Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma

Journal of Clinical Oncology

Volumn 31, Issue 23, 2013, Pages 2927-2935

  Zhukova, Nataliya ^a   Ramaswamy, Vijay ^a   Remke, Marc ^a   Pfaff, Elke ^e   Shih, David J H ^a   Martin, Dianna C ^a   Castelo Branco, Pedro ^a   Baskin, Berivan ^a   Ray, Peter N ^a   Bouffet, Eric ^a   Von Bueren, André O ^d,af   Jones, David T W ^e   Northcott, Paul A ^e   Kool, Marcel ^e   Sturm, Dominik ^e   Pugh, Trevor J ^h   Pomeroy, Scott L ⁱ   Cho, Yoon Jae ^j   Pietsch, Torsten ^f   Gessi, Marco ^f   Rutkowski, Stefan ^af   Bognar, Laszlo ^m   Klekner, Almos ^m   Cho, Byung Kyu ^o   Kim, Seung Ki ^o   Wang, Kyu Chang ^o   Eberhart, Charles G ^r   Fevre Montange, Michelle ^s   Fouladi, Maryam ^u   French, Pim J ^v   Kros, Max ^v   Grajkowska, Wieslawa A ^w   Gupta, Nalin ^k   Weiss, William A ^k   Hauser, Peter ⁿ   Jabado, Nada ^c   Jouvet, Anne ^t   Jung, Shin ^q   Kumabe, Toshihiro ^x   Lach, Boleslaw ^b   Leonard, Jeffrey R ^y   Rubin, Joshua B ^y   Liau, Linda M ^l   Massimi, Luca ^z   Pollack, Ian F ^aa   Ra, Young Shin ^p   Van Meir, Erwin G ^ab   Zitterbart, Karel ^ac   Schüller, Ulrich ^g   Hill, Rebecca M ^ad   Lindsey, Janet C ^ad   Schwalbe, Ed C ^ad   Bailey, Simon ^ad   Ellison, David W ^ae   Hawkins, Cynthia ^a   Malkin, David ^a   Clifford, Steven C ^ad   Korshunov, Andrey ^e   Pfister, Stefan ^e   Taylor, Michael D ^a   Tabori, Uri ^a   more..

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f UNIVERSITY OF BONN   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j STANFORD UNIVERSITY   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m UNIVERSITY OF DEBRECEN   (Hungary)

ⁿ SEMMELWEIS UNIVERSITY   (Hungary)

^o Seoul National University Children's Hospital   (South Korea)

^p University of Ulsan   (South Korea)

^q Chonnam National University Hwasun Hospital and Medical School   (South Korea)

^r JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s UNIVERSITÉ DE LYON   (France)

^t HOSPICES CIVILS DE LYON   (France)

^u UNIVERSITY OF CINCINNATI   (United States)

^v ERASMUS MEDICAL CENTER   (Netherlands)

^w CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^x TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^y ST LOUIS CHILDREN S HOSPITAL   (United States)

^z CATHOLIC UNIVERSITY   (Italy)

^aa UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^ab EMORY UNIVERSITY   (United States)

^ac UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^ad NEWCASTLE UNIVERSITY   (United Kingdom)

^ae ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^af UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; SONIC HEDGEHOG PROTEIN; WNT PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CANCER PROGNOSIS; CANCER SURVIVAL; CHILD; CLINICAL OUTCOME; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDULLOBLASTOMA; OVERALL SURVIVAL; PRIORITY JOURNAL; SANGER SEQUENCING; SURVIVAL ANALYSIS; SURVIVAL RATE; CEREBELLUM TUMOR; GENE EXPRESSION PROFILING; GENETICS; INFANT; MIDDLE AGED; MUTATION; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; TUMOR SUPPRESSOR GENE; YOUNG ADULT;

ADOLESCENT; ADULT; CEREBELLAR NEOPLASMS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION PROFILING; GENES, P53; HUMANS; INFANT; MALE; MEDULLOBLASTOMA; MIDDLE AGED; MUTATION; PROGNOSIS; YOUNG ADULT;

EID: 84885423998     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2012.48.5052     Document Type: Article

References (41)

1. 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, multicentre trial. Lancet Oncol 7:813-820, 2006
2. Packer RJ, 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 24: 4202-4208, 2006
3. Jakacki RI, Burger PC, 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 30:2648-2653, 2012
4. Grotzer MA, Janss AJ, Fung K, et al: TrkC expression predicts good clinical outcome in primitive neuroectodermal brain tumors. J Clin Oncol 18:1027-1035, 2000
5. Ray A, Ho M, Ma J, et al: A clinicobiological model predicting survival in medulloblastoma. Clin Cancer Res 10:7613-7620, 2004
6. Thompson MC, Fuller C, Hogg TL, et al: Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 24:1924-1931, 2006
7. Tabori U, Baskin B, Shago M, et al: Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations. J Clin Oncol 28: 1345-1350, 2010
8. Pfaff E, Remke M, Sturm D, et al: TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma. J Clin Oncol 28:5188-5196, 2010
9. Lindsey JC, Hill RM, Megahed H, et al: TP53 mutations in favorable-risk Wnt/Wingless-subtype medulloblastomas. J Clin Oncol 29:e344-e346, 2011; author reply e347-e348
10. Gessi M, von Bueren AO, Rutkowski S, et al: p53 expression predicts dismal outcome for medulloblastoma patients with metastatic disease. J Neurooncol 106:135-141, 2012
11. Cho YJ, Tsherniak A, Tamayo P, et al: Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J Clin Oncol 29:1424-1430, 2011
12. Northcott PA, Korshunov A, Witt H, et al: Medulloblastoma comprises four distinct molecular variants. J Clin Oncol 29:1408-1414, 2011
13. Schwalbe EC, Lindsey JC, Straughton D, et al: Rapid diagnosis of medulloblastoma molecular subgroups. Clin Cancer Res 17:1883-1894, 2011
14. Taylor MD, Northcott PA, Korshunov A, et al: Molecular subgroups of medulloblastoma: The current consensus. Acta Neuropathol 123:465-472, 2012
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 29:1400-1407, 2011
16. Northcott PA, Korshunov A, Pfister SM, et al: The clinical implications of medulloblastoma subgroups. Nat Rev Neurol 8:340-351, 2012
17. 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 123:473-484, 2012
18. Rausch T, Jones DT, Zapatka M, et al: Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 148:59-71, 2012
19. Northcott PA, Shih DJ, Peacock J, et al: Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature 488:49-56, 2012
20. Northcott PA, Shih DJ, Remke M, et al: Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples. Acta Neuropathol 123:615-626, 2012
21. 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:e3088, 2008
22. Remke M, Hielscher T, Korshunov A, et al: FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma. J Clin Oncol 29:3852-3861, 2011
23. Shlien A, Tabori U, Marshall CR, et al: Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 105:11264-11269, 2008
24. Durno CH, Aronson M, Holter S, et al: Distinctive clinical, genetic and cancer features of children with mismatch repair cancer susceptibility and RAS/MAPK syndromes. Neuro-Oncology 12:ii35, 2010
25. Malkin D, Friend SH, Li FP, et al: Germ-line mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med 336:734, 1997
26. Sauerbrei W, Schumacher M: A bootstrap resampling procedure for model building: Application to the Cox regression model. Stat Med 11:2093-2109, 1992
27. International Agency for Research on Cancer: IARC database. http://p53.iarc.fr/
28. Jones DT, Jäger N, Kool M, et al: Dissecting the genomic complexity underlying medulloblastoma. Nature 488:100-105, 2012
29. Pugh TJ, Weeraratne SD, Archer TC, et al: Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 488: 106-110, 2012
30. Robinson G, Parker M, Kranenburg TA, et al: Novel mutations target distinct subgroups of medulloblastoma. Nature 488:43-48, 2012
31. Zhukova N, Lipman T, Castelo-Branco P, et al: WNT activation by lithium abrogates mutant TP53 radiation resistance in medulloblastoma. Pediatr Blood Cancer 59:992, 2012
32. Northcott PA, Shih DJ, Peacock J, et al: Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature 488:49-56, 2012
33. Magrangeas F, Avet-Loiseau H, Munshi NC, et al: Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients. Blood 118:675-678, 2011
34. Molenaar JJ, Koster J, Zwijnenburg DA, et al: Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature 483:589-593, 2012
35. Villani A, Tabori U, Schiffman J, et al: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: A prospective observational study. Lancet Oncol 12: 559-567, 2011
36. Remke M, Hielscher T, Northcott PA, et al: Adult medulloblastoma comprises three major molecular variants. J Clin Oncol 29:2717-2723, 2011
37. Frank AJ, Hernan R, Hollander A, et al: The TP53-ARF tumor suppressor pathway is frequently disrupted in large/cell anaplastic medulloblastoma. Brain Res Mol Brain Res 121:137-140, 2004
38. Ellison DW, Dalton J, Kocak M, et al: Medulloblastoma: Clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol 121:381-396, 2011
39. Pollack IF, Finkelstein SD, Woods J, et al: Expression of p53 and prognosis in children with malignant gliomas. N Engl J Med 346:420-427, 2002
40. Tabori U, Shlien A, Baskin B, et al: TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol 28:1995-2001, 2010
41. Malkin D, Chilton-MacNeill S, Meister LA, et al: Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome. Oncogene 20:4441-4449, 2001