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

作者信息

Jones David T W, Kocialkowski Sylvia, Liu Lu, Pearson Danita M, Bäcklund L Magnus, Ichimura Koichi, Collins V Peter

机构信息

Department of Pathology, Division of Molecular Histopathology, University of Cambridge, Cambridge, United Kingdom.

出版信息

Cancer Res. 2008 Nov 1;68(21):8673-7. doi: 10.1158/0008-5472.CAN-08-2097.


DOI:10.1158/0008-5472.CAN-08-2097
PMID:18974108
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2577184/
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.

摘要

相似文献

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[6]
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[7]
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本文引用的文献

[1]
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.

Nat Genet. 2008-6

[2]
High-resolution, dual-platform aCGH analysis reveals frequent HIPK2 amplification and increased expression in pilocytic astrocytomas.

Oncogene. 2008-8-7

[3]
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas.

J Clin Invest. 2008-5

[4]
B-Raf(V600E) signaling deregulates the mitotic spindle checkpoint through stabilizing Mps1 levels in melanoma cells.

Oncogene. 2008-5-15

[5]
Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma.

Neuropediatrics. 2007-4

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Acta Neuropathol. 2007-8

[7]
Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi.

J Invest Dermatol. 2007-6

[8]
Tumor microenvironment and neurofibromatosis type I: connecting the GAPs.

Oncogene. 2007-7-12

[9]
Distinct genetic signatures among pilocytic astrocytomas relate to their brain region origin.

Cancer Res. 2007-2-1

[10]
Genomic analysis of pilocytic astrocytomas at 0.97 Mb resolution shows an increasing tendency toward chromosomal copy number change with age.

J Neuropathol Exp Neurol. 2006-11

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