 462–8.