Zamora Diana I, Patel Gautami S, Grossmann Idan, Rodriguez Kevin, Soni Mridul, Joshi Pranay K, Patel Saawan C, Shreya Devarashetty, Sange Ibrahim
General Medicine, Universidad de Ciencias Médicas, San José, CRI.
Internal Medicine, Pramukhswami Medical College, Karamsad, IND.
Cureus. 2021 Dec 2;13(12):e20116. doi: 10.7759/cureus.20116. eCollection 2021 Dec.
Myelodysplastic syndromes (MDS) represent a large group of rare and diverse clonal stem cell disorders. These are classified into several different phenotypes and typically arise following a multistep genetic process, whereby genetic mutations alter the DNA damage and cellular stress responses, impacting transcription, RNA splicing, epigenetics, and cytokine signaling. However, despite the advances made regarding molecular pathophysiology and prognostic criteria and the influx of new treatment modalities, management is primarily based on prognostic scores, such as the Revised International Prognostic Scoring System. This poses a significant challenge to current healthcare professionals due to poor comprehension of the underlying pathophysiology. Hence, this review integrates the latest research and treatment modalities for MDS and discusses the different genetic mutations outlined in the revised World Health Organization 2016 MDS classification system and the associated treatment modalities. Additionally, future directions of research and clinical management of MDS are discussed.
骨髓增生异常综合征（MDS）是一大类罕见且多样的克隆性干细胞疾病。这些疾病被分为几种不同的表型，通常在一个多步骤的遗传过程之后出现，在此过程中，基因突变会改变DNA损伤和细胞应激反应，影响转录、RNA剪接、表观遗传学和细胞因子信号传导。然而，尽管在分子病理生理学和预后标准方面取得了进展，并且新的治疗方式不断涌现，但治疗主要基于预后评分，如修订后的国际预后评分系统。由于对潜在病理生理学的理解不足，这给当前的医疗保健专业人员带来了重大挑战。因此，本综述整合了MDS的最新研究和治疗方式，并讨论了2016年修订的世界卫生组织MDS分类系统中概述的不同基因突变以及相关的治疗方式。此外，还讨论了MDS研究和临床管理的未来方向。
