一种检测儿童脑肿瘤中融合基因的综合方法。
A Comprehensive Method for Detecting Fusion Genes in Paediatric Brain Tumours.
作者信息
Kondo Akihide, Shimizu Yuzaburo, Adachi Satoshi, Ogino Ikuko, Suzuki Mario, Akiyama Osamu, Arai Hajime
机构信息
Department of Neurosurgery, Juntendo University Faculty of Medicine, Tokyo, Japan
Department of Neurosurgery, Juntendo University Faculty of Medicine, Tokyo, Japan.
出版信息
Cancer Genomics Proteomics. 2018 Jul-Aug;15(4):343-348. doi: 10.21873/cgp.20093.
BACKGROUND
Fusion genes driving tumourigenesis have drawn the attention of researchers and oncologists. Despite the importance of such molecular alterations, there are no comprehensive reproducible methods for detecting fusion genes.
MATERIALS AND METHODS
Nineteen paediatric brain tumours of five types, namely pilocytic astrocytoma, oligodendroglioma, anaplastic astrocytoma, glioblastoma and, ganglioglioma, were examined to detect fusion genes using a pyrosequencing-based method following RNA isolation, cDNA synthesis and real-time polymerase chain reaction.
RESULTS
Our method successfully detected KIAA1549-v-raf murine sarcoma viral oncogene homolog B1 (BRAF) fusion in 14 out of 19 patients suffering from five types of paediatric brain tumours providing information on fusion breakpoints within 2 h.
CONCLUSION
A comprehensive method for detecting fusion genes in paediatric brain tumours was evaluated. This method identified KIAA1549-BRAF fusion variants quickly. Our results may help researchers interested in the role of fusion genes in tumourigenesis.
背景
驱动肿瘤发生的融合基因已引起研究人员和肿瘤学家的关注。尽管此类分子改变很重要，但尚无全面且可重复的检测融合基因的方法。
材料与方法
对19例五种类型的小儿脑肿瘤（即毛细胞型星形细胞瘤、少突胶质细胞瘤、间变性星形细胞瘤、胶质母细胞瘤和节细胞胶质瘤）进行检测，在RNA分离、cDNA合成及实时聚合酶链反应后，采用焦磷酸测序法检测融合基因。
结果
我们的方法成功在19例患有五种类型小儿脑肿瘤的患者中的14例中检测到KIAA1549 - v - raf鼠肉瘤病毒癌基因同源物B1（BRAF）融合，在2小时内提供了融合断点信息。
结论
评估了一种检测小儿脑肿瘤中融合基因的综合方法。该方法能快速鉴定KIAA1549 - BRAF融合变体。我们的结果可能有助于对融合基因在肿瘤发生中作用感兴趣的研究人员。
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