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<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Pediatric Hematology/Oncology and Immunopathology</journal-id><journal-title-group><journal-title xml:lang="en">Pediatric Hematology/Oncology and Immunopathology</journal-title><trans-title-group xml:lang="ru"><trans-title>Вопросы гематологии/онкологии и иммунопатологии в педиатрии</trans-title></trans-title-group></journal-title-group><issn publication-format="print">1726-1708</issn><issn publication-format="electronic">2414-9314</issn><publisher><publisher-name xml:lang="en">Fund Doctors, Innovations, Science for Children</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">293</article-id><article-id pub-id-type="doi">10.24287/1726-1708-2019-18-4-109-117</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>LITERATURE REVIEW</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>ОБЗОР ЛИТЕРАТУРЫ</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">Molecular genetic features of pediatric gliomas</article-title><trans-title-group xml:lang="ru"><trans-title>Молекулярно-генетические характеристики глиом у детей</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Zaytseva</surname><given-names>M. A.</given-names></name><name xml:lang="ru"><surname>Зайцева</surname><given-names>М. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p/><p><bold>Correspondence</bold>: Margarita A. Zaytseva, MD, clinical laboratory diagnostics, laboratory of molecular oncology of Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation.</p><italic>Address: Russia 117997, Moscow, Samory Mashela st., 1</italic></bio><bio xml:lang="ru"><p/><p><bold>Контактная информация</bold>: Зайцева Маргарита Алексеевна, врач клинической лабораторной диагностики лаборатории молекулярной онкологии НМИЦ детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава России.</p><italic>Адрес: 117997, Москва, ГСП-7, ул. Саморы Машела, 1</italic></bio><email>astice@list.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Yasko</surname><given-names>L. A.</given-names></name><name xml:lang="ru"><surname>Ясько</surname><given-names>Л. А.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p><italic>Moscow</italic></p></bio><bio xml:lang="ru"><p><italic>Москва</italic></p></bio><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Papusha</surname><given-names>L. I.</given-names></name><name xml:lang="ru"><surname>Папуша</surname><given-names>Л. И.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p><italic>Moscow</italic></p></bio><bio xml:lang="ru"><p><italic>Москва</italic></p></bio><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Druy</surname><given-names>A. E.</given-names></name><name xml:lang="ru"><surname>Друй</surname><given-names>А. Е.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p><italic>Moscow, <italic>Yekaterinburg</italic></italic></p></bio><bio xml:lang="ru"><p><italic>Москва</italic></p></bio><xref ref-type="aff" rid="aff1"/><xref ref-type="aff" rid="aff2"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology Ministry of Healthcare of Russian Federation</institution></aff><aff><institution xml:lang="ru">ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России</institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">Research Institute of Medical Cell Technologies</institution></aff><aff><institution xml:lang="ru">ГАУЗ СО «Институт медицинских клеточных технологий»</institution></aff></aff-alternatives><pub-date date-type="pub" iso-8601-date="2019-12-31" publication-format="electronic"><day>31</day><month>12</month><year>2019</year></pub-date><volume>18</volume><issue>4</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><fpage>109</fpage><lpage>117</lpage><history><date date-type="received" iso-8601-date="2019-12-31"><day>31</day><month>12</month><year>2019</year></date><date date-type="accepted" iso-8601-date="2019-12-31"><day>31</day><month>12</month><year>2019</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2019, «D. Rogachev NMRCPHOI»</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2019, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России</copyright-statement><copyright-year>2019</copyright-year><copyright-holder xml:lang="en">«D. Rogachev NMRCPHOI»</copyright-holder><copyright-holder xml:lang="ru">ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://hemoncim.com/jour/article/view/293">https://hemoncim.com/jour/article/view/293</self-uri><abstract xml:lang="en"><p>Gliomas are the most common central nervous system tumors demonstrating an extremely broad range of clinical behavior. Over last few decades the understanding of molecular genetic mechanisms of tumor initiation and progression increased significantly. Furthermore, the identification of prognostic and predictive biomarkers aids the development of personalized and risk-adapted therapeutic approaches. In this review, we summarize the molecular findings in pediatric gliomas, both low and high grade (LGG and HGG), focusing on recurrent somatic mutations. There are nucleotide substitutions in <italic>BRAF, H3F3A, Hist1H3B/</italic><italic>С</italic><italic>, IDH1/2 </italic>genes, <italic>BRAF</italic> and <italic>NTRK1/2/3</italic> fusions, and <italic>CDKN2A/B</italic> copy-number aberrations, known to be clinically relevant in the prognosis defining or predicting the efficacy of targeted therapy. We also describe how these findings could pave the way towards the novel genetic classification and risk-group stratification for pediatric patients with glial tumors.</p></abstract><trans-abstract xml:lang="ru"><p>Глиомы – самые распространенные опухоли центральной нервной системы с чрезвычайно вариабельным клиническим течением. Широкое распространение высокопроизводительных технологий в исследовательской практике позволило расширить знания о молекулярной биологии глиальных опухолей, а также определить новые патогенетические и прогностические маркеры для подбора персонализированной противоопухолевой терапии. В обзоре обсуждается роль соматических мутаций в генах <italic>BRAF, H3F3A, Hist1H3B/С, IDH1/2</italic>, транслокаций с участием генов <italic>BRAF, NTRK1/2/3</italic> и нарушений числа копий генов <italic>CDKN2A/B</italic> в патогенезе глиом у детей, а также возможность стратификации пациентов на группы риска в соответствии с прогностической значимостью патогенных вариантов.</p></trans-abstract><kwd-group xml:lang="en"><kwd>children</kwd><kwd>gliomas</kwd><kwd>molecular markers</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>дети</kwd><kwd>глиомы</kwd><kwd>молекулярные маркеры</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Ostrom Q.T., Gittleman H., Truitt G., Boscia A., Kruchko C., Barnholtz-Sloan J.S. CBTRUS Statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2011–2015. Neuro Oncol 2018; 20: iv1-iv86.</mixed-citation></ref><ref id="B2"><label>2.</label><citation-alternatives><mixed-citation xml:lang="en">2.	Louis D.N., Perry A., Reifenberger G., von Deimling A., Figarella-Branger D., Cavenee W.K., et al. The 2016 World Health Organization classification of tumors of the Central Nervous System: a summary. Acta Neuropathol 2016; 131: 803–20.</mixed-citation><mixed-citation xml:lang="ru">Louis D.N., Perry A., Reifenberger G., von Deimling A., Figarella-Branger D., Cavenee W.K., et al. The 2016 World Health Organization classification of tumors of the Central Nervous System: a summary. Acta Neuropathol 2016; 131: 803–20.</mixed-citation></citation-alternatives></ref><ref id="B3"><label>3.</label><citation-alternatives><mixed-citation xml:lang="en">3.	Lassaletta A., Zapotocky M., Mistry M., Ramaswamy V., Honnorat M., Krishnatry R., et al. Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas. J Clin Oncol 2017; 35 (25): 2934–41.</mixed-citation><mixed-citation xml:lang="ru">Lassaletta A., Zapotocky M., Mistry M., Ramaswamy V., Honnorat M., Krishnatry R., et al. Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas. J Clin Oncol 2017; 35 (25): 2934–41.</mixed-citation></citation-alternatives></ref><ref id="B4"><label>4.</label><citation-alternatives><mixed-citation xml:lang="en">4.	Eisenhardt A.E., Olbrich H., Röring M., Janzarik W., Anh T.N., Cin H., et al. Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma. Int J Cancer 2011 Nov 1; 129 (9): 2297–303.</mixed-citation><mixed-citation xml:lang="ru">Eisenhardt A.E., Olbrich H., Röring M., Janzarik W., Anh T.N., Cin H., et al. Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma. Int J Cancer 2011 Nov 1; 129 (9): 2297–303.</mixed-citation></citation-alternatives></ref><ref id="B5"><label>5.</label><citation-alternatives><mixed-citation xml:lang="en">5.	Penman C.L., Faulkner C., Lowis S.P., Kurian K.M. Current Understanding of BRAF Alterations in Diagnosis, Prognosis, and Therapeutic Targeting in Pediatric Low-Grade Gliomas. Front Oncol 2015; 5: 54–64.</mixed-citation><mixed-citation xml:lang="ru">Penman C.L., Faulkner C., Lowis S.P., Kurian K.M. Current Understanding of BRAF Alterations in Diagnosis, Prognosis, and Therapeutic Targeting in Pediatric Low-Grade Gliomas. Front Oncol 2015; 5: 54–64.</mixed-citation></citation-alternatives></ref><ref id="B6"><label>6.</label><citation-alternatives><mixed-citation xml:lang="en">6.	Sturm D., Pfister S.M., Jones D.T.W. Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management. J Clin Oncol 2017; 35 (21): 2370–7.</mixed-citation><mixed-citation xml:lang="ru">Sturm D., Pfister S.M., Jones D.T.W. Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management. J Clin Oncol 2017; 35 (21): 2370–7.</mixed-citation></citation-alternatives></ref><ref id="B7"><label>7.</label><citation-alternatives><mixed-citation xml:lang="en">7.	Gierke M., Sperveslage J., Schwab D., Beschorner R., Ebinger M., Schuhmann M.U., et al. Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549–BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification. J Cancer Res Clin Oncol 2016; 142 (1): 89–100.</mixed-citation><mixed-citation xml:lang="ru">Gierke M., Sperveslage J., Schwab D., Beschorner R., Ebinger M., Schuhmann M.U., et al. Analysis of IDH1-R132 mutation, BRAF V600 mutation and KIAA1549–BRAF fusion transcript status in central nervous system tumors supports pediatric tumor classification. J Cancer Res Clin Oncol 2016; 142 (1): 89–100.</mixed-citation></citation-alternatives></ref><ref id="B8"><label>8.</label><citation-alternatives><mixed-citation xml:lang="en">8.	Schindler G., Capper D., Meyer J., Janzarik W., Omran H., Herold-Mende C., et al. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 2011; 121 (3): 397–405.</mixed-citation><mixed-citation xml:lang="ru">Schindler G., Capper D., Meyer J., Janzarik W., Omran H., Herold-Mende C., et al. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol 2011; 121 (3): 397–405.</mixed-citation></citation-alternatives></ref><ref id="B9"><label>9.</label><citation-alternatives><mixed-citation xml:lang="en">9.	Jones D.T., Hutter B., Jäger N., Korshunov A., Kool M., Warnatz H.J., et al. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 2013 Aug; 45 (8): 927–32.</mixed-citation><mixed-citation xml:lang="ru">Jones D.T., Hutter B., Jäger N., Korshunov A., Kool M., Warnatz H.J., et al. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 2013 Aug; 45 (8): 927–32.</mixed-citation></citation-alternatives></ref><ref id="B10"><label>10.</label><citation-alternatives><mixed-citation xml:lang="en">10.	Zhang J., Wu G., Miller C.P., Tatevossian R.G., Dalton J.D., Tang B., et al. Whole-Genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nature Gene 2013; 45 (6): 602–12.</mixed-citation><mixed-citation xml:lang="ru">Zhang J., Wu G., Miller C.P., Tatevossian R.G., Dalton J.D., Tang B., et al. Whole-Genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nature Gene 2013; 45 (6): 602–12.</mixed-citation></citation-alternatives></ref><ref id="B11"><label>11.</label><citation-alternatives><mixed-citation xml:lang="en">11.	Forshew T., Tatevosslan R.G., Lawson A.R.J., Ma J., Neale G., Ogunkolade B.W., et al. Activation of the ERK/MAPK pathway: a signature genetic defect in posterior fossa pilocytic astrocytomas. J Pathol 2009; 218 (2): 172–81.</mixed-citation><mixed-citation xml:lang="ru">Forshew T., Tatevosslan R.G., Lawson A.R.J., Ma J., Neale G., Ogunkolade B.W., et al. Activation of the ERK/MAPK pathway: a signature genetic defect in posterior fossa pilocytic astrocytomas. J Pathol 2009; 218 (2): 172–81.</mixed-citation></citation-alternatives></ref><ref id="B12"><label>12.</label><citation-alternatives><mixed-citation xml:lang="en">12. Dahiya S., Yu J., Kaul A., Leonard J.R., Gutmann D.H. Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma. Case Rep Med 2012; 418672.</mixed-citation><mixed-citation xml:lang="ru">Dahiya S., Yu J., Kaul A., Leonard J.R., Gutmann D.H. Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma. Case Rep Med 2012; 418672.</mixed-citation></citation-alternatives></ref><ref id="B13"><label>13.</label><citation-alternatives><mixed-citation xml:lang="en">13.	Lin A., Rodriguez F.J., Karajannis M.A., Williams S.C., Legault G., Zagzag D., et al. BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants. J Neuropathol Exp Neurol 2012; 71 (1): 66–72.</mixed-citation><mixed-citation xml:lang="ru">Lin A., Rodriguez F.J., Karajannis M.A., Williams S.C., Legault G., Zagzag D., et al. BRAF alterations in primary glial and glioneuronal neoplasms of the central nervous system with identification of 2 novel KIAA1549:BRAF fusion variants. J Neuropathol Exp Neurol 2012; 71 (1): 66–72.</mixed-citation></citation-alternatives></ref><ref id="B14"><label>14.</label><citation-alternatives><mixed-citation xml:lang="en">14.	Jones D.T., Kocialkowski S., Liu L., Pearson D.M., Ichimura K., Collins V.P. Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma. Oncogene 2009; 28 (20): 2119–23.</mixed-citation><mixed-citation xml:lang="ru">Jones D.T., Kocialkowski S., Liu L., Pearson D.M., Ichimura K., Collins V.P. Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma. Oncogene 2009; 28 (20): 2119–23.</mixed-citation></citation-alternatives></ref><ref id="B15"><label>15.</label><citation-alternatives><mixed-citation xml:lang="en">15.	Helgager J., Lidov H.G., Mahadevan N.R., Kieran M.W., Ligon K.L., Alexandrescu S. A novel GIT2-BRAF fusion in pilocytic astrocytoma. Diagn Pathol 2017; 12 (1): 82–7.</mixed-citation><mixed-citation xml:lang="ru">Helgager J., Lidov H.G., Mahadevan N.R., Kieran M.W., Ligon K.L., Alexandrescu S. A novel GIT2-BRAF fusion in pilocytic astrocytoma. Diagn Pathol 2017; 12 (1): 82–7.</mixed-citation></citation-alternatives></ref><ref id="B16"><label>16.</label><citation-alternatives><mixed-citation xml:lang="en">16.	Cin H., Meyer C., Herr R., Janzarik W.G., Lambert S., Jones D.T., et al. Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol 2011; 121 (6): 763–74.</mixed-citation><mixed-citation xml:lang="ru">Cin H., Meyer C., Herr R., Janzarik W.G., Lambert S., Jones D.T., et al. Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol 2011; 121 (6): 763–74.</mixed-citation></citation-alternatives></ref><ref id="B17"><label>17.</label><citation-alternatives><mixed-citation xml:lang="en">17.	Hawkins C., Walker E., Mohamed N., Zhang C., Jacob K., Shirinian M., et al. BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low grade astrocytoma. Clin Cancer Res 2011;</mixed-citation><mixed-citation xml:lang="ru">Hawkins C., Walker E., Mohamed N., Zhang C., Jacob K., Shirinian M., et al. BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low grade astrocytoma. Clin Cancer Res 2011;</mixed-citation></citation-alternatives></ref><ref id="B18"><label>18.</label><citation-alternatives><mixed-citation xml:lang="en">18.	Tateishi K., Nakamura T., Yamamoto T. Molecular genetics and therapeutic tagets of pediatric low-grade gliomas. Brain Tumor Pathol 2019 Apr; 36 (2): 74–83.</mixed-citation><mixed-citation xml:lang="ru">Tateishi K., Nakamura T., Yamamoto T. Molecular genetics and therapeutic tagets of pediatric low-grade gliomas. Brain Tumor Pathol 2019 Apr; 36 (2): 74–83.</mixed-citation></citation-alternatives></ref><ref id="B19"><label>19.</label><citation-alternatives><mixed-citation xml:lang="en">19.	Rodriguez E.F., Scheithauer B.W., Giannini C., Rynearson A., Cen L., Hoesley B., et al. PI3K/AKT pathway alterations are associated with clinically aggressive and histologically anaplastic subsets of pilocytic astrocytoma. Acta Neuropathol 2011; 121 (3): 407–20.</mixed-citation><mixed-citation xml:lang="ru">Rodriguez E.F., Scheithauer B.W., Giannini C., Rynearson A., Cen L., Hoesley B., et al. PI3K/AKT pathway alterations are associated with clinically aggressive and histologically anaplastic subsets of pilocytic astrocytoma. Acta Neuropathol 2011; 121 (3): 407–20.</mixed-citation></citation-alternatives></ref><ref id="B20"><label>20.</label><citation-alternatives><mixed-citation xml:lang="en">20.	Horbinski C., Nikiforova M.N., Hagenkord J.M., Hamilton R.L., Pollack I.F. Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomas. Neuro Oncol 2012; 14 (6): 777–89.</mixed-citation><mixed-citation xml:lang="ru">Horbinski C., Nikiforova M.N., Hagenkord J.M., Hamilton R.L., Pollack I.F. Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomas. Neuro Oncol 2012; 14 (6): 777–89.</mixed-citation></citation-alternatives></ref><ref id="B21"><label>21.</label><citation-alternatives><mixed-citation xml:lang="en">21.	Frazão L., do Carmo Martins M., Nunes V.M., Pimentel J., Faria C., Miguéns J., et al. BRAF V600E mutation and 9p21: CDKN2A/B and MTAP co-deletions – Markers in the clinical stratification of pediatric gliomas. BMC Cancer 2018; 18 (1): 1259.</mixed-citation><mixed-citation xml:lang="ru">Frazão L., do Carmo Martins M., Nunes V.M., Pimentel J., Faria C., Miguéns J., et al. BRAF V600E mutation and 9p21: CDKN2A/B and MTAP co-deletions – Markers in the clinical stratification of pediatric gliomas. BMC Cancer 2018; 18 (1): 1259.</mixed-citation></citation-alternatives></ref><ref id="B22"><label>22.</label><citation-alternatives><mixed-citation xml:lang="en">22.	López G.Y., Perry A., Harding B., Li M., Santi M. CDKN2A/B Loss Is Associated with Anaplastic Transformation in a Case of NTRK2 Fusion-positive Pilocytic Astrocytoma. Neuropathol Appl Neurobiol 2019; 45 (2): 174–8.</mixed-citation><mixed-citation xml:lang="ru">López G.Y., Perry A., Harding B., Li M., Santi M. CDKN2A/B Loss Is Associated with Anaplastic Transformation in a Case of NTRK2 Fusion-positive Pilocytic Astrocytoma. Neuropathol Appl Neurobiol 2019; 45 (2): 174–8.</mixed-citation></citation-alternatives></ref><ref id="B23"><label>23.</label><citation-alternatives><mixed-citation xml:lang="en">23.	Schwartzentruber J., Korshunov A., Liu X.Y., Jones D.T., Pfaff E., Jacob K., et al. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature 2012; 482: 226–31.</mixed-citation><mixed-citation xml:lang="ru">Schwartzentruber J., Korshunov A., Liu X.Y., Jones D.T., Pfaff E., Jacob K., et al. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature 2012; 482: 226–31.</mixed-citation></citation-alternatives></ref><ref id="B24"><label>24.</label><citation-alternatives><mixed-citation xml:lang="en">24.	Wu G., Diaz A.K., Paugh B.S., Rankin S.L., Ju B., Li Y., et al. The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet 2014; 46 (5): 444–50.</mixed-citation><mixed-citation xml:lang="ru">Wu G., Diaz A.K., Paugh B.S., Rankin S.L., Ju B., Li Y., et al. The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet 2014; 46 (5): 444–50.</mixed-citation></citation-alternatives></ref><ref id="B25"><label>25.</label><citation-alternatives><mixed-citation xml:lang="en">25.	Stafford J.M., Lee C.H., Voigt P., Descostes N., Saldaña-Meyer R., Yu J.R., et al. Multiple modes of PRC2 inhibition elicit global chromatin alterations in H3K27M pediatric glioma. Sci Adv 2018; 4 (10): eaau5935.</mixed-citation><mixed-citation xml:lang="ru">Stafford J.M., Lee C.H., Voigt P., Descostes N., Saldaña-Meyer R., Yu J.R., et al. Multiple modes of PRC2 inhibition elicit global chromatin alterations in H3K27M pediatric glioma. Sci Adv 2018; 4 (10): eaau5935.</mixed-citation></citation-alternatives></ref><ref id="B26"><label>26.</label><citation-alternatives><mixed-citation xml:lang="en">26.	Sturm D., Witt H., Hovestadt V., Khuong-Quang D.A., Jones D.T., Konermann C., et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell 2012 Oct 16; 22 (4): 425–37.</mixed-citation><mixed-citation xml:lang="ru">Sturm D., Witt H., Hovestadt V., Khuong-Quang D.A., Jones D.T., Konermann C., et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell 2012 Oct 16; 22 (4): 425–37.</mixed-citation></citation-alternatives></ref><ref id="B27"><label>27.</label><citation-alternatives><mixed-citation xml:lang="en">27.	Kleinschmidt-DeMasters B.K., Mulcahy Levy J.M. H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis. Clin Neuropathol 2018; 37 (2): 53–63.</mixed-citation><mixed-citation xml:lang="ru">Kleinschmidt-DeMasters B.K., Mulcahy Levy J.M. H3 K27M-mutant gliomas in adults vs. children share similar histological features and adverse prognosis. Clin Neuropathol 2018; 37 (2): 53–63.</mixed-citation></citation-alternatives></ref><ref id="B28"><label>28.</label><citation-alternatives><mixed-citation xml:lang="en">28.	Khuong-Quang D.A., Buczkowicz P., Rakopoulos P., Liu X.Y., Fontebasso A.M., Bouffet E., et al. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol 2012; 124 (3): 439–47.</mixed-citation><mixed-citation xml:lang="ru">Khuong-Quang D.A., Buczkowicz P., Rakopoulos P., Liu X.Y., Fontebasso A.M., Bouffet E., et al. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol 2012; 124 (3): 439–47.</mixed-citation></citation-alternatives></ref><ref id="B29"><label>29.</label><citation-alternatives><mixed-citation xml:lang="en">29.	Solomon D., Wood M., Tihan T., Bollen A.W., Gupta N., Phillips J.J., et al. Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations. Brain Pathol 2015; 26 (5): 569–80.</mixed-citation><mixed-citation xml:lang="ru">Solomon D., Wood M., Tihan T., Bollen A.W., Gupta N., Phillips J.J., et al. Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations. Brain Pathol 2015; 26 (5): 569–80.</mixed-citation></citation-alternatives></ref><ref id="B30"><label>30.</label><citation-alternatives><mixed-citation xml:lang="en">30.	Castel D., Philippe C., Calmon R., Le Dret L., Truffaux N., Boddaert N., et al. Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes. Acta Neuropathol 2015; 130 (6): 815–27.</mixed-citation><mixed-citation xml:lang="ru">Castel D., Philippe C., Calmon R., Le Dret L., Truffaux N., Boddaert N., et al. Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes. Acta Neuropathol 2015; 130 (6): 815–27.</mixed-citation></citation-alternatives></ref><ref id="B31"><label>31.</label><citation-alternatives><mixed-citation xml:lang="en">31.	Wang L., Li Z., Zhang M., Piao Y., Chen L., Liang H., et al. H3 K27M-mutant diffuse midline gliomas in different anatomical locations. Hum Pathol 2018; 78: 89–96.</mixed-citation><mixed-citation xml:lang="ru">Wang L., Li Z., Zhang M., Piao Y., Chen L., Liang H., et al. H3 K27M-mutant diffuse midline gliomas in different anatomical locations. Hum Pathol 2018; 78: 89–96.</mixed-citation></citation-alternatives></ref><ref id="B32"><label>32.</label><citation-alternatives><mixed-citation xml:lang="en">32.	National Comprehensive Cancer Network (NCCN). NCCN clinical practice guidelines in oncology: central nervous system cancers. Version 2.2018. Режим доступа: [электронный ресурс] http://www.nccn.org/professionals/physician_gls/PDF/cns.pdf. (дата обращения 21.12.2018).</mixed-citation><mixed-citation xml:lang="ru">National Comprehensive Cancer Network (NCCN). NCCN clinical practice guidelines in oncology: central nervous system cancers. Version 2.2018. Режим доступа: [электронный ресурс] http://www.nccn.org/professionals/physician_gls/PDF/cns.pdf. (дата обращения 21.12.2018).</mixed-citation></citation-alternatives></ref><ref id="B33"><label>33.</label><citation-alternatives><mixed-citation xml:lang="en">33.	Schreck K.C., Ranjan S., Skorupan N., Bettegowda C., Eberhart C.G., Ames H.M., et al. Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas. J Neurooncol 2019; 143 (1): 87–93.</mixed-citation><mixed-citation xml:lang="ru">Schreck K.C., Ranjan S., Skorupan N., Bettegowda C., Eberhart C.G., Ames H.M., et al. Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas. J Neurooncol 2019; 143 (1): 87–93.</mixed-citation></citation-alternatives></ref><ref id="B34"><label>34.</label><citation-alternatives><mixed-citation xml:lang="en">34.	Ebrahimi A., Skardelly M., Schuhmann M.U., Ebinger M., Reuss D., Neumann M., et al. High frequency of H3 K27M mutations in adult midline gliomas. J Cancer Res Clin Oncol 2019; 145 (4): 839–50.</mixed-citation><mixed-citation xml:lang="ru">Ebrahimi A., Skardelly M., Schuhmann M.U., Ebinger M., Reuss D., Neumann M., et al. High frequency of H3 K27M mutations in adult midline gliomas. J Cancer Res Clin Oncol 2019; 145 (4): 839–50.</mixed-citation></citation-alternatives></ref><ref id="B35"><label>35.</label><citation-alternatives><mixed-citation xml:lang="en">35.	Meyronet D., Esteban-Mader M., Bonnet C., Joly M.O., Uro-Coste E., AmielBenouaich A., et al. Characteristics of H3 K27M-mutant gliomas in adults. Neuro Oncol 2017; 19 (8): 1127–34.</mixed-citation><mixed-citation xml:lang="ru">Meyronet D., Esteban-Mader M., Bonnet C., Joly M.O., Uro-Coste E., AmielBenouaich A., et al. Characteristics of H3 K27M-mutant gliomas in adults. Neuro Oncol 2017; 19 (8): 1127–34.</mixed-citation></citation-alternatives></ref><ref id="B36"><label>36.</label><citation-alternatives><mixed-citation xml:lang="en">36.	López G.Y., Oberheim Bush N.A., Phillips J.J., Bouffard J.P., Moshel Y.A., Jaeckle K., et al. Diffuse midline gliomas with subclonal H3F3A K27M mutation and mosaic H3.3 K27M mutant protein expression. Acta Neuropathol 2017; 134 (6): 961–3.</mixed-citation><mixed-citation xml:lang="ru">López G.Y., Oberheim Bush N.A., Phillips J.J., Bouffard J.P., Moshel Y.A., Jaeckle K., et al. Diffuse midline gliomas with subclonal H3F3A K27M mutation and mosaic H3.3 K27M mutant protein expression. Acta Neuropathol 2017; 134 (6): 961–3.</mixed-citation></citation-alternatives></ref><ref id="B37"><label>37.</label><citation-alternatives><mixed-citation xml:lang="en">37.	Pages M., Beccaria K., Boddaert N., Saffroy R., Besnard A., Castel D., et al. Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. Brain Pathol 2018; 28: 103–11.</mixed-citation><mixed-citation xml:lang="ru">Pages M., Beccaria K., Boddaert N., Saffroy R., Besnard A., Castel D., et al. Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. Brain Pathol 2018; 28: 103–11.</mixed-citation></citation-alternatives></ref><ref id="B38"><label>38.</label><citation-alternatives><mixed-citation xml:lang="en">38.	Orillac C., Thomas C., Dastagirzada Y., Hidalgo E.T., Golfinos J.G., Zagzag D., et al. Pilocytic astrocytoma and glioneronal tumor with histone H3 K27M mutation. Acta Neuropathol Commun 2016; 4 (1): 84.</mixed-citation><mixed-citation xml:lang="ru">Orillac C., Thomas C., Dastagirzada Y., Hidalgo E.T., Golfinos J.G., Zagzag D., et al. Pilocytic astrocytoma and glioneronal tumor with histone H3 K27M mutation. Acta Neuropathol Commun 2016; 4 (1): 84.</mixed-citation></citation-alternatives></ref><ref id="B39"><label>39.</label><citation-alternatives><mixed-citation xml:lang="en">39.	Hochart A., Escande F., Rocourt N., Grill J., Koubi-Pick V., Beaujot J., et al. Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma. Ann Clin Transl Neurol 2015; 2 (4): 439–43.</mixed-citation><mixed-citation xml:lang="ru">Hochart A., Escande F., Rocourt N., Grill J., Koubi-Pick V., Beaujot J., et al. Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma. Ann Clin Transl Neurol 2015; 2 (4): 439–43.</mixed-citation></citation-alternatives></ref><ref id="B40"><label>40.</label><citation-alternatives><mixed-citation xml:lang="en">40.	El Ahmadieh T.Y., Plitt A., Kafka B., Aoun S.G., Raisanen J.M., Orr B., et al. H3 K27M Mutations in Thalamic Pilocytic Astrocytomas with Anaplasia. World Neurosurg 2019; 124: 87–92.</mixed-citation><mixed-citation xml:lang="ru">El Ahmadieh T.Y., Plitt A., Kafka B., Aoun S.G., Raisanen J.M., Orr B., et al. H3 K27M Mutations in Thalamic Pilocytic Astrocytomas with Anaplasia. World Neurosurg 2019; 124: 87–92.</mixed-citation></citation-alternatives></ref><ref id="B41"><label>41.</label><citation-alternatives><mixed-citation xml:lang="en">41.	Morita S., Nitta M., Muragaki Y., Komori T., Masui K., Maruyama T., et al. Brainstem pilocytic astrocytoma with H3 K27M mutation: case report. J Neurosurg 2018; 129 (3): 593–7.</mixed-citation><mixed-citation xml:lang="ru">Morita S., Nitta M., Muragaki Y., Komori T., Masui K., Maruyama T., et al. Brainstem pilocytic astrocytoma with H3 K27M mutation: case report. J Neurosurg 2018; 129 (3): 593–7.</mixed-citation></citation-alternatives></ref><ref id="B42"><label>42.</label><citation-alternatives><mixed-citation xml:lang="en">42.	López G., Oberheim Bush N.A., Berger M.S., Perry A., Solomon D.A. Diffuse non-midline glioma with H3F3A K27M mutation: a prognostic and treatment dilemma. Acta Neuropathol Commun 2017; 5 (1): 38.</mixed-citation><mixed-citation xml:lang="ru">López G., Oberheim Bush N.A., Berger M.S., Perry A., Solomon D.A. Diffuse non-midline glioma with H3F3A K27M mutation: a prognostic and treatment dilemma. Acta Neuropathol Commun 2017; 5 (1): 38.</mixed-citation></citation-alternatives></ref><ref id="B43"><label>43.</label><citation-alternatives><mixed-citation xml:lang="en">43.	Yoshimoto K., Hatae R., Sangatsuda Y., Suzuki S.O., Hata N., Akagi Y., et al. Prevalence and clinicopathological features of H3.3 G34-mutant high-grade gliomas: a retrospective study of 411 consecutive glioma cases in a single institution. Brain Tumor Pathol 2017; 34 (3): 103–12.</mixed-citation><mixed-citation xml:lang="ru">Yoshimoto K., Hatae R., Sangatsuda Y., Suzuki S.O., Hata N., Akagi Y., et al. Prevalence and clinicopathological features of H3.3 G34-mutant high-grade gliomas: a retrospective study of 411 consecutive glioma cases in a single institution. Brain Tumor Pathol 2017; 34 (3): 103–12.</mixed-citation></citation-alternatives></ref><ref id="B44"><label>44.</label><citation-alternatives><mixed-citation xml:lang="en">44.	Gianno F., Antonelli M., Ferretti E., Massimino M., Arcella A., Giangaspero F. Pediatric high-grade glioma: A heterogeneous group of neoplasms with different molecular drivers. Glioma 2018; 1: 117–24.</mixed-citation><mixed-citation xml:lang="ru">Gianno F., Antonelli M., Ferretti E., Massimino M., Arcella A., Giangaspero F. Pediatric high-grade glioma: A heterogeneous group of neoplasms with different molecular drivers. Glioma 2018; 1: 117–24.</mixed-citation></citation-alternatives></ref><ref id="B45"><label>45.</label><citation-alternatives><mixed-citation xml:lang="en">45.	Korshunov A., Capper D., Reuss D., Schrimpf D., Ryzhova M., Hovestadt V., et al. Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologicentity. Acta Neuropathol 2016; 131 (1): 137–46.</mixed-citation><mixed-citation xml:lang="ru">Korshunov A., Capper D., Reuss D., Schrimpf D., Ryzhova M., Hovestadt V., et al. Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologicentity. Acta Neuropathol 2016; 131 (1): 137–46.</mixed-citation></citation-alternatives></ref><ref id="B46"><label>46.</label><citation-alternatives><mixed-citation xml:lang="en">46.	Maus A., Peters G.J. Glutamate and alpha-ketoglutarate: key players in glioma metabolism. Amino Acids 2017; 49 (1): 21–32.</mixed-citation><mixed-citation xml:lang="ru">Maus A., Peters G.J. Glutamate and alpha-ketoglutarate: key players in glioma metabolism. Amino Acids 2017; 49 (1): 21–32.</mixed-citation></citation-alternatives></ref><ref id="B47"><label>47.</label><citation-alternatives><mixed-citation xml:lang="en">47.	Turcan S., Rohle D., Goenka A., Walsh L.A., Fang F., Yilmaz E., et al. IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. Nature 2012 Feb 15; 483 (7390): 479–83.</mixed-citation><mixed-citation xml:lang="ru">Turcan S., Rohle D., Goenka A., Walsh L.A., Fang F., Yilmaz E., et al. IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. Nature 2012 Feb 15; 483 (7390): 479–83.</mixed-citation></citation-alternatives></ref><ref id="B48"><label>48.</label><citation-alternatives><mixed-citation xml:lang="en">48.	Pollack I.F., Hamilton R.L., Sobol R.W., Nikiforova M.N., Lyons-Weiler M.A., Laframboise W.A., et al. IDH1 mutations are common in malignant gliomas arising in adolescents: A report from the Children's Oncology Group. Child's Nervous System 2011; 27 (1):87–94.</mixed-citation><mixed-citation xml:lang="ru">Pollack I.F., Hamilton R.L., Sobol R.W., Nikiforova M.N., Lyons-Weiler M.A., Laframboise W.A., et al. IDH1 mutations are common in malignant gliomas arising in adolescents: A report from the Children's Oncology Group. Child's Nervous System 2011; 27 (1):87–94.</mixed-citation></citation-alternatives></ref><ref id="B49"><label>49.</label><citation-alternatives><mixed-citation xml:lang="en">49.	U.S. Food and Drug Administration. Режим доступа [электронный ресурс]: https://www.fda.gov/drugs/fda-aрproves-larotrectinib-solid-tumors-ntrk-genefusions-0 (дата обращения 04.07.2019).</mixed-citation><mixed-citation xml:lang="ru">U.S. Food and Drug Administration. Режим доступа [электронный ресурс]: https://www.fda.gov/drugs/fda-aрproves-larotrectinib-solid-tumors-ntrk-genefusions-0 (дата обращения 04.07.2019).</mixed-citation></citation-alternatives></ref><ref id="B50"><label>50.</label><citation-alternatives><mixed-citation xml:lang="en">50. Laetsch T.W., DuBois S.G., Mascarenhas L., Turpin B., Federman N., Albert C.M., et al. Larotrectinib for paediatric solid tumours harbouring NTRK gene fusions: phase 1 results from a multicentre, open-label, phase 1/2 study. Lancet Oncol 2018 May; 19 (5): 705–14.</mixed-citation><mixed-citation xml:lang="ru">Laetsch T.W., DuBois S.G., Mascarenhas L., Turpin B., Federman N., Albert C.M., et al. Larotrectinib for paediatric solid tumours harbouring NTRK gene fusions: phase 1 results from a multicentre, open-label, phase 1/2 study. Lancet Oncol 2018 May; 19 (5): 705–14.</mixed-citation></citation-alternatives></ref></ref-list></back></article>
