Beksac Meral, Balli Sevinc, Akcora Yildiz Dilara
Department of Hematology, School of Medicine, Ankara University, Ankara, Turkey.
Kars Selim Public Hospital, Internal Medicine, Kars, Turkey.
Front Genet. 2020 Apr 9;11:228. doi: 10.3389/fgene.2020.00228. eCollection 2020.
Genomic instability can be observed at both chromosomal and chromatin levels. Instability at the macro level includes centrosome abnormalities (CA) resulting in numerical as well as structural chromosomal changes, whereas instability at the micro level is characterized by defects in DNA repair pathways resulting in microsatellite instability (MIN) or mutations. Genomic instability occurs during carcinogenesis without impairing survival and growth, though the precise mechanisms remain unclear. Solid tumors arising from most cells of epithelial origin are characterized by genomic instability which renders them resistant to chemotherapy and radiotherapy. This instability is also observed in 25% of myeloma patients and has been shown to be highly prognostic, independently of the international staging system (ISS). However, a biomarker of aberrant DNA repair and loss of heterozygosity (LOH), was only observed at a frequency of 5% in newly diagnosed patients. Several new molecules targeting the pathways involved in genomic instability are under development and some have already entered clinical trials. Poly(ADP-ribose) polymerase-1 (PARP) inhibitors have been FDA-approved for the treatment of breast cancer type 1 susceptibility protein (BRCA1)-mutated metastatic breast cancer, as well as ovarian and lung cancer. Topoisomerase inhibitors and epigenetic histone modification-targeting inhibitors, such as HDAC (Histone Deacetylase) inhibitors which are novel agents that can target genomic instability. Several of the small molecule inhibitors targeting chromosomal level instability such as PARP, Akt, Aurora kinase, cyclin dependent kinase or spindle kinase inhibitors have been tested in mouse models and early phase I/II trials. ATM, ATR kinase inhibitors and DNA helicase inhibitors are also promising novel agents. However, most of these drugs are not effective as single agents but appear to act synergistically with DNA damaging agents such as radiotherapy, platinum derivatives, immunomodulators, and proteasome inhibitors. In this review, new drugs targeting genomic instability and their mechanisms of action will be discussed.
基因组不稳定可在染色体和染色质水平上观察到。宏观水平的不稳定包括中心体异常(CA),可导致染色体数量和结构变化,而微观水平的不稳定则表现为DNA修复途径缺陷,导致微卫星不稳定(MIN)或突变。基因组不稳定在致癌过程中发生,尽管确切机制尚不清楚,但并不损害细胞存活和生长。大多数上皮来源细胞产生的实体瘤具有基因组不稳定的特征,这使得它们对化疗和放疗具有抗性。这种不稳定在25%的骨髓瘤患者中也有观察到,并且已被证明具有高度预后价值,独立于国际分期系统(ISS)。然而,一种异常DNA修复和杂合性缺失(LOH)的生物标志物在新诊断患者中的出现频率仅为5%。几种针对基因组不稳定相关途径的新分子正在研发中,有些已经进入临床试验。聚(ADP - 核糖)聚合酶 - 1(PARP)抑制剂已获得美国食品药品监督管理局(FDA)批准,用于治疗1型乳腺癌易感蛋白(BRCA1)突变的转移性乳腺癌以及卵巢癌和肺癌。拓扑异构酶抑制剂和靶向表观遗传组蛋白修饰的抑制剂,如组蛋白去乙酰化酶(HDAC)抑制剂,是能够靶向基因组不稳定的新型药物。几种靶向染色体水平不稳定的小分子抑制剂,如PARP、Akt、极光激酶、细胞周期蛋白依赖性激酶或纺锤体激酶抑制剂,已在小鼠模型和早期I/II期试验中进行了测试。ATM、ATR激酶抑制剂和DNA解旋酶抑制剂也是有前景的新型药物。然而,这些药物大多作为单一药物无效,但似乎与放疗、铂类衍生物、免疫调节剂和蛋白酶体抑制剂等DNA损伤剂协同作用。在本综述中,将讨论靶向基因组不稳定的新药及其作用机制。