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在固体瘤中使用523基因下一代测序面板和NxClinical软件对临床相关的副本数量改变 (CNA) 的全面分析

Vivek Gupta^1,2, Vishakha Vashisht², Ashutosh Vashisht²

¹Department of Pathology, Government Institute of Medical Sciences, Greater Noida 201310, India.

|April 27, 2024

概括

下一代测序 (NGS) 准确地检测到不同癌症的副本数量变化 (CNA). 该方法使用TSO500和NxClinical软件,与传统方法具有很高的一致性,有助于个性化癌症诊断.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
生物信息学是一种生物信息学.

背景情况:

拷贝数变化 (CNAs) 是癌症发展和进展的关键驱动因素.
准确识别CNA对于开发向治疗和个性化癌症诊断至关重要.
下一代测序 (NGS) 为基因组分析提供了可扩展和具有成本效益的解决方案,克服了旧方法的局限性.

研究的目的:

用Illumina的TruSight Oncology 500 (TSO500) 来评估NGS的性能,用于检测各种FFPE瘤样本中的CNA.
将基于NGS的CNA检测与传统方法 (Affymetrix Oncoscan分子倒置探测器 - OS-MIP) 的准确性和一致性进行比较.
评估NxClinical 6.2软件在分析临床相关基因变异的NGS数据中的实用性.

主要方法:

50个FFPE瘤样本的回顾性分析 (乳腺,卵巢,胰腺癌,黑色素瘤,前列腺癌).
使用Illumina TSO500 (NGS) 和Affymetrix OS-MIP (SNP阵列) 进行CNA分析.
使用NxClinical 6.2软件进行数据分析和解释.

主要成果:

使用NxClinical进行的NGS分析表明,CNA检测的灵敏度和特异性为100%,与OS-MIP完全一致.
所有54个已知的CNA都被NGS识别出来,其中复制数增长最频繁 (63%).
在关键癌症基因中观察到的频繁的CNA:MYC (18%),TP53 (12%),BRAF (8%),PIK3CA,EGFR,FGFR1 (6%).

结论:

与NxClinical 6.2软件相结合的NGS TSO500是检测临床相关CNA的高度准确和可靠的方法.
这种方法为个性化癌症治疗策略提供了宝贵的见解.
高诊断精度支持采用NGS用于常规癌症诊断和治疗决策.

关键词:

副本编号变更修改在FFPE固体瘤中.分子逆转探测器的探测器下一代测序的测序方法在 NxClinical 软件.

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