Santiago Marta, Liquori Alessandro, Such Esperanza, Zúñiga Ángel, Cervera José
Hematology Department, Hospital La Fe, 46026 Valencia, Spain.
Hematology Research Group, Instituto de Investigación Sanitaria La Fe, 46026 Valencia, Spain.
Cancers (Basel). 2023 Mar 3;15(5):1590. doi: 10.3390/cancers15051590.
Hereditary myeloid malignancy syndromes (HMMSs) are rare but are becoming increasingly significant in clinical practice. One of the most well-known syndromes within this group is GATA2 deficiency. The gene encodes a zinc finger transcription factor essential for normal hematopoiesis. Insufficient expression and function of this gene as a result of germinal mutations underlie distinct clinical presentations, including childhood myelodysplastic syndrome and acute myeloid leukemia, in which the acquisition of additional molecular somatic abnormalities can lead to variable outcomes. The only curative treatment for this syndrome is allogeneic hematopoietic stem cell transplantation, which should be performed before irreversible organ damage happens. In this review, we will examine the structural characteristics of the gene, its physiological and pathological functions, how genetic mutations contribute to myeloid neoplasms, and other potential clinical manifestations. Finally, we will provide an overview of current therapeutic options, including recent transplantation strategies.
遗传性髓系恶性肿瘤综合征（HMMSs）较为罕见，但在临床实践中的重要性日益凸显。该组中最著名的综合征之一是GATA2缺陷。该基因编码一种对正常造血至关重要的锌指转录因子。由于生殖细胞突变导致该基因表达和功能不足是不同临床表现的基础，包括儿童骨髓增生异常综合征和急性髓系白血病，其中获得额外的分子体细胞异常可导致不同的结果。该综合征唯一的治愈性治疗方法是异基因造血干细胞移植，应在不可逆转的器官损伤发生之前进行。在本综述中，我们将研究该基因的结构特征、其生理和病理功能、基因突变如何导致髓系肿瘤以及其他潜在的临床表现。最后，我们将概述当前的治疗选择，包括最近的移植策略。
