UNIVERSITY OF CALIFORNIA, SAN FRANCISCO.
Blood. 2016 Mar 17;127(11):1377-8. doi: 10.1182/blood-2016-01-690016.
In this issue of Blood, Wlodarski and colleagues demonstrate that as many as 72% of adolescents diagnosed with myelodysplastic syndrome (MDS) and monosomy 7 harbor germline mutations in GATA2. Although pediatric MDS is a very rare diagnosis, occurring in 0.8 to 4 cases per million, Wlodarski et al screened >600 cases of primary or secondary MDS in children and adolescents who were enrolled in the European Working Group on MDS consortium over a period of 15 years. The overall frequency of germline GATA2 mutations in children with primary MDS was 7%, and 15% in those presenting with advanced disease. Notably, mutations in GATA2 were absent in patients with therapy-related MDS or acquired aplastic anemia.
在本期《Blood》中，Wlodarski 及其同事证实，多达 72%的诊断为骨髓增生异常综合征 (MDS) 和单体 7 的青少年携带有 GATA2 的种系突变。尽管儿科 MDS 的诊断非常罕见，每百万人口中仅发生 0.8 至 4 例，但 Wlodarski 等人在 15 年内对参加欧洲 MDS 联合会的 600 多例儿童和青少年原发性或继发性 MDS 病例进行了筛查。原发性 MDS 患儿的种系 GATA2 突变总体频率为 7%，晚期疾病患儿为 15%。值得注意的是，治疗相关 MDS 或获得性再生障碍性贫血患者中不存在 GATA2 突变。
