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使用低通量全基因组测序估计的副本数量变化之间的关联,用于甲固定氨酸嵌入前列腺瘤组织和癌症特异性临床参数

Paul Vinu Salachan^1,2, Benedicte Parm Ulhøi³, Michael Borre⁴

¹Department of Molecular Medicine, Aarhus University Hospital, Aarhus N, Denmark.

Scientific reports

|December 17, 2023

概括

前列腺癌组织的低通全基因组测序可靠地检测出拷贝数变化 (CNA). 这些CNA与侵袭性疾病相关,可以帮助分层患者复发风险.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
癌症研究癌症研究

背景情况:

副本数变化 (CNAs) 在前列腺癌早期常见,并与复发和攻击性有关.
需要具有成本效益的CNA评估来提高临床效用.

研究的目的:

评估低通全基因组测序 (LPWGS) 的可行性和可靠性,用于在早期前列腺癌中检测CNA.
将CNA负担和模式与临床病理特征和生化复发 (BCR) 相关联.

主要方法:

在187名患有前列腺癌早期阶段的男性的FFPE瘤组织上进行LPWGS.
分析了CNA,并与格里森得分,病态T阶段,手术边缘和BCR无生存率相关联.
为了患者风险分层,提取了副本编号签名.

主要成果:

通过检测已知的CNA和反复发生的基因变异 (MYC,NKX3-1,PTEN,RB1) 来证实试验可靠性.
CNA负担与格里森得分,T阶段,边际状态和BCR显著相关.
特定的基因组变化和复制号签名 (S1,S2) 与较差的无BCR生存相关.

结论:

FFPE组织的LPWGS是一种可行且具有成本效益的方法,用于评估前列腺癌中CNAs.
CNAs是瘤攻击性和患者预后的重要指标.
副本编号签名显示了在前列腺癌早期阶段改善风险分层的潜力.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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