Gone FISHing: Clinical Lessons Learned in Brain Tumor Molecular Diagnostics over the Last Decade
Gone FISHing: Clinical Lessons Learned in Brain Tumor Molecular Diagnostics over the Last Decade
复制标题
DOI：
10.1111/j.1750-3639.2010.00453.x
复制
发表时间：
2011-01-01
期刊：
影响因子：
6.4
通讯作者：
Perry, Arie
中科院分区：
文献类型：
--
作者：
Horbinski, Craig;Miller, C. Ryan;Perry, Arie
荧光原位杂交（FISH）是一种强大的基于形态学的技术，用于评估福尔马林固定石蜡包埋组织中靶向拷贝数改变或基因重排。它在常规临床环境中广泛应用于识别细胞遗传学生物标志物，以获得更准确的诊断和预后分层。本文综述和更新了FISH作为脑肿瘤（包括胶质瘤、胚胎肿瘤、室管膜瘤和脑膜瘤）分子诊断工具的实际应用，重点关注关键的遗传生物标志物，如1p19q密码缺失、表皮生长因子受体（EGFR）基因扩增、BRAF重排等。还讨论了过去十年的经验教训，包括在临床环境中实施和解释FISH结果时需要考虑的常见技术问题。
Fluorescence in situ hybridization (FISH) is a powerful, morphology-based technique to assess targeted copy number alterations or gene rearrangements in formalin-fixed, paraffin-embedded tissues. It has a wide range of applications in routine clinical contexts to identify cytogenetic biomarkers for more accurate diagnosis and prognostic stratification. This review and update addresses practical uses of FISH as a molecular diagnostic tool in the setting of brain tumors, including gliomas, embryonal neoplasms, ependymomas and meningiomas, focusing on key genetic biomarkers, such as 1p19q codeletion, epidermal growth factor receptor (EGFR) gene amplification, BRAF rearrangement and many others. Also discussed are lessons learned over the past decade, including common technical issues to consider when implementing and interpreting FISH results in a clinical setting.