Unknown

Dataset Information

0

Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.


ABSTRACT: Brain tumors are the most common solid tumors of childhood, and pilocytic astrocytomas (PA) are the most common central nervous system tumor in 5 to 19 year olds. Little is known about the genetic alterations underlying their development. Here, we describe a tandem duplication of approximately 2 Mb at 7q34 occurring in 66% of PAs. This rearrangement, which was not observed in a series of 244 higher-grade astrocytomas, results in an in-frame fusion gene incorporating the kinase domain of the BRAF oncogene. We further show that the resulting fusion protein has constitutive BRAF kinase activity and is able to transform NIH3T3 cells. This is the first report of BRAF activation through rearrangement as a frequent feature in a sporadic tumor. The frequency and specificity of this change underline its potential both as a therapeutic target and as a diagnostic tool.

SUBMITTER: Jones DT 

PROVIDER: S-EPMC2577184 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature

altmetric image

Publications

Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.

Jones David T W DT   Kocialkowski Sylvia S   Liu Lu L   Pearson Danita M DM   Bäcklund L Magnus LM   Ichimura Koichi K   Collins V Peter VP  

Cancer research 20081101 21


Brain tumors are the most common solid tumors of childhood, and pilocytic astrocytomas (PA) are the most common central nervous system tumor in 5 to 19 year olds. Little is known about the genetic alterations underlying their development. Here, we describe a tandem duplication of approximately 2 Mb at 7q34 occurring in 66% of PAs. This rearrangement, which was not observed in a series of 244 higher-grade astrocytomas, results in an in-frame fusion gene incorporating the kinase domain of the BRAF  ...[more]

Similar Datasets

2009-04-15 | E-GEOD-11265 | biostudies-arrayexpress
2009-04-15 | GSE11265 | GEO
| S-EPMC4470527 | biostudies-literature
| S-EPMC5009478 | biostudies-literature
| S-EPMC2685777 | biostudies-literature
| S-EPMC2736806 | biostudies-literature
| S-EPMC5407815 | biostudies-literature
| S-EPMC9582396 | biostudies-literature
| S-EPMC2289793 | biostudies-literature
| S-EPMC4022218 | biostudies-literature