期刊
ONCOTARGET
卷 4, 期 4, 页码 572-583出版社
IMPACT JOURNALS LLC
DOI: 10.18632/oncotarget.964
关键词
Central nervous system (CNS) tumors; cancer genetics; exome sequencing; pediatric tumors; brain tumors
资金
- Virginia and D.K. Ludwig Fund for Cancer Research
- Pediatric Brain Tumor Foundation
- Malia's Cord Foundation
- Burroughs Wellcome Career Award for Medical Scientists
- Johns Hopkins Clinical Scientist Award [RC2DE020957, 5R01-CA140316, CA057345]
- American Cancer Society Research Scholar Award [RSG-10-126-01-CCE]
- FAPESP [01/12898-4, 04/12133-6]
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [04/12133-6] Funding Source: FAPESP
A heterogeneous population of uncommon neoplasms of the central nervous system (CNS) cause significant morbidity and mortality. To explore their genetic origins, we sequenced the exomes of 12 pleomorphic xanthoastrocytomas (PXA), 17 non-brainstem pediatric glioblastomas (PGBM), 8 intracranial ependymomas (IEP) and 8 spinal cord ependymomas (SCEP). Analysis of the mutational spectra revealed that the predominant single base pair substitution was a C: G>T: A transition in each of the four tumor types. Our data confirm the critical roles of several known driver genes within CNS neoplasms, including TP53 and ATRX in PGBM, and NF2 in SCEPs. Additionally, we show that activating BRAF mutations play a central role in both low and high grade glial tumors. Furthermore, alterations in genes coding for members of the mammalian target of rapamycin (mTOR) pathway were observed in 33% of PXA. Our study supports the hypothesis that pathologically similar tumors arising in different age groups and from different compartments may represent distinct disease processes with varied genetic composition.
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