Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study

The Lancet Oncology

Volumn 18, Issue 7, 2017, Pages 958-971

  Schwalbe, Edward C ^a,b   Lindsey, Janet C ^a   Nakjang, Sirintra ^a   Crosier, Stephen ^a   Smith, Amanda J ^a   Hicks, Debbie ^a   Rafiee, Gholamreza ^a   Hill, Rebecca M ^a   Iliasova, Alice ^a,b   Stone, Thomas ^d   Pizer, Barry ^e   Michalski, Antony ^c   Joshi, Abhijit ^f   Wharton, Stephen B ^g   Jacques, Thomas S ^d   Bailey, Simon ^a   Williamson, Daniel ^a   Clifford, Steven C ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NORTHUMBRIA UNIVERSITY   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF LIVERPOOL   (United Kingdom)

^f ROYAL VICTORIA INFIRMARY   (United Kingdom)

^g UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEDULLOBLASTOMA GROUP 3 PROTEIN; MEDULLOBLASTOMA GROUP 4 PROTEIN; SONIC HEDGEHOG PROTEIN; TUMOR PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN; BETA CATENIN; CTNNB1 PROTEIN, HUMAN; GLI2 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; MYC PROTEIN; MYCN PROTEIN, HUMAN; N MYC PROTO ONCOGENE PROTEIN; NUCLEAR PROTEIN; PROTEIN P53; PROTEIN PATCHED 1; PTCH PROTEIN, HUMAN; REPRESSOR PROTEIN; SMO PROTEIN, HUMAN; SMOOTHENED PROTEIN; SUFU PROTEIN, HUMAN; TELOMERASE; TERT PROTEIN, HUMAN; TP53 PROTEIN, HUMAN; TRANSCRIPTOME;

ADOLESCENT; ADULT; ARTICLE; CANCER CLASSIFICATION; CANCER PROGNOSIS; CANCER RISK; CANCER SURVIVAL; CHILD; CHILDHOOD CANCER; CLINICAL FEATURE; CLINICAL OUTCOME; COHORT ANALYSIS; CONTROLLED STUDY; CRANIOSPINAL IRRADIATION; DNA METHYLATION; FEMALE; HIGH RISK PATIENT; HUMAN; HUMAN CELL; INFANT; LOW RISK PATIENT; MAJOR CLINICAL STUDY; MALE; MEDULLOBLASTOMA; MICROARRAY ANALYSIS; NEWBORN; PREDICTION; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; RETROSPECTIVE STUDY; RISK FACTOR; AGE; CEREBELLAR NEOPLASMS; CLASSIFICATION; DISEASE FREE SURVIVAL; GENE AMPLIFICATION; GENETICS; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PROCEDURES; RISK ASSESSMENT; SURVIVAL RATE; VALIDATION STUDY;

ADOLESCENT; AGE FACTORS; BETA CATENIN; CEREBELLAR NEOPLASMS; CHILD; CHILD, PRESCHOOL; DISEASE-FREE SURVIVAL; DNA METHYLATION; FEMALE; GENE AMPLIFICATION; HUMANS; INFANT; INFANT, NEWBORN; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MEDULLOBLASTOMA; MUTATION; N-MYC PROTO-ONCOGENE PROTEIN; NUCLEAR PROTEINS; PATCHED-1 RECEPTOR; PROTO-ONCOGENE PROTEINS C-MYC; REPRESSOR PROTEINS; RETROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS; SMOOTHENED RECEPTOR; SURVIVAL RATE; TELOMERASE; TRANSCRIPTOME; TUMOR SUPPRESSOR PROTEIN P53;

EID: 85019610513     PISSN: 14702045     EISSN: 14745488     Source Type: Journal    
DOI: 10.1016/S1470-2045(17)30243-7     Document Type: Article

References (30)

1. Taylor, MD, Northcott, PA, Korshunov, A, et al. Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 123 (2012), 465–472.
2. Northcott, PA, Korshunov, A, Witt, H, et al. Medulloblastoma comprises four distinct molecular variants. J Clin Oncol 29 (2011), 1408–1414.
3. Fattet, S, Haberler, C, Legoix, P, et al. Beta-catenin status in paediatric medulloblastomas: correlation of immunohistochemical expression with mutational status, genetic profiles, and clinical characteristics. J Pathol 218 (2009), 86–94.
4. Cho, Y-J, Tsherniak, A, Tamayo, P, et al. Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol 29 (2011), 1424–1430.
5. Kool, M, Koster, J, Bunt, J, et al. Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features. PLoS One, 3, 2008, e3088.
6. Thompson, MC, Fuller, C, Hogg, TL, et al. Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 24 (2006), 1924–1931.
7. Schwalbe, EC, Williamson, D, Lindsey, JC, et al. DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies. Acta Neuropathol 125 (2013), 359–371.
8. Hovestadt, V, Remke, M, Kool, M, et al. 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 (2013), 913–916.
9. Pugh, TJ, Weeraratne, SD, Archer, TC, et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 488 (2012), 106–110.
10. Jones, DTW, Jäger, N, Kool, M, et al. Dissecting the genomic complexity underlying medulloblastoma. Nature 488 (2012), 100–105.
11. Robinson, G, Parker, M, Kranenburg, TA, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature 488 (2012), 43–48.
12. Northcott, PA, Jones, DTW, Kool, M, et al. Medulloblastomics: the end of the beginning. Nat Rev Cancer 12 (2012), 818–834.
13. Louis, DN, Perry, A, Reifenberger, G, et al. The 2016 World Health Organization Classification of Tumours of the Central Nervous System: a summary. Acta Neuropathol 131 (2016), 803–820.
14. Ellison, DW, Onilude, OE, Lindsey, JC, et al. beta-Catenin status predicts a favourable outcome in childhood medulloblastoma: the United Kingdom Children's Cancer Study Group Brain Tumour Committee. J Clin Oncol 23 (2005), 7951–7957.
15. Ellison, DW, Kocak, M, Dalton, J, et al. Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables. J Clin Oncol 29 (2011), 1400–1407.
16. Pizer, BL, Clifford, SC, The potential impact of tumour biology on improved clinical practice for medulloblastoma: progress towards biologically driven clinical trials. Br J Neurosurg 23 (2009), 364–375.
17. Robinson, GW, Orr, BA, Wu, G, 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 33 (2015), 2646–2654.
18. Kimura, H, Ng, JMY, Curran, T, Transient inhibition of the Hedgehog pathway in young mice causes permanent defects in bone structure. Cancer Cell 13 (2008), 249–260.
19. Zhukova, N, Ramaswamy, V, Remke, M, et al. Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma. J Clin Oncol 31 (2013), 2927–2935.
20. Ramaswamy, V, Remke, M, Bouffet, E, et al. Risk stratification of childhood medulloblastoma in the molecular era: the current consensus. Acta Neuropathol 131 (2016), 821–831.
21. von Bueren, AO, Kortmann, R-D, von Hoff, K, et al. Treatment of children and adolescents with metastatic medulloblastoma and prognostic relevance of clinical and biologic parameters. J Clin Oncol 34 (2016), 4151–4160.
22. Maaten, LVD, Hinton, G, Visualizing data using t-SNE. J Mach Learn Res 9 (2008), 2579–2605.
23. Ritchie, ME, Phipson, B, Wu, D, et al. limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res, 43, 2015, e47.
24. Peters, TJ, Buckley, MJ, Statham, AL, et al. De novo identification of differentially methylated regions in the human genome. Epigenetics Chromatin, 8, 2015, 6.
25. Love, MI, Huber, W, Anders, S, Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol, 15, 2014, 550.
26. Kool, M, Jones, DTW, Jäger, N, et al. Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25 (2014), 393–405.
27. Heagerty, PJ, Saha-Chaudhuri, P, Saha-Chaudhuri, MP, Package ‘survivalROC’. https://cran.r-project.org/web/packages/survivalROC/survivalROC.pdf, Jan 13, 2013 (accessed March 13, 2017).
28. Shih, DJH, Northcott, PA, Remke, M, et al. Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol 32 (2014), 886–896.
29. Aryee, MJ, Jaffe, AE, Corrada-Bravo, H, et al. Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays. Bioinformatics 30 (2014), 1363–1369.
30. Kool, M, Korshunov, A, Remke, M, 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 123 (2012), 473–484.