Online ISSN: 3007-0244,
Print ISSN:  2410-4280
ГЕНЕТИЧЕСКИЕ ВАРИАНТЫ МЕДУЛЛОБЛАСТОМЫ У ДЕТЕЙ И ПОДХОДЫ К ЕЕ ЛЕЧЕНИЮ. ОБЗОР ЛИТЕРАТУРЫ.
Актуальность: Медуллобластома – одна из наиболее распространенных злокачественных новообразований ЦНС в детском возрасте. Генетические особенности заболевания могут играть важную роль в определении подходов к лечению, но до настоящего времени этот аспект изучен недостаточно. Цель: Общая характеристика современных сведений о генетических вариантах медуллобластомы в контексте возможности целенаправленного формирования траектории лечения. Стратегия поиска: Проведен поиск научных публикаций в поисковых системах PubMed, eLibrary.ru, Google Scholar. Проанализирован ряд оригинальных публикаций и обзоров по направлению исследования за 2012-2022 гг, но также были включены публикации ранее 2012 года, так как они содержат информацию, касательно данной патологии в детском возрасте и классические базовые подходы в терапии и стратификации болезни. Отбор публикаций осуществлялся в соответствии с целью обзора – максимально полной и компактной характеристики генетики медуллобластомы в соответствии с современным лечением. Результаты и выводы: В целом в настоящее время имеются существенные основания для разработки дифференцированных подходов к лечению МБ у детей, основанных на различных видах побочных действий на лучевую и химиотерапию. Однако даже в мировой медицине практическое использование таких подходов ограничено. В настоящее время четко определены 4 основных генетических типа медуллобластомы, имеющие множество подтипов, в связи с чем выдвинуты некоторые гипотезы о диэскалации терапии. Данные о влиянии генетических типов на лечение ограничиваются единичными исследованиями, и окончательных утвержденных заключений, согласно выдвинутым гипотезам в рекомендательных материалах не отражены.
Райгуль Р. Нусупова1, https://orcid.org/0000-0002-8039-4446 Лаура А. Пак2, https://orcid.org/0000-0002-5249-3359 Мейрам С. Мулдахметов1, https://orcid.org/0000-0002-8389-2061 Бакыткали А. Ибраимов3 1 НАО «Медицинский университет Астана», г. Нур-Султан, Республика Казахстан; 2 НАО «Медицинский университет Семей», г. Семей, Республика Казахстан; 3 Корпоративный Фонд «University Medical Center», г. Нур-Султан, Республика Казахстан.
1. CalvoTardón M., Allard M., Dutoit V., Dietrich P.-Y., Walker P.R. Peptides as cancer vaccines // Curr. Opin. Pharmacol. 2019. 47, 20–26. 2. Canning P., Cooper C.D., Krojer T., Murray J.W., Pike A.C., Chaikuad A. et al. Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases // J. Biol. Chem. 2013. 288:7803–7814. 3. Cavalli F.M.G., Remke M., Rampasek L., Peacock J., Shih D.JH., Luu B. et al. Intertumoral Heterogeneity within Medulloblastoma Subgroups // Cancer Cell. 2017. 31:737–754 e6. 4. Ceccarelli M., Barthel F.P., Malta T.M., Sabedot T.S., Salama S.R., Murray B.A. et al. Molecular profiling reveals biologically discrete subsets and pathways of progression in diffuse glioma // Cell. 2016. 164:550–563. 5. Chang C.H., Housepian E.M., Herbert C. An operative staging system and a megavoltage radiotherapeutic technic for cerebellar medulloblastomas // Radiology. 1969. 93:1351–1359. 6. Chin A.L., Moding E.J., Donaldson S.S. et al. Survival impact of postoperative radiotherapy timing in pediatric and adolescent medulloblastoma // Neuro Oncol. 2018. 20, 1133–1141. 7. Cho Y.J., Tsherniak A., Tamayo P., Santagata S., Ligon A., Greulich H. et al. Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome // J. Clin. Oncol. 2011. 29:1424–1430. 8. Clifford S.C., Lannering B., Schwalbe E.C., Hicks D., O’Toole K., Nicholson S.L. et al. Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial // Oncotarget. 2015. 6:38827–39. 9. Clifford S.C., Lusher M.E., Lindsey J.C., Langdon J.A., Gilbertson R.J., Straughton D. et al. Wnt/Wingless pathway activation and chromosome 6 loss characterize a distinct molecular sub-group of medulloblastomas associated with a favorable prognosis // Cell Cycle. 2006. 5:2666–70. 10. Cwiek P., Leni Z., Salm F., Dimitrova V., Styp-Rekowska B., Chiriano G. et al. RNA interference screening identifies a novel role for PCTK1/CDK16 in medulloblastoma with c-Myc amplification // Oncotarget. 2015. 6:116–129. 11. Davis C.A., Haberland M., Arnold M.A., Sutherland L.B., Mc Donald O.G., Richardson J.A. et al. PRISM/ PRDM6, a transcriptional repressor that promotes the proliferative gene program in smooth muscle cells // Mol. Cell Biol. 2006. 26:2626–2636. 12. de Haas T., Oussoren E., Grajkowska W., Perek-Polnik M., Popovic M., Zadravec-Z. et al. Letal OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas // J. Neuropathol. 2006. Exp. Neurol. 65:176–186. 13. Deinlein F. et al. Treatment of early childhood medulloblastoma by postoperative chemotherapy alone // N. Engl. J. Med. 2005, 352, 978–986. 14. Donehower L.A., Soussi T., Korkut A., Liu Y., Schultz A., Cardenas M. et al. Integrated analysis of TP53 gene and pathway alterations in the cancer genome // atlas Cell Rep. 2019. 28:1370–1384 e5. 15. Dressler E.V., Dolecek T.A., Liu M., Villano J.L. Demographics, patterns of care, and survival in pediatricmedulloblastom // J. Neuro-Oncol. 2017, 132, 497–506. 16. Duman-Scheel M., Weng L., Xin S., Du W. Hedgehog regulates cell growth and proliferation by inducing Cyclin D and Cyclin E // Nature. 2002. 417:299–304. 17. Eaton B.R., Esiashvili N., Kim S. et al. Clinical Outcomes Among Children With Standard-Risk Medulloblastoma Treated With Proton and Photon Radiation Therapy: A Comparison of Disease Control and Overall Survival // Int. J. Radiat. Oncol. Biol. Phys. 2016. 94,133–138. 18. Ellison D.W, Dalton J, Kocak M, Nicholson SL, Fraga C, Neale G. et al. Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups // Acta Neuropathol. 2011. 121:381–396. 19. Ellison D.W., Onilude O.E., Lindsey J.C., Lusher M.E., Weston C.L., Taylor R.E. et al. beta-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children’s Cancer Study Group Brain Tumour Committee // J. Clin. Oncol.2005. 23:7951–7957. 20. Fink A.J., Englund C., Daza R.A., Pham D., Lau C., Nivison M. et al. Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip // J. Neurosci. 2006. 26:3066–3076. 21. Freyer D.R., Chen L., Krailo M.D. et al. Effects of sodium thiosulfate versus observation on development of cisplatin-induced hearing loss in children with cancer (ACCL0431): A multicentre, randomised, controlled, open-label, phase 3 trial // Lancet Oncol. 2017. 18,63–74. 22. Friedman G.K., Johnston J.M., Bag A.K. et al. Oncolytic HSV-1 G207 Immunovirotherapy for Pediatric High-Grade Gliomas // N. Engl. J. Med. 2021, 384, 1613–1622. 23. Gajjar A., Chintagumpala M., Ashley D. et al. Risk-adapted craniospinal radiotherapy followed by high-dose chemotherapy and stem-cell rescue in children with newly diagnosed medulloblastoma (St Jude Medulloblastoma-96): long-term results from a prospective, multicentretrial // Lancet Oncol.2006. 7:813–820. 24. Gajjar A., Robinson G.W., Smith K.S. et al. Outcomes by Clinical and Molecular Features in Children With Medulloblastoma Treated With Risk-Adapted Therapy: Results of an International Phase III Trial (SJMB03) // J. Clin. Oncol. 2021. 39, 822–835. 25. Gandola L., Massimino M., Cefalo G., Solero C., Spreafico F., Pecori E. et al. Hyperfractionated accelerated radiotherapy in the Milan strategy for metastatic medulloblastoma // J. Clin. Oncol.2009. 27:566–571. 26. Gibson P., Tong Y., Robinson G., Thompson M.C., Currle D.S., Eden C. et al. Subtypes of medulloblastoma have distinct developmental origins // Nature. 2010. 468:1095–1099. 27. Goschzik T., Schwalbe E.C., Hicks D., Smith A., Zur Muehlen A., Figarella-Branger D. et al. Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHHmedulloblastoma: a retrospective, molecular analysis of the HIT-SIOPPNET 4 trial // Lancet Oncol. 2018. 19:1602–1616. 28. Grange D.K., Clericuzio C.L., Bayliss S.J., Berk D.R., Heideman R.L., Higginson J.K. et al. Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest anetiologic role of the sonic hedgehog-patched-GLI pathway Am // J. Med. Genet. A146A. 2008:2589–2597. 29. Grill J., Sainte-Rose C., Jouvet A. et al. Treatment of medulloblastoma with postoperative chemotherapy alone: An SFOP prospective trial in young children // Lancet Oncol. 2005. 6, 573–580. 30. Grosshans, D.R. Proton therapy for paediatric medulloblastoma // Lancet Oncol. 2016. 17, 258–259. 31. Hovestadt V., Smith K.S., Bihannic L., Filbin M.G., Shaw M.L., Baumgartner A. et al. Resolving medulloblastoma cellular architecture by single-cell genomics // Nature. 2019. 572:74–79. 32. Hovestadt V., Smith K.S., Bihannic L., Filbin M.G., Shaw M.L., Baumgartner A. et al. Resolving medulloblastoma cellular architecture by single-cell genomics // Nature. 2019. 572:74–79. 33. Huether R., Dong L., Chen X., Wu G., Parker M., Wei L. et al. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes // Nat. Commun. 2014. 5:3630. 34. Jahanafrooz Z., Baradaran B., Mosafer J. et al. Comparison of DNA and mRNA vaccines against cancer // Drug Discov. Today 2020. 25,552–560. 35. Jakacki R.I., Burger P.C., Zhou T. et al. Outcome of children with metastatic medulloblastoma treated with carboplatin during craniospinal radiotherapy: a Children’s Oncology Group Phase I/II study // J. Clin. Oncol.2012. 30:2648–2653. 36. Jones D.T., Jager N., Kool M., Zichner T., Hutter B., Sultan M. et al. Dissecting the genomic complexity underlying medulloblastoma // Nature. 2012. 488:100–105. 37. Kadoch C., Hargreaves D.C., Hodges C., Elias L., Ho L., Ranish J. et al. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy // Nat. Genet. 2013. 45:592–601. 38. Kahalley L.S., Peterson R., Ris M.D. et al. Superior Intellectual Outcomes after Proton Radiotherapy Compared With Photon Radiotherapy for Pediatric Medulloblastoma // J. Clin. Oncol. 2020. 38,454–461. 39. Klein O., Boussard, N., Guerbouz R. et al. Surgical approach to the posterior fossa in children, including anesthetic considerations and complications: The prone and the sitting position // Technical note. Neurochirurgie 2021, 67, 46–51. 40. Knight K.R.G., Kraemer D.F., Neuwelt E.A. Ototoxicity in Children Receiving Platinum Chemotherapy: Underestimating a Commonly Occurring Toxicity That May Influence Academic and Social Development // J. Clin. Oncol. 2005. 23, 8588–8596. 41. Kool M., Jones D.T., Jager N., Northcott P.A., Pugh T.J., Hovestadt V. et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition // Cancer Cell. 2014. 25:393–405. 42. Kool M., Korshunov A., Remke M., Jones D.T., Schlanstein M., Northcott P.A. et al. Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas // Acta Neuropathol. 2012. 123:473–484. 43. Kool M., Koster J., Bunt J., Hasselt N.E., Lakeman A., van Sluis P et al Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinico-pathological features // PLoSONE 3.2008.e3088. 44. Korshunov A., Sahm F., Zheludkova O., Golanov A., Stichel D., Schrimpf D. et al. DNA methylation profiling is a method of choice for molecular verification of pediatric WNT-activated medulloblastomas // Neuro Oncol. 2019. 21:214–221. 45. Kortmann R.-D., Kühl J., Timmermann B. et al. Postoperative neoadjuvant chemotherapy before radiotherapy as compared to immediate radiotherapy followed by maintenance chemotherapy in the treatment of medulloblastoma in childhood: Results of the german prospective randomized trial hit’91 // Int. J. Radiat. Oncol. Biol. Phys. 2000, 46, 269–279. 46. Landier W., Knight K., Wong F.L. et al. Ototoxicity in children with high-risk neuroblastoma: Prevalence, risk factors, and concordance of grading scales–a report from the Children’s Oncology Group // J. Clin. Oncol. 2014. 32, 527–534. 47. Leary S.E.S., Packer R.J., Li Y. et al. Efficacy of Carboplatin and Isotretinoin in Children with High-risk Medulloblastoma: A Randomized Clinical Trial From the Children’s Oncology Group. JAMA // Oncol. 2021. 7, 1313–1321. 48. Leung J.W., Makharashvili N., Agarwal P., Chiu L.Y., Pourpre R., Cammarata M.B. et al. ZMYM3 regulates BRCA1 localization at damaged chromatin to promote DNA repair // Genes Dev. 2017. 31:260–274. 49. Lin C.Y., Erkek S., Tong Y., Yin L., Federation A.J., Zapatka M. et al. Active medulloblastoma enhancers reveal subgroup-specific cellular origins // Nature. 2016. 530:57–62. 50. Lindsay H., Jubran R.F., Wang L., Kipp B.R., May W.A. Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2 // J. Pediatr. 2013. 163:601–603. 51. Ling C., Yang W., Sun H., Ge M., Ji Y., Han S. et al. Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome // Clin. Case Rep. 2018.6:1448–1451. 52. 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. 131:803–820. 53. Martin A.M., Raabe E., Eberhart C., Cohen K.J. Management of Pediatric and Adult Patients with Medulloblastoma // Curr. Treat. Options Oncol. 2014, 15, 581–594. 54. Mendrzyk F., Radlwimmer B., Joos S., Kokocinski F., Benner A., Stange D.E. et al. Genomic and protein expression profiling identifies CDK6 as novel independent prognostic marker in medulloblastoma // J. Clin. Oncol. 2005. 23:8853–8862. 55. Metcalfe C., Alicke B., Crow A., Lamoureux M., Dijkgraaf G.J., Peale F. et al. PTEN loss mitigates the response of medulloblastoma to Hedgehog pathway inhibition // Cancer Res. 2013. 73:7034–7042. 56. Michalski J.M., Janss A.J., Vezina L.G. et al. Children’s Oncology Group Phase III Trial of Reduced-Dose and Reduced-Volume Radiotherapy With Chemotherapy for Newly Diagnosed Average-Risk Medulloblastoma // J. Clin. Oncol. 2021. 39, 2685–2697. 57. Millis S.Z., Ikeda S., Reddy S., Gatalica Z., Kurzrock R. Landscape of phosphatidylinositol-3-kinase pathway alterations across 19784 diverse solid tumors // JAMA Oncol. 2016. 2:1565–1573. 58. Muzumdar D., Deshpande A., Kumar R. et al. Medulloblastoma in childhood King Edward Memorial hospital surgical experience and review: Comparative analysis of the case series of 365 patients // J. Pediatr. Neurosci. 2011, 6, S78–S85. 59. Mynarek M., von Hoff K., Pietsch T. et al. Non metastatic Medulloblastoma of Early Childhood: Results from the Prospective Clinical Trial HIT-2000 and An Extended Validation Cohort // J. Clin. Oncol. 2020. 38, 2028–2040. 60. Nguyen A., Bougeard G., Koob M., Chenard M.P., Schneider A., Maugard C. et al. MSI detection and its pitfalls in CMMRD syndrome in a family with a bi-allelic MLH1 mutation // Fam. Cancer. 2016. 15:571–577. 61. Northcott P.A., Buchhalter I., Morrissy A.S., Hovestadt V., Weischenfeldt J., Ehrenberger T. et al. The whole-genome landscape of medulloblastoma subtypes // Nature. 2017. 547:311–317. 62. Northcott P.A., Hielscher T., Dubuc A., Mack S., Shih D., Remke M .et al. Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct // Acta Neuropathol. 2011. 122:231–240. 63. Northcott P.A., Korshunov A., Witt H., Hielscher T., Eberhart C.G., Mack S. et al. Medulloblastoma comprises four distinct molecular variants // J. Clin. Oncol. 2011. 29:1408–1414. 64. Northcott P.A., Lee C., Zichner T., Stutz A.M., Erkek S., Kawauchi D. et al. Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma // Nature. 2014. 511:428–434. 65. Northcott P.A., Shih D.J., Peacock J., Garzia L., Morrissy A.S., Zichner T. et al. Subgroup-specific structural variation across 1,000 medulloblastoma genomes // Nature. 2012. 488:49–56. 66. Noushmehr H., Weisenberger D.J., Diefes K., Phillips H.S., Pujara K., Berman B.P. et al. Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma // Cancer Cell. 2010. 17:510–522. 67. Oliver T.G., Grasfeder L.L., Carroll A.L., Kaiser C., Gillingham C.L., Lin S.M. et al. Transcriptional profiling of the Sonic hedgehog response: a critical role for N-myc in proliferation of neuronal precursors // Proc. Natl. Acad. Sci USA. 2003. 100:7331–7336. 68. Orgel E., Jain S., Ji L. et al. Hearing loss among survivors of childhood brain tumors treated with an irradiation-sparing approach. Pediatr // Blood Cancer 2012. 58,953–958. 69. Ostrom Q.T., Gittleman H., Truitt G., Boscia A., Kruchko C., Barnholtz-Sloan J.S. CBTRUS. Statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2011–2015 // Neuro Oncol. 2018. 20(Suppl. 4):iv1–iv86. 70. Oyharcabal-Bourden V., Kalifa C., Gentet J.C., Frappaz D., Edan C., Chastagner P. et al. Standard-risk medulloblastoma treated by adjuvant chemotherapy followed by reduced-dose craniospinal radiationtherapy: a French Society of Pediatric Oncology Study // J. Clin. Oncol. 2005. 23: 4726–4734. 71. Packer R.J., Gajjar A., Vezina G. et al. Phase III study of craniospinal radiation therapy followed by adjuvant chemotherapy for newly diagnosed average risk medulloblastoma // J. Clin. Oncol. 2006. 24, 4202–4208. 72. Packer R.J., Gajjar A., Vezina G. et al. Phase III study ofcraniospinal radiation therapy followed by adjuvant chemotherapy for newly diagnosed average-risk medulloblastoma // J. Clin. Oncol. 2006. 24:4202–4208. 73. Parsons D.W., Li M., Zhang X., Jones S., Leary R.J., Lin J.C. et al. The genetic landscape of the childhood cancer medulloblastoma // Science. 2011. 331:435–439. 74. Partanen M., Anghelescu D.L., Hall L. et al. Longitudinal associations between exposure to anesthesia and neurocognitive functioning in pediatricmedulloblastoma. // Eur. J. Cancer 2021, 148, 103–111. 75. Perng P., Lim M. Immunosuppressive Mechanisms of Malignant Gliomas: Parallels at Non-CNS Sites. Front // Oncol. 2015. 5, 153. 76. Pomeroy S.L., Tamayo P., Gaasenbeek M., Sturla L.M., Angelo M., McLaughlin M.E. et al. Prediction of central nervous system embryonal tumour outcome based on gene expression // Nature. 2002. 415:436–442. 77. Prost G., Braun S., Hertwig F., Winkler M., Jagemann L., Nolbrant S. et al. The putative tumor suppressor gene EphA7 is a novel BMI-1 target // Oncotarget. 2016. 7:58203–58217. 78. Pugh T.J., Weeraratne S.D., Archer T.C., Pomeranz Krummel D.A., Auclair D., Bochicchio J. et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations // Nature. 2012. 488:106–110. 79. Rabalski A.J., Gyenis L., Litchfield D.W. Molecular pathways: Emergence of Protein Kinase CK2 (CSNK2) as a potential target to inhibit survival and DNA damage response and repair pathways in cancer cells // Clin. Cancer Res. 2016. 22:2840–2847. 80. Raleigh D.R., Choksi P.K., Krup A.L., Mayer W., Santos N., Reiter J.F. Hedgehog signalling drives medulloblastoma growth via CDK6 // J. Clin. Invest. 2018. 128:120–124. 81. Ramaswamy V., Remke M., Bouffet E. et al. Risk stratification of childhood medulloblastoma in the molecular era: The current consensus // Acta Neuropathol. 2016, 131, 821–831. 82. Ramaswamy V., Remke M., Bouffet E., Faria C.C., Perreault S., Cho Y.J. et al. Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis // Lancet Oncol. 2013. 14:1200–1207. 83. Rampias T., Karagiannis D., Avgeris M., Polyzos A., Kokkalis A., Kanaki Z. et al. The lysine-specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer // EMBOR ep. 2019. 20:e46821. 84. Rausch T., Jones D.T., Zapatka M., Stutz A.M., Zichner T., Weischenfeldt J. et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations // Cell. 2012. 148:59–71. 85. Remke M., Hielscher T., Northcott P.A., Witt H., Ryzhova M., Wittmann A. Adult medulloblastoma comprises three major molecular variants // J. Clin. Oncol. 2011. 29:2717–2723. 86. Robinson G., Parker M., Kranenburg T.A., Lu C., Chen X., Ding L. et al. Novel mutations target distinct subgroups of medulloblastoma // Nature. 2012. 488:43–48. 87. Robinson G.W., Kaste S.C., Chemaitilly W., Bowers D.C., Laughton S., Smith A. et al. Irreversible growth plate fusions in children with medulloblastoma treated with a targeted hedgehog pathway inhibito // Oncotarget. 2017. 8:69295–69302. 88. Robinson G.W., Orr B.A., Wu G., Gururangan S., Lin T., Qaddoumi I. et al. Vismodegib exerts targeted efficacy against recurrent sonic hedgehog-subgroup medulloblastoma: results from phase II pediatric brain tumor consortium studies PBTC-025B and PBTC-032 // J. Clin. Oncol. 2015. 33:2646–2654. 89. Robinson G.W., Rudneva V.A., Buchhalter I., Billups C.A., Waszak S.M., Smith K.S. et al. Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial // Lancet Oncol. 2018. 19:768–784. 90. Satow R., Kurisaki A., Chan T.C., Hamazaki T.S., Asashima M. Dullard promotes degradation and dephosphorylation of BMP receptors and is required for neural induction // Dev. Cell. 2006. 11:763–774. 91. Schuller U., Heine V.M., Mao J., Kho A.T., Dillon A.K., Han Y.G. et al. Acquisition of granule neuron precursor identity is a critical determinant of progenitor cell competence to form Shh-induced medulloblastoma // Cancer Cell. 2008. 14:123–134. 92. Schwalbe E.C., Lindsey J.C., Nakjang S., Crosier S., Smith A.J., Hicks D .et al. Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study // Lancet Oncol. 2017. 18:958–971. 93. Schwalbe E.C., Lindsey J.C., Nakjang S., Crosier S., Smith A.J., Hicks D. et al. Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study // Lancet Oncol. 2016, 2017. 18:958–971. 94. Sharma T., Schwalbe E.C., Williamson D., Sill M., Hovestadt V., Mynarek M. et al. Second-generation molecular subgrouping of medulloblastoma: an international meta_analysis of Group 3 and Group 4 subtypes // Acta. Neuropathol. 2019. 138:309–326. 95. Shi X., Wang Q., Gu J., Xuan Z., Wu J.I. SMARCA4/ Brg1 coordinates genetic and epigenetic networks underlying Shh-type medulloblastoma development // Oncogene. 2016. 35:5746–5758. 96. Shih D.J., Northcott P.A., Remke M., Korshunov A., Ramaswamy V., Kool M. et al. Cytogenetic prognostication within medulloblastoma subgroups // J. Clin. Oncol. 2014. 32:886–896. 97. Smith M.J., Beetz C., Williams S.G., Bhaskar S.S., O’Sullivan J., Anderson B. et al. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations // J. Clin. Oncol. 2014. 32:4155–4161. 98. Sturm D., Orr B.A., Toprak U.H., Hovestadt V., Jones D.T.W., Capper D. et al. New brain tumor entities emerge from molecular classification of CNS-PNETs // Cell. 2016. 164:1060–1072. 99. Tabori U., Sung L., Hukin J. et al. Medulloblastoma in the second decade of life: A specific group with respect to toxicity and management: A Canadian Pediatric Brain Tumor Consortium Study // Cancer 2005, 103, 1874–1880. 100. Taeubner J., Wimmer K., Muleris M., Lascols O., Colas C., Fauth C. et al. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6 // Eur. J. Hum. Genet. 2018. 26:440–444.
Количество просмотров: 273

Ключевые слова:

Категория статей: Обзор литературы

Библиографическая ссылка

Нусупова Р.Р., Пак Л.А., Мулдахметов М.С., Ибраимов Б.А. Генетические варианты медуллобластомы у детей и подходы к ее лечению. Обзор литературы // Наука и Здравоохранение. 2022. 5(Т.24). С. 166-178. doi 10.34689/SH.2022.24.5.021

Авторизируйтесь для отправки комментариев