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在探索性基因组学和在序列性质母细胞瘤中翻译的边界上

Marton Tompa^1,2, Bence Galik¹, Peter Urban¹

¹Szentagothai Research Center, University of Pecs, 20. Ifjusag Street, 7624 Pecs, Hungary.

International journal of molecular sciences

|July 27, 2024

概括

整体外基因组测序 (WES) 可以在诊断和复发时识别质母细胞瘤 (GBM) 瘤中的致癌变体. 虽然治疗适用性通常是有限的,但WES数据有助于理解GBM分子动力学,并支持临床试验.

科学领域:

基因组学和瘤学
分子诊断学分子诊断
癌症生物学癌症生物学

背景情况:

尽管癌症治疗取得了进展,但质母细胞瘤 (GBM) 的临床结果得到了有限的改善.
OMICS技术提高了对瘤生物学的理解,但它们在GBM中的临床实用性仍然被低估.
在临床实践中,固定在甲中,嵌入胺 (FFPE) 组织是常见的,因此需要适用于这些样品的方法.

研究的目的:

评估整体外因子测序 (WES) 的临床实用性,用于识别质母细胞瘤的致癌变异.
分析原发性 (GBM-P) 和复发性 (GBM-R) 质母细胞瘤样本之间的分子差异.
根据既定指南,评估已识别的变异的治疗意义.

主要方法:

在十对FFPE GBM标本 (原发性和复发性) 上进行了全外体序列 (WES) 测序.
用于数据过和变种识别 (VarSeq软件) 的是一个严格的,定制的生物信息管道.
鉴定的致癌和可能致癌变体与COSMIC数据库进行了比较,并根据AMP指南进行评估.

主要成果:

在初级GBM中,WES平均发现了4种瘤原发性/可能的瘤原发性变异,在复发性GBM中发现了5种.
在初级和复发对之间平均检测到一个共享的致癌/可能致癌变体.
鉴定变异的治疗适用性通常是有限的,但在特定情况下有价值.

结论:

整体外体序列测序对于识别FFPE质母细胞瘤标本中的致癌变体是有效的,与研究结果保持一致.
WES分析有助于对连续的GBM样本中的分子变化进行监测.
根据AMP指南评估的变异数据可以为临床决策提供信息,并支持创新的研究试验.

关键词:

临床实用性的临床实用性深度生物信息学深度生物信息学质母细胞瘤是一种质母细胞瘤.整体外基因组测序的测序

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