PATH-56. PYROSEQUENCING METHOD FOR RAPID DETECTION OF KIAA1549-BRAF FUSION GENES IN PEDIATRIC BRAIN TUMORS

摘要

Fusion genes driving tumorigenesis have drawn the attention of oncologists and researchers. Recently, independent genomic researchers have identified a tandem duplication of BRAF at 7q34 that leads to several KIAA1549-BRAF gene exon fusions in the majority of pilocytic astrocytoma (PA). Because KIAA1549-BRAF fusion transcripts are usually absent in diffuse astrocytoma, these genetic alterations may have diagnostic value. Despite the importance of such molecular alterations, there are no comprehensive reproducible methods to detect these fusion genes.