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Abstract：
GATA2 deficiency is one of the most common genetic predispositions to pediatric myelodysplastic syndrome (MDS) in children and adolescents. The wide spectrum of disease comprises, among others, hematological, immunological and pulmonary manifestations, as well as occasionally distinct organ anomalies. Due to the elevated risk of progression, nearly all individuals with GATA2-related MDS eventually undergo a hematopoietic stem cell transplantation (HSCT) at some point in their lives. Nevertheless, the optimal timing, method, and even the indication for HSCT in certain cases are still matter of debate and warrant further research. In this article, we report five patients with different hematological and immunological manifestations of GATA2 deficiency ranging from immunodeficiency and refractory cytopenia of childhood without chromosomal aberrations to relapsed MDS-related acute myeloid leukemia. We discuss the adopted strategies, including intensity of surveillance, indication and timing of HSCT, based on morphological, clinical and molecular markers, as well as individual patient needs. We conclude that a better characterization of the natural disease course, a better understanding of the prognostic significance of somatic aberrations and a thorough evaluation of patients´ perspectives and preferences are required to achieve a personalized approach aimed at improving the care of these patients.
摘要：
GATA2缺乏症是儿童和青少年儿童骨髓增生异常综合征（MDS）最常见的遗传易感性之一。广泛的疾病包括，其中,血液学,免疫和肺部表现，以及偶尔明显的器官异常。由于进展风险升高，几乎所有GATA2相关MDS患者最终都在其生命中的某个阶段接受了造血干细胞移植(HSCT).然而，最佳时机，方法，甚至在某些情况下HSCT的适应症仍存在争议，需要进一步研究。在这篇文章中,我们报告了5例GATA2缺乏的血液学和免疫学表现不同的患者,从无染色体畸变的儿童免疫缺陷和难治性血细胞减少到复发性MDS相关急性髓细胞性白血病.我们讨论采用的策略，包括监视的强度,HSCT的指示和定时，基于形态学，临床和分子标志物，以及患者的个人需求。我们得出的结论是，更好地表征自然疾病的病程，为了实现旨在改善这些患者护理的个性化方法，需要更好地理解躯体畸变的预后意义，并全面评估患者的观点和偏好。
