MEDULLOBLASTOMALARNING PATOGENEZI, DIAGNOSTIKASI VA TASNIFLANISHIGA OID ZAMONAVIY QARASHLAR (Adabiyotlar tahlili)
##article.subject##:
klassifikatsiya, diagnoz, gistologiya, medulloblastoma, SHH, WNT##article.abstract##
Medulloblastoma (MB) markaziy asab tizimida eng keng tarqalgan embrional o`sma bo`lib, umumiy davolanish darajasi 70% atrofida bo'lsa-da, kasallik bilan og'rigan bemorlarda salbiy natijalar kuzatilishi va kasallanishning davomiyligi uzoq muddat davom etmoqda. MB diagnostikasi, xavfni va klinikasini baholash eng tez sur'atlar bilan rivojlanayotgan sohalar qatoriga kiradi. Ushbu yutuqlar asosan diagnostika va xavflarni aniqlashtirishdagi texnologik imkoniyatlar bilan bog'liq bo'lib, ular endi gistomorfologik va molekulyar tasnifni birlashtirishga imkon bermoqda. MB kliniko-patologik xavfini tabaqalashtirish uchun morfologik va genomik ma'lumotlarni qanday samarali integratsiya qilish va isbotlangan tibbiyot uchun innovatsion klinik sinovlarni loyihalashda yordam berish bo'yicha boshqa turdagi o'smalar uchun prototip bo'lib xizmat qiladi. Ushbu sharhda zamonaviy neyrologik fanlar laboratoriyalarida MB ning hozirgi kundagi diagnostikasi va tasniflanishi bo’yicha erishilgan yutuqlar tahlil qilingan.
Библиографические ссылки
Andrey K, Felix S, Olga Z, Andrey G, Damian S, Daniel S et al (2019) DNA methylation profiling is a method of choice for molecular verification of pediatric WNT-activated medulloblastomas. Neuro-Oncology 21:214–221.
Andrey K, Lukas C, Northcott PA, Tanvi S, Marina R, Jones DTW et al (2017) DNA-methylation profiling discloses significant advantages over NanoString method for molecular classification of medulloblastoma. Acta Neuropathol 134:965–967.
Arceci RJ (2010) Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification. Yearb Oncol 28:203–204.
Bailey P (1925) Medulloblastoma cerebelli. Arch Neurol Psychiatry 14:192–224.
Bailey P, Cushing H (1926) A Classification of the Tumors of the Glioma Group on a Histogenetic Basis With a Correlated Study of Prognosis. Lippincott: Philadelphia.
Bailey CC, Gnekow A, Wellek S, Jones M, Round C, Brown J et al (1995) Prospective randomised trial of chemotherapy given before radiotherapy in childhood medulloblastoma. International society of paediatric oncology (SIOP) and the (German) society of paediatric oncology (GPO): SIOP II. Med Pediatr Oncol 25:166–178.
Brown HG, Kepner JL, Perlman EJ, Friedman HS, Strother DR, Duffner PK et al (2000) “Large cell/anaplastic” medulloblastomas: a pediatric oncology group study. J Neuropathol Exp Neurol 59:857–865.
Capper D, Jones DT, Sill M, Hovestadt V, Schrimpf D, Sturm D et al (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474.
Cavalli FM, Remke M, Rampasek L, Peacock J, Shih DJ, Luu B et al (2017) Intertumoral heterogeneity within medulloblastoma subgroups. Cancer Cell 31:737–754.e6.
Cho YJ, Tsherniak A, Tamayo P, Santagata S, Ligon A, Greulich H et al (2011) Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol 29:1424–1430.
Clifford SC, Lusher ME, Lindsey JC, Langdon JA, Gilbertson RJ, Straughton D, Ellison DW (2006) Wnt/ Wingless pathway activation and chromosome 6 loss characterize a distinct molecular sub-group of medulloblastomas associated with a favorable prognosis. Cell Cycle 5:2666–2670.
Eberhart CG, Kepner JL, Goldthwaite PT, Kun LE, Duffner PK, Friedman HS et al (2002) Histopathologic grading of medulloblastomas. Cancer 94:552–560.
Ellison DW, Dalton J, Kocak M, Nicholson SL, Fraga C, Neale G et al (2011) Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol 121:381–396.
Ellison DW, Kocak M, Dalton J, Megahed H, Lusher ME, Ryan SL et al (2011) Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables. J Clin Oncol 29:1400–1407.
Farwell JR, Dohrmann GJ, Flannery JT (1984) Medulloblastoma in childhood: an epidemiological study. J Neurosurg 61:657–664.
Ferguson S, Lesniak MS (2005) Percival Bailey and the classification of brain tumors. Neurosurg Focus 18:1–6.
Fernandez LA, Northcott PA, Dalton J, Fraga C, Ellison D, Angers S et al (2009) YAP1 is amplified and upregulated in hedgehog-associated medulloblastomas and mediates Sonic hedgehog-driven neural precursor proliferation. Genes Dev 23:2729–2741.
Geiss GK, Bumgarner RE, Birditt B, Dahl T, Dowidar N, Dunaway Det al (2008) Direct multiplexed measurement of gene expression with color-coded probe pairs. Nat Biotechnol 26:317–325.
Giangaspero F, Perilongo G, Fondelli MP, Brisigotti M, Carollo C, Burnelli R et al (1999) Medulloblastoma with extensive nodularity: a variant with favorable prognosis. J Neurosurg 91:971–977.
Giangaspero F, Rigobello L, Badiali M, Loda M, Andreini L, Basso G et al (1992) Large-cell medulloblastomas. Am J Surg Pathol 16:687–693.
Giangaspero F, Wellek S, Masuoka J, Gessi M, Kleihues P, Ohgaki H (2006) Stratification of medulloblastoma on the basis of histopathological grading. Acta Neuropathol 112:5–12.
Gibson P, Tong Y, Robinson G, Thompson MC, Currle DS, Eden C et al (2010) Subtypes of medulloblastoma have distinct developmental origins. Nature 468:1095–1099.
Gilbertson Richard J, Ellison David W (2008) The origins of medulloblastoma subtypes. Annu Rev Pathol 3:341–365.
Goschzik T, Schwalbe EC, Hicks D, Smith A, zur Muehlen A, Figarella-Branger D et al (2018) Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial. Lancet Oncol 19:1602–1616.
Helton KJ, Fouladi M, Boop FA, Perry A, Dalton J, Kun L, Fuller C (2004) Medullomyoblastoma: a radiographic and clinicopathologic analysis of six cases and review of the literature. Cancer 101:1445–1454.
Hovestadt V, Remke M, Kool M, Pietsch T, Northcott PA, Fischer R et al (2013) Robust molecular subgrouping and copy-number profiling of medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays. Acta Neuropathol 125:913–916.
Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M et al (2012) Dissecting the genomic complexity underlying medulloblastoma. Nature 488:100–105.
King AA, Seidel K, Di C, Leisenring WM, Perkins SM, Krull KR et al (2017) Long-term neurologic health and psychosocial function of adult survivors of childhood medulloblastoma/PNET: a report from the Childhood Cancer Survivor Study. Neuro Oncol 19:689–698.
Kool M, Jones DT, Jäger N, Northcott PA, Pugh TJ, Hovestadt V et al (2014) Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25:393–405.
Kool M, Korshunov A, Remke M, Jones DTW, Schlanstein M, Northcott PA et al (2012) 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 123:473–484.
Kool M, Koster J, Bunt J, Hasselt NE, Lakeman A, van Sluis P et al (2008) Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features. PLoS ONE 3:e3088.
Korshunov A, Ryzhova M, Jones DTW, Northcott PA, van Sluis P, Volckmann R et al (2012) LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR). Acta Neuropathol 124:875–881.
Leonard JR, Cai DX, Rivet DJ, Kaufman BA, Park TS, Levy BK, Perry A (2001) Large cell/anaplastic medulloblastomas and medullomyoblastomas: clinicopathological and genetic features. J Neurosurg 95:82–88.
Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A et al (2007) The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 114:97–109.
Louis DN, Perry A, Burger P, Ellison DW, Reifenberger G, von Deimling A et al (2014) International Society of Neuropathology-Haarlem consensus guidelines for nervous system tumor classification and grading. Brain Pathol 24:429–435.
Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK et al (2016) The 2016 World Health Organization classification of tumors of the central nervous system: a summary. Acta Neuropathol 131:803–820.
McManamy CS, Lamont JM, Taylor RE, Cole M, Pearson AD J, Clifford SC, Ellison DW (2003) Morphophenotypic variation predicts clinical behavior in childhood nondesmoplastic medulloblastomas. J Neuropathol Exp Neurol 62:627–632.
McManamy CS, Pears J, Weston CL, Hanzely Z, Ironside JW, Taylor RE et al (2007) Nodule formation and desmoplasia in medulloblastomas—defining the nodular/ desmoplastic variant and its biological behavior. Brain Pathol 17:151–164.
Merchant TE, Pollack IF, Loeffler JS (2010) Brain tumors across the age spectrum: biology, therapy, and late effects. Semin Radiat Oncol 20:58–66.
Moran S, Arribas C, Esteller M (2016) Validation of a DNA methylation microarray for 850,000 CpG sites of the human genome enriched in enhancer sequences. Epigenomics 8:389–399.
Mulhern RK, Palmer SL, Merchant TE, Wallace D, Kocak M, Brouwers P et al (2005) Neurocognitive consequences of risk-adapted therapy for childhood medulloblastoma. J Clin Oncol 23:5511–5519.
Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T et al (2017) The wholegenome landscape of medulloblastoma subtypes. Nature 547:311–317.
Northcott PA, Korshunov A, Witt H, Hielscher T, Eberhart CG, Mack S et al (2011) Medulloblastoma comprises four distinct molecular variants. J Clin Oncol 29:1408–1414.
Northcott PA, Lee C, Zichner T, Stütz AM, Erkek S, Kawauchi D et al (2014) Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma. Nature 511:428–434.
Northcott PA, Shih DJH, Remke M, Cho YJ, Kool M, Hawkins C et al (2012) Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples. Acta Neuropathol 123:615–626.
Olivier TW, Bass JK, Ashford JM, Beaulieu R, Scott SM, Schreiber JE et al (2019) Cognitive implications of ototoxicity in pediatric patients with embryonal brain tumors. J Clin Oncol 37:1566–1575.
Ostrom QT, Gittleman H, Truitt G, Boscia A, Kruchko C, Barnholtz-Sloan JS (2018) CBTRUS statistical report: primary brain and other central nervous system tumors diagnosed in the United States in 2011–2015. NeuroOncology 20(suppl_4):iv1–iv86.
Patay Z, DeSain LA, Hwang SN, Coan A, Li Y, Ellison DW (2015) MR imaging characteristics of wingless-type– subgroup pediatric medulloblastoma. Am J Neuroradiol 36:2386–2393.
Phoenix TN, Patmore DM, Boop S, Boulos N, Jacus MO, Patel YT et al (2016) Medulloblastoma genotype dictates blood brain barrier phenotype. Cancer Cell 29:508–522.
Ramaswamy V, Remke M, Bouffet E, Bailey S, Clifford SC, Doz F, Kool M (2016) Risk stratification of childhood medulloblastoma in the molecular era: the current consensus. Acta Neuropathol 131:821–831.
Rausch T, Jones DTW, Zapatka M, Stütz AM, Zichner T, Weischenfeldt J et al (2012) Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 148:59–71.
Remke M, Hielscher T, Korshunov A, Northcott PA, Bender S, Kool M et al (2011) FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma. J Clin Oncol 29:3852–3861.
Remke M, Hielscher T, Northcott PA, Witt H, Ryzhova M, Wittmann A et al (2011) Adult medulloblastoma comprises three major molecular variants. J Clin Oncol 29:2717–2723.
Roberts RO, Lynch CF, Jones MP, Hart MN (1991) Medulloblastoma: a population-based study of 532 cases. J Neuropathol Exp Neurol 50:134–144.
Robinson G, Parker M, Kranenburg TA, Lu C, Chen X, Ding L et al (2012) Novel mutations target distinct subgroups of medulloblastoma. Nature 488:43–48.
Robinson GW, Rudneva VA, Buchhalter I, Billups CA, Waszak SM, Smith KS et al (2018) Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial. Lancet Oncol 19:768–784.
Rubinstein LJ, Northfield DWC (1964) The medulloblastoma and the so–called “arachnoidal cerebellar sarcoma”. Brain 87:379–412.
Salloum R, Chen Y, Yasui Y, Packer R, Leisenring W, Wells E et al (2019) Late morbidity and mortality among medulloblastoma survivors diagnosed across three decades: a report from the childhood cancer survivor study. J Clin Oncol 37:731–740.
Sandoval J, Heyn H, Moran S, Serra-Musach J, Pujana MA, Bibikova M, Esteller M (2011) Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics 6:692–702.
Schwalbe EC, Lindsey JC, Nakjang S, Crosier S, Smith AJ, Hicks D et al (2017) Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study. Lancet Oncol 18:958–971.
Schwalbe EC, Williamson D, Lindsey JC, Hamilton D, Ryan SL, Megahed H et al (2013) DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies. Acta Neuropathol 125:359–371.
Sharma T, Schwalbe EC, Williamson D, Sill M, Hovestadt V, Mynarek M et al (2019) Second-generation molecular subgrouping of medulloblastoma: an international metaanalysis of Group 3 and Group 4 subtypes. Acta Neuropathol 138:309–326.
Shih DJ, Northcott PA, Remke M, Korshunov A, Ramaswamy V, Kool M et al (2014) Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol 32:886–896.
Stefanits H, Ebetsberger-Dachs G, Weis S, Haberler C (2014) Medulloblastoma with multi-lineage differentiation including myogenic and melanotic elements: a case report with molecular data. Clin Neuropathol 33:122–127.
Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DT, Capper D et al (2016) New brain tumor entities emerge from molecular classification of CNS-PNETs. Cell 164:1060–1072.
Taylor RE, Bailey CC, Robinson K, Weston CL, Ellison D, Ironside J et al (2003) Results of a randomized study of preradiation chemotherapy versus radiotherapy alone for nonmetastatic medulloblastoma: the International Society of Paediatric Oncology/United Kingdom Children’s Cancer Study Group PNET-3 Study. J Clin Oncol 21:1581–1591.
Taylor MD, Northcott PA, Korshunov A, Remke M, Cho YJ, Clifford SC et al (2012) Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 123:465–472.
Thompson MC, Fuller C, Hogg TL, Dalton J, Finkelstein D, Lau CC et al (2006) Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 24:1924–1931.
Zhukova N, Ramaswamy V, Remke M, Pfaff E, Shih DJ, Martin DC et al (2013) Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma. J Clin Oncol 31:2927–2935.