Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.
Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.
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DOI：
10.1111/bpa.12167
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发表时间：
2015-03
期刊：
影响因子：
--
通讯作者：
Biegel JA
中科院分区：
文献类型：
--
作者：
Roth JJ;Santi M;Pollock AN;Harding BN;Rorke-Adams LB;Tooke LS;Biegel JA
The majority of pediatric low grade gliomas (LGGs) are characterized by constitutive activation of the mitogen activated protein kinase (MAPK) pathway through various mechanisms including BRAF mutations, inactivation of NF1, and KIAA1549-BRAF and FAM131B-BRAF fusions. The KIAA1549-BRAF fusion typically results from a 2.0 Mb tandem duplication in chromosome band 7q34. In the present study, single nucleotide polymorphism (SNP)-based array analysis of three LGGs demonstrated deletions in 7q34 that resulted in a BRAF fusion. Case 1 was likely a pilocytic astrocytoma (PA) with three deletions in 7q33q34 and an exon15-9 KIAA1549-BRAF fusion. SNP array analysis of case 2, a possible dysembryoplastic neuroepithelial tumor (DNT), revealed a 2.6 Mb deletion which included the 5′ end of BRAF and extended to the 3′ end of FAM131B. In case 3, deletions involving BRAF and FAM131B were observed in both a primary and recurrent PA. RNA-based sequence analysis of cases 2 and 3 confirmed a fusion between FAM131B exon 2 and BRAF exon 9. The presence of fusion transcripts in these three LGGs highlights the utility of SNP array analysis to identify deletions that are suggestive of fusion proteins. BRAF fusions can result from multiple non-overlapping deletions suggesting various complex mechanisms of formation.
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作者：
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