Institute of Pathology, Martin Luther University Halle-Wittenberg, 06112 Halle, Germany.
Institute of Medical Immunology, Martin Luther University Halle-Wittenberg, 06112 Halle, Germany.
Int J Mol Sci. 2020 Sep 27;21(19):7140. doi: 10.3390/ijms21197140.
Myelodysplastic syndromes (MDS), heterogeneous diseases of hematopoietic stem cells, exhibit a significant risk of progression to secondary acute myeloid leukemia (sAML) that are typically accompanied by MDS-related changes and therefore significantly differ to de novo acute myeloid leukemia (AML). Within these disorders, the spectrum of cytogenetic alterations and oncogenic mutations, the extent of a predisposing defective osteohematopoietic niche, and the irregularity of the tumor microenvironment is highly diverse. However, the exact underlying pathophysiological mechanisms resulting in hematopoietic failure in patients with MDS and sAML remain elusive. There is recent evidence that the post-transcriptional control of gene expression mediated by microRNAs (miRNAs), long noncoding RNAs, and/or RNA-binding proteins (RBPs) are key components in the pathogenic events of both diseases. In addition, an interplay between RBPs and miRNAs has been postulated in MDS and sAML. Although a plethora of miRNAs is aberrantly expressed in MDS and sAML, their expression pattern significantly depends on the cell type and on the molecular make-up of the sample, including chromosomal alterations and single nucleotide polymorphisms, which also reflects their role in disease progression and prediction. Decreased expression levels of miRNAs or RBPs preventing the maturation or inhibiting translation of genes involved in pathogenesis of both diseases were found. Therefore, this review will summarize the current knowledge regarding the heterogeneity of expression, function, and clinical relevance of miRNAs, its link to molecular abnormalities in MDS and sAML with specific focus on the interplay with RBPs, and the current treatment options. This information might improve the use of miRNAs and/or RBPs as prognostic markers and therapeutic targets for both malignancies.
骨髓增生异常综合征(MDS)是造血干细胞的异质性疾病,存在向继发性急性髓系白血病(sAML)进展的显著风险,后者通常伴有 MDS 相关改变,因此与初发性急性髓系白血病(AML)显著不同。在这些疾病中,细胞遗传学改变和致癌突变的范围、潜在的缺陷造血龛的程度以及肿瘤微环境的不规则性高度多样化。然而,导致 MDS 和 sAML 患者造血功能衰竭的确切潜在病理生理机制仍不清楚。最近有证据表明,miRNAs(microRNAs)、长非编码 RNA 和/或 RNA 结合蛋白(RBPs)介导的基因表达的转录后调控是这两种疾病发病机制的关键组成部分。此外,RBPs 和 miRNAs 之间的相互作用在 MDS 和 sAML 中也被假设存在。尽管 MDS 和 sAML 中存在大量异常表达的 miRNAs,但它们的表达模式显著依赖于细胞类型和样本的分子组成,包括染色体改变和单核苷酸多态性,这也反映了它们在疾病进展和预测中的作用。研究发现,miRNAs 或 RBPs 的表达水平降低会阻止与两种疾病发病机制相关的基因的成熟或抑制其翻译。因此,本文综述了目前关于 miRNA 的表达、功能和临床相关性的异质性、其与 MDS 和 sAML 中分子异常的关系,特别是与 RBPs 的相互作用,以及当前的治疗选择的知识。这些信息可能会提高 miRNA 和/或 RBPs 作为两种恶性肿瘤的预后标志物和治疗靶点的应用。