Borjas-Gutiérrez César, Domínguez-Cruz Martín Daniel, González-García Juan Ramón
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Rev Med Inst Mex Seguro Soc. 2017 Jul-Aug;55(4):481-489.
Myelodysplastic syndromes (MDS) are a group of disorders of the hematopoietic stem cell. They are characterized by cytopenia(s), dysplasia of one or more cell lines, ineffective hematopoiesis, and an increased risk for developing acute myelogenous leukemia. The classification of MDS has been complicated due to the great heterogeneity in clinical phenotype as well as in the morphological and cytogenetic characteristics. The prognostic value of cytogenetic abnormalities in MDS has been analyzed in multicenter studies. This approach raised the development of the revised International Prognostic Scoring System (IPSS-R), which analyzes five prognostic variables, among which the cytogenetic study stands out. According to the cytogenetic findings, a classification of MDS in five subgroups was developed. Knowledge of the cytogenetic abnormalities has led to the study of genes involved in various chromosomal rearrangements. Moreover, DNA sequencing has helped to identify mutations in approximately 50 genes related to signal transduction, DNA methylation, transcriptional regulation, and RNA splicing. Therefore, the cytogenetic study should be used to improve the classification and therapeutic management of MDS. This approach will be an essential tool for the development of targeted therapy protocols.
骨髓增生异常综合征（MDS）是一组造血干细胞疾病。其特征为血细胞减少、一种或多种细胞系发育异常、无效造血以及发生急性髓系白血病的风险增加。由于临床表型以及形态学和细胞遗传学特征存在很大异质性，MDS的分类一直很复杂。多中心研究分析了MDS中细胞遗传学异常的预后价值。这种方法推动了修订后的国际预后评分系统（IPSS-R）的发展，该系统分析五个预后变量，其中细胞遗传学研究最为突出。根据细胞遗传学结果，将MDS分为五个亚组。对细胞遗传学异常的了解促使人们对参与各种染色体重排的基因进行研究。此外，DNA测序有助于识别约50个与信号转导、DNA甲基化、转录调控和RNA剪接相关的基因中的突变。因此，细胞遗传学研究应用于改善MDS的分类和治疗管理。这种方法将成为制定靶向治疗方案的重要工具。
