Department of Pediatric Hematology-Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Pediatr Blood Cancer. 2010 Jul 1;54(7):1048-9. doi: 10.1002/pbc.22331.
Children with Down syndrome (DS) have a unique form of acute megakaryocytic leukemia (AMKL) characterized by the presence of mutations in the GATA1 gene leading to increased chemosensitivity and a favorable outcome. We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene. The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later. This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.
唐氏综合征（Down syndrome，DS）患儿具有独特形式的急性巨核细胞白血病（acute megakaryocytic leukemia，AMKL），其特征为 GATA1 基因突变，导致化疗敏感性增加和预后良好。我们描述了 1 例 8 月龄男性 DS 患儿，患有 AMKL，但 GATA1 基因无突变。该患儿根据 DS-AML 方案治疗，但疾病进展，9 个月后死亡。该例罕见的 DS AMKL 患儿无 GATA1 突变且预后不良，表明 GATA1 检测可能在初始分层中发挥有用作用。
