文章：

利用光学基因组图谱检测神经母细胞瘤中的结构变异

Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma

原文发布日期：31 October 2023

DOI: 10.3390/cancers15215233

类型: Article

开放获取: 是

英文摘要：

Background: Neuroblastoma is the most common extracranial solid tumour in children, accounting for 15% of paediatric cancer deaths. Multiple genetic abnormalities have been identified as prognostically significant in neuroblastoma patients. Optical genome mapping (OGM) is a novel cytogenetic technique used to detect structural variants, which has not previously been tested in neuroblastoma. We used OGM to identify copy number and structural variants (SVs) in neuroblastoma which may have been missed by standard cytogenetic techniques. Methods: Five neuroblastoma cell lines (SH-SY5Y, NBLW, GI-ME-N, NB1691 and SK-N-BE2(C)) and two neuroblastoma tumours were analysed using OGM with the Bionano Saphyr®instrument. The results were analysed using Bionano Access software and compared to previous genetic analyses including G-band karyotyping, FISH (fluorescent in situ hybridisation), single-nucleotide polymorphism (SNP) array and RNA fusion panels for cell lines, and SNP arrays and whole genome sequencing (WGS) for tumours. Results: OGM detected copy number abnormalities found using previous methods and provided estimates for absolute copy numbers of amplified genes. OGM identified novel SVs, including fusion genes in two cell lines of potential clinical significance. Conclusions: OGM can reliably detect clinically significant structural and copy number variations in a single test. OGM may prove to be more time- and cost-effective than current standard cytogenetic techniques for neuroblastoma.

摘要翻译： 

背景：神经母细胞瘤是儿童最常见的颅外实体肿瘤，占儿童癌症死亡病例的15%。多种遗传异常已被证实对神经母细胞瘤患者的预后具有重要影响。光学基因组图谱（OGM）是一种用于检测结构变异的新型细胞遗传学技术，此前尚未在神经母细胞瘤中进行过测试。我们采用OGM技术识别神经母细胞瘤中可能被标准细胞遗传学技术遗漏的拷贝数变异和结构变异。 方法：使用Bionano Saphyr®仪器对五种神经母细胞瘤细胞系（SH-SY5Y、NBLW、GI-ME-N、NB1691和SK-N-BE2(C)）及两个神经母细胞瘤肿瘤样本进行OGM分析。通过Bionano Access软件分析结果，并与既往遗传学检测结果进行比对：细胞系数据对比G显带核型分析、荧光原位杂交、单核苷酸多态性阵列及RNA融合基因检测；肿瘤样本数据对比单核苷酸多态性阵列和全基因组测序。 结果：OGM成功检测到既往方法发现的拷贝数异常，并对扩增基因的绝对拷贝数进行了定量评估。该技术还识别出新型结构变异，包括在两个细胞系中发现具有潜在临床意义的融合基因。 结论：OGM单次检测即可可靠识别具有临床意义的结构变异和拷贝数变异。对于神经母细胞瘤的检测，OGM可能比现行标准细胞遗传学技术更具时间与成本效益。

原文链接：

Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma