Patrick G Johnston Center for Cancer Research, Queens University Belfast, 97 Lisburn Road, Belfast BT9 7AE, UK.
Int J Mol Sci. 2021 May 9;22(9):5013. doi: 10.3390/ijms22095013.
Myeloid malignancy is a broad term encapsulating myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). Initial studies into genomic profiles of these diseases have shown 2000 somatic mutations prevalent across the spectrum of myeloid blood disorders. Epigenetic mutations are emerging as critical components of disease progression, with mutations in genes controlling chromatin regulation and methylation/acetylation status. Genes such as DNA methyltransferase 3A (), ten eleven translocation methylcytosine dioxygenase 2 (), additional sex combs-like 1 (), enhancer of zeste homolog 2 () and isocitrate dehydrogenase 1/2 () show functional impact in disease pathogenesis. In this review we discuss how current knowledge relating to disease progression, mutational profile and therapeutic potential is progressing and increasing understanding of myeloid malignancies.
髓系恶性肿瘤是一个广义的术语,包括骨髓增殖性肿瘤(MPN)、骨髓增生异常综合征(MDS)和急性髓系白血病(AML)。对这些疾病基因组谱的初步研究表明,在髓系血液疾病的整个范围内存在 2000 个种系突变。表观遗传突变正在成为疾病进展的关键组成部分,控制染色质调节和甲基化/乙酰化状态的基因发生突变。在疾病发病机制中具有功能影响的基因,如 DNA 甲基转移酶 3A()、十一转移甲基胞嘧啶双加氧酶 2()、额外的性梳样 1()、EZH2()和异柠檬酸脱氢酶 1/2()。在这篇综述中,我们讨论了与疾病进展、突变谱和治疗潜力相关的现有知识是如何进展的,并增加了对髓系恶性肿瘤的理解。