前列腺肿瘤中的获得性拷贝数变异:对常见体细胞拷贝数改变、它们的形成方式及其临床用途的回顾。
Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility.
发表日期:2023 Nov 09
作者:
Dannielle E O'Malley, Kelsie Raspin, Phillip E Melton, Kathryn P Burdon, Joanne L Dickinson, Liesel M FitzGerald
来源:
BRITISH JOURNAL OF CANCER
摘要:
前列腺癌是男性最常诊断出的癌症之一,不幸的是,尽管进行了初步治疗,仍有多达三分之一的患者疾病仍会进展。目前,严重缺乏能够准确预测病程的预后测试;然而,获得 DNA 拷贝数变异形式的体细胞染色体变异可能有助于了解疾病进展。值得注意的是,研究发现体细胞拷贝数改变(SCNA)负担较高与更具侵袭性的疾病、术后复发和转移相关。在这里,我们将回顾有关 SCNA 形成的文献,包括关键肿瘤抑制因子和癌基因(PTEN、BRCA2、NKX3.1、ERG 和 AR)的作用,以及它们为诊断和预后临床测试提供信息以提高预测价值的潜力。最终,SCNA 或易患 SCNA 的遗传性种系改变,除了指导治疗选择外,还可以在诊断和预后测试中具有重要的临床实用性。© 2023。作者获得 Springer Nature Limited 的独家许可。
Prostate cancer is one of the most commonly diagnosed cancers in men and unfortunately, disease will progress in up to a third of patients despite primary treatment. Currently, there is a significant lack of prognostic tests that accurately predict disease course; however, the acquisition of somatic chromosomal variation in the form of DNA copy number variants may help understand disease progression. Notably, studies have found that a higher burden of somatic copy number alterations (SCNA) correlates with more aggressive disease, recurrence after surgery and metastasis. Here we will review the literature surrounding SCNA formation, including the roles of key tumour suppressors and oncogenes (PTEN, BRCA2, NKX3.1, ERG and AR), and their potential to inform diagnostic and prognostic clinical testing to improve predictive value. Ultimately, SCNAs, or inherited germline alterations that predispose to SCNAs, could have significant clinical utility in diagnostic and prognostic tests, in addition to guiding therapeutic selection.© 2023. The Author(s), under exclusive licence to Springer Nature Limited.