Cives Mauro, Simone Valeria, Rizzo Francesca Maria, Silvestris Franco
Department of Biomedical Sciences and Human Oncology, Section of Internal Medicine and Clinical Oncology, University of Bari "Aldo Moro", Bari, Italy.
Oncotarget. 2016 Aug 30;7(35):57414-57429. doi: 10.18632/oncotarget.10598.
High-throughput next-generation sequencing methods have recently provided a detailed picture of the genetic landscape of neuroendocrine tumors (NETs), revealing recurrent mutations of chromatin-remodeling genes and little-to-no pathogenetic role for oncogenes commonly mutated in cancer. Concurrently, multiple epigenetic modifications have been described across the whole spectrum of NETs, and their putative function as tumorigenic drivers has been envisaged. As result, it is still unclear whether or not NETs are epigenetically-driven, rather than genetically-induced malignancies. Although the NET epigenome profiling has led to the identification of molecularly-distinct tumor subsets, validation studies in larger cohorts of patients are needed to translate the use of NET epitypes in clinical practice. In the precision medicine era, recognition of subpopulations of patients more likely to respond to therapeutic agents is critical, and future studies testing epigenetic biomarkers are therefore awaited. Restoration of the aberrant chromatin remodeling machinery is an attractive approach for future treatment of cancer and in several hematological malignancies a few epigenetic agents have been already approved. Although clinical outcomes of epigenetic therapies in NETs have been disappointing so far, further clinical trials are required to investigate the efficacy of these drugs. In this context, given the immune-stimulating effects of epidrugs, combination therapies with immune checkpoint inhibitors should be tested. In this review, we provide an overview of the epigenetic changes in both hereditary and sporadic NETs of the gastroenteropancreatic and bronchial tract, focusing on their diagnostic, prognostic and therapeutic implications.
高通量下一代测序方法最近提供了神经内分泌肿瘤(NETs)遗传图谱的详细情况,揭示了染色质重塑基因的复发性突变,以及在癌症中通常发生突变的癌基因几乎没有致病作用。同时,在整个NETs谱系中已经描述了多种表观遗传修饰,并设想了它们作为致瘤驱动因素的假定功能。因此,NETs究竟是由表观遗传驱动而非基因诱导的恶性肿瘤仍不清楚。尽管NETs表观基因组分析已导致鉴定出分子上不同的肿瘤亚群,但需要在更大的患者队列中进行验证研究,以将NETs表观类型应用于临床实践。在精准医学时代,识别更可能对治疗药物有反应的患者亚群至关重要,因此期待未来进行测试表观遗传生物标志物的研究。恢复异常的染色质重塑机制是未来癌症治疗的一种有吸引力的方法,在几种血液系统恶性肿瘤中,一些表观遗传药物已经获批。尽管到目前为止,NETs表观遗传疗法的临床结果令人失望,但仍需要进一步的临床试验来研究这些药物的疗效。在这种情况下,鉴于表观遗传药物的免疫刺激作用,应测试与免疫检查点抑制剂的联合疗法。在本综述中,我们概述了胃肠胰和支气管遗传性和散发性NETs中的表观遗传变化,重点关注它们的诊断、预后和治疗意义。