期刊
NATURE
卷 488, 期 7409, 页码 49-56出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nature11327
关键词
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资金
- CIHR Clinician-Scientist Phase II award
- Sontag Foundation
- Pediatric Brain Tumour Foundation
- National Institutes of Health [CA159859]
- The Family of Kathleen Lorette
- Clark H. Smith Brain Tumour Centre
- Montreal Children's Hospital Foundation
- Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre
- Chief of Research Fund
- Cancer Genetics Program
- Garron Family Cancer Centre
- B.R.A.I.N. Child
- CIHR [ATE-110814]
- University of Toronto McLaughlin Centre
- CIHR Institute of Cancer Research [AT1-112286]
- BC Cancer Foundation
- Children's Discovery Institute
- Restracomp Fellowship (Hospital for Sick Children)
- Ontario Institute for Cancer Research
- Government of Ontario
- NIH [CA86335, CA116804, CA138292]
- NCI [28XS100, 29XS193]
- Southeastern Brain Tumour Foundation
- Brain Tumour Foundation for Children
- UK Children's Cancer and Leukaemia Group (CCLG) [BS-2007-04]
- German Cancer Aid [109252]
- Cancer Research UK [13457] Funding Source: researchfish
- The Brain Tumour Charity [16/92] Funding Source: researchfish
Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.
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