Leszczynska Katarzyna B, Jayaprakash Chinchu, Kaminska Bozena, Mieczkowski Jakub
Laboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
3P-Medicine Laboratory, Medical University of Gdańsk, Gdańsk, Poland.
Front Genet. 2021 Sep 27;12:742561. doi: 10.3389/fgene.2021.742561. eCollection 2021.
Somatic mutations in histone encoding genes result in gross alterations in the epigenetic landscape. Diffuse intrinsic pontine glioma (DIPG) is a pediatric high-grade glioma (pHGG) and one of the most challenging cancers to treat, with only 1% surviving for 5 years. Due to the location in the brainstem, DIPGs are difficult to resect and rapidly turn into a fatal disease. Over 80% of DIPGs confer mutations in genes coding for histone 3 variants (H3.3 or H3.1/H3.2), with lysine to methionine substitution at position 27 (H3K27M). This results in a global decrease in H3K27 trimethylation, increased H3K27 acetylation, and widespread oncogenic changes in gene expression. Epigenetic modifying drugs emerge as promising candidates to treat DIPG, with histone deacetylase (HDAC) inhibitors taking the lead in preclinical and clinical studies. However, some data show the evolving resistance of DIPGs to the most studied HDAC inhibitor panobinostat and highlight the need to further investigate its mechanism of action. A new forceful line of research explores the simultaneous use of multiple inhibitors that could target epigenetically induced changes in DIPG chromatin and enhance the anticancer response of single agents. In this review, we summarize the therapeutic approaches against H3K27M-expressing pHGGs focused on targeting epigenetic dysregulation and highlight promising combinatorial drug treatments. We assessed the effectiveness of the epigenetic drugs that are already in clinical trials in pHGGs. The constantly expanding understanding of the epigenetic vulnerabilities of H3K27M-expressing pHGGs provides new tumor-specific targets, opens new possibilities of therapy, and gives hope to find a cure for this deadly disease.
组蛋白编码基因中的体细胞突变会导致表观遗传格局的显著改变。弥漫性内在脑桥胶质瘤(DIPG)是一种儿童高级别胶质瘤(pHGG),也是最难治疗的癌症之一,只有1%的患者能存活5年。由于位于脑干,DIPG难以切除,且会迅速发展为致命疾病。超过80%的DIPG在编码组蛋白3变体(H3.3或H3.1/H3.2)的基因中发生突变,第27位赖氨酸被甲硫氨酸取代(H3K27M)。这导致H3K27三甲基化整体减少、H3K27乙酰化增加以及基因表达中广泛的致癌变化。表观遗传修饰药物成为治疗DIPG的有前景的候选药物,其中组蛋白去乙酰化酶(HDAC)抑制剂在临床前和临床研究中处于领先地位。然而,一些数据显示DIPG对研究最多的HDAC抑制剂帕比司他的耐药性在不断演变,并突出了进一步研究其作用机制的必要性。一项新的有力研究方向探索同时使用多种抑制剂,这些抑制剂可以针对DIPG染色质中表观遗传诱导的变化,增强单一药物的抗癌反应。在这篇综述中,我们总结了针对表达H3K27M的pHGG的治疗方法,重点是针对表观遗传失调,并强调了有前景的联合药物治疗。我们评估了已在pHGG临床试验中的表观遗传药物的有效性。对表达H3K27M的pHGG的表观遗传脆弱性的不断深入了解提供了新的肿瘤特异性靶点,开启了新的治疗可能性,并为治愈这种致命疾病带来了希望。