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从拉丁美洲视角看骨髓增生异常综合征的遗传学进展

Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.

作者信息

Basquiera Ana Lisa, Andreoli Verónica, Grille Sofía, Belli Carolina Bárbara

机构信息

Hospital Privado Universitario de Córdoba, Instituto Universitario de Ciencias Biomédicas de Córdoba (IUCBC), X5016 Córdoba, Argentina.

Unidad Académica de Hematología, Hospital de Clínicas, Universidad de la República, 11300 Montevideo, Uruguay.

出版信息

Genes (Basel). 2025 Jun 2;16(6):687. doi: 10.3390/genes16060687.

Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous group of hematological malignancies characterized by ineffective hematopoiesis, resulting in cytopenias, morphologic dysplasia in hematopoietic lineages, and a variable risk of progression to acute myeloid leukemia. Significant advances in the understanding of MDS have been made in recent years, largely due to the implementation of molecular tools. Latin America is a highly diverse region, both ethnically and racially, and often faces resource limitations that challenge the broad applicability of recent advances in MDS. In this review, we discuss the key genes implicated in the pathogenesis and classification of MDS, and their relevance to diagnosis, prognosis, and potential therapeutic targets. We also explore the challenges associated with the identification of germline predisposition to MDS in Latin America and discuss the current availability and limitations of molecular diagnostic tools in the region.

摘要

骨髓增生异常综合征(MDS)是一组异质性血液系统恶性肿瘤,其特征为造血无效,导致血细胞减少、造血谱系形态发育异常,以及进展为急性髓系白血病的风险各异。近年来,对MDS的认识取得了重大进展,这在很大程度上归功于分子工具的应用。拉丁美洲是一个种族和民族高度多样化的地区,并且经常面临资源限制,这对MDS近期进展的广泛应用构成了挑战。在本综述中,我们讨论了与MDS发病机制和分类相关的关键基因,以及它们与诊断、预后和潜在治疗靶点的相关性。我们还探讨了拉丁美洲在鉴定MDS种系易感性方面面临的挑战,并讨论了该地区目前分子诊断工具的可用性和局限性。

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