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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas
Journal of Molecular Diagnostics, Volume 13, No. 6, Year 2011
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Description
Alterations of BRAF are the most common known genetic aberrations in pediatric gliomas. They frequently are found in pilocytic astrocytomas, where genomic duplications involving BRAF and the poorly characterized gene KIAA1549 create fusion proteins with constitutive B-Raf kinase activity. BRAF V600E point mutations are less common and generally occur in nonpilocytic tumors. The development of BRAF inhibitors as drugs has created an urgent need for robust clinical assays to identify activating lesions in BRAF. KIAA1549-BRAF fusion transcripts have been detected in frozen tissue, however, methods for FFPE tissue have not been reported. We developed a panel of FFPE-compatible quantitative RT-PCR assays for the most common KIAA1549-BRAF fusion transcripts. Application of these assays to a collection of 51 low-grade pediatric gliomas showed 97% sensitivity and 91% specificity compared with fluorescence in situ hybridization or array comparative genomic hybridization. In parallel, we assayed samples for the presence of the BRAF V600E mutation by PCR pyrosequencing. The data further support previous observations that these two alterations of the BRAF, KIAA1549 fusions and V600E point mutations, are associated primarily with pilocytic astrocytomas and nonpilocytic gliomas, respectively. These results show that fusion transcripts and mutations can be detected reliably in standard FFPE specimens and may be useful for incorporation into future studies of pediatric gliomas in basic science or clinical trials. Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology.
Authors & Co-Authors
Tian, Yongji
Unknown Affiliation
Rich, Benjamin E.
Unknown Affiliation
Vena, Natalie
Unknown Affiliation
Craig, Justin M.
Unknown Affiliation
MacConaill, Laura E.
Unknown Affiliation
Rajaram, Veena
Unknown Affiliation
Goldman, Stewart
Unknown Affiliation
Taha, Hala
Unknown Affiliation
Mahmoud, Madeha
Unknown Affiliation
Ozek, Memet
Unknown Affiliation
Sav, Aydin
Unknown Affiliation
Longtine, Janina A.
Unknown Affiliation
Lindeman, Neal I.
Unknown Affiliation
Garraway, Levi A.
Unknown Affiliation
Ligon, Azra H.
Unknown Affiliation
Stiles, Charles D.
Unknown Affiliation
Santagata, Sandro
Unknown Affiliation
Chan, Jennifer A.W.
Unknown Affiliation
Kieran, Mark W.
Unknown Affiliation
Ligon, Keith L.
Unknown Affiliation
Statistics
Citations: 80
Authors: 20
Affiliations: 9
Identifiers
Doi:
10.1016/j.jmoldx.2011.07.002
ISSN:
15251578
Research Areas
Cancer
Genetics And Genomics
Study Approach
Quantitative