PMID- 23592488
OWN - NLM
STAT- MEDLINE
DCOM- 20131107
LR  - 20211021
IS  - 1949-2553 (Electronic)
IS  - 1949-2553 (Linking)
VI  - 4
IP  - 4
DP  - 2013 Apr
TI  - Exomic sequencing of four rare central nervous system tumor types.
PG  - 572-83
AB  - 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.
FAU - Bettegowda, Chetan
AU  - Bettegowda C
AD  - Department of Neurosurgery, Johns Hopkins University School of Medicine, 
      Baltimore, MD, USA. cbetteg1@jhmi.edu
FAU - Agrawal, Nishant
AU  - Agrawal N
FAU - Jiao, Yuchen
AU  - Jiao Y
FAU - Wang, Yuxuan
AU  - Wang Y
FAU - Wood, Laura D
AU  - Wood LD
FAU - Rodriguez, Fausto J
AU  - Rodriguez FJ
FAU - Hruban, Ralph H
AU  - Hruban RH
FAU - Gallia, Gary L
AU  - Gallia GL
FAU - Binder, Zev A
AU  - Binder ZA
FAU - Riggins, Callen J
AU  - Riggins CJ
FAU - Salmasi, Vafi
AU  - Salmasi V
FAU - Riggins, Gregory J
AU  - Riggins GJ
FAU - Reitman, Zachary J
AU  - Reitman ZJ
FAU - Rasheed, Ahmed
AU  - Rasheed A
FAU - Keir, Stephen
AU  - Keir S
FAU - Shinjo, Sueli
AU  - Shinjo S
FAU - Marie, Suely
AU  - Marie S
FAU - McLendon, Roger
AU  - McLendon R
FAU - Jallo, George
AU  - Jallo G
FAU - Vogelstein, Bert
AU  - Vogelstein B
FAU - Bigner, Darell
AU  - Bigner D
FAU - Yan, Hai
AU  - Yan H
FAU - Kinzler, Kenneth W
AU  - Kinzler KW
FAU - Papadopoulos, Nickolas
AU  - Papadopoulos N
LA  - eng
GR  - R37 CA043460/CA/NCI NIH HHS/United States
GR  - R01 CA140316/CA/NCI NIH HHS/United States
GR  - CA057345/CA/NCI NIH HHS/United States
GR  - 5R01-CA140316/CA/NCI NIH HHS/United States
GR  - RC2DE020957/DE/NIDCR NIH HHS/United States
GR  - R37 CA057345/CA/NCI NIH HHS/United States
GR  - R01 CA057345/CA/NCI NIH HHS/United States
GR  - RC2 DE020957/DE/NIDCR NIH HHS/United States
GR  - T32 CA059365/CA/NCI NIH HHS/United States
GR  - T32 CA130840/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Oncotarget
JT  - Oncotarget
JID - 101532965
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Astrocytoma/*genetics
MH  - Central Nervous System Neoplasms/*genetics
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Ependymoma/*genetics
MH  - Exome
MH  - Female
MH  - Glioblastoma/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
MH  - Young Adult
PMC - PMC3720605
EDAT- 2013/04/18 06:00
MHDA- 2013/11/08 06:00
PMCR- 2013/04/01
CRDT- 2013/04/18 06:00
PHST- 2013/04/18 06:00 [entrez]
PHST- 2013/04/18 06:00 [pubmed]
PHST- 2013/11/08 06:00 [medline]
PHST- 2013/04/01 00:00 [pmc-release]
AID - 964 [pii]
AID - 10.18632/oncotarget.964 [doi]
PST - ppublish
SO  - Oncotarget. 2013 Apr;4(4):572-83. doi: 10.18632/oncotarget.964.