PMID- 22568401
OWN - NLM
STAT- MEDLINE
DCOM- 20130423
LR  - 20211021
IS  - 1750-3639 (Electronic)
IS  - 1015-6305 (Print)
IS  - 1015-6305 (Linking)
VI  - 22
IP  - 6
DP  - 2012 Nov
TI  - Frequent BRAF gain in low-grade diffuse gliomas with 1p/19q loss.
PG  - 834-40
LID - 10.1111/j.1750-3639.2012.00601.x [doi]
AB  - Chromosomal 7q34 duplication and BRAF-KIAA1549 fusion is a characteristic genetic 
      alteration in pilocytic astrocytomas. 7q34 gain appears to be common in diffuse 
      astrocytomas, but its significance is unclear. We assessed BRAF gain and BRAF 
      mutations in 123 low-grade diffuse gliomas, including 55 diffuse astrocytomas, 18 
      oligoastrocytomas and 50 oligodendrogliomas. Quantitative polymerase chain 
      reaction (PCR) revealed BRAF gain in 17/50 (34%) oligodendrogliomas, a 
      significantly higher frequency than in diffuse astrocytomas (7/55; 13%; P = 
      0.0112). BRAF gain was common in low-grade diffuse gliomas with 1p/19q loss (39%) 
      and those lacking any of the genetic alterations analyzed (31%), but was rare in 
      those with TP53 mutations (2%). Logistic regression analysis showed a significant 
      positive association between 1p/19q loss and BRAF gain (P = 0.0032) and a 
      significant negative association between TP53 mutations and BRAF gain (P = 
      0.0042). Fluorescence in situ hybridization (FISH) analysis of 26 low-grade 
      diffuse gliomas with BRAF gain additionally revealed BRAF-KIAA1549 fusion in one 
      oligodendroglioma. Sequencing of cDNA in 17 low-grade diffuse gliomas showed 
      BRAF-KIAA1549 fusion in another oligodendroglioma. A BRAF(V600E) mutation was 
      also detected in one oligodendroglioma, and a BRAF(A598V) in one diffuse 
      astrocytoma. These results suggest that low-grade diffuse gliomas with 1p/19q 
      loss have frequent BRAF gains, and a small fraction of oligodendrogliomas may 
      show BRAF-KIAA1549 fusion.
CI  - (c) 2012 The Authors; Brain Pathology (c) 2012 International Society of 
      Neuropathology.
FAU - Kim, Young-Ho
AU  - Kim YH
AD  - International Agency for Research on Cancer, Lyon, France.
FAU - Nonoguchi, Naosuke
AU  - Nonoguchi N
FAU - Paulus, Werner
AU  - Paulus W
FAU - Brokinkel, Benjamin
AU  - Brokinkel B
FAU - Keyvani, Kathy
AU  - Keyvani K
FAU - Sure, Ulrich
AU  - Sure U
FAU - Wrede, Karsten
AU  - Wrede K
FAU - Mariani, Luigi
AU  - Mariani L
FAU - Giangaspero, Felice
AU  - Giangaspero F
FAU - Tanaka, Yuko
AU  - Tanaka Y
FAU - Nakazato, Yoichi
AU  - Nakazato Y
FAU - Vital, Anne
AU  - Vital A
FAU - Mittelbronn, Michel
AU  - Mittelbronn M
FAU - Perry, Arie
AU  - Perry A
FAU - Ohgaki, Hiroko
AU  - Ohgaki H
LA  - eng
PT  - Journal Article
DEP - 20120601
PL  - Switzerland
TA  - Brain Pathol
JT  - Brain pathology (Zurich, Switzerland)
JID - 9216781
RN  - 0 (BRAF-KIAA1549 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.11.1 (BRAF protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
SB  - IM
MH  - Brain Neoplasms/*genetics/pathology
MH  - *Chromosomes, Human, Pair 1/genetics
MH  - *Chromosomes, Human, Pair 19/genetics
MH  - Glioma/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mutation
MH  - Neoplasm Grading
MH  - Oncogene Proteins, Fusion/genetics
MH  - Proto-Oncogene Proteins B-raf/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
PMC - PMC8057626
EDAT- 2012/05/10 06:00
MHDA- 2013/04/24 06:00
PMCR- 2012/06/01
CRDT- 2012/05/10 06:00
PHST- 2012/05/10 06:00 [entrez]
PHST- 2012/05/10 06:00 [pubmed]
PHST- 2013/04/24 06:00 [medline]
PHST- 2012/06/01 00:00 [pmc-release]
AID - BPA601 [pii]
AID - 10.1111/j.1750-3639.2012.00601.x [doi]
PST - ppublish
SO  - Brain Pathol. 2012 Nov;22(6):834-40. doi: 10.1111/j.1750-3639.2012.00601.x. Epub 
      2012 Jun 1.