Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Department of Tumor Pathology, Gifu University Graduate School of Medicine, Gifu, Japan.
Hematology. 2023 Dec;28(1):2240135. doi: 10.1080/16078454.2023.2240135.
Transient abnormal myelopoiesis (TAM) is characterized by leukocytosis with increased circulating megakaryoblasts that harbor N-terminal truncating mutations in the GATA1 gene. Approximately 10% of affected patients experience early death.
A 2-month-old boy with Down syndrome was diagnosed with TAM and followed without treatment. Although the blasts in the peripheral blood disappeared, liver failure progressed. A pathological examination revealed liver fibrosis, and double-immunostaining for full-length GATA1 and CD42b identified megakaryocytes with a GATA1 mutation.
This simple and cost-effective method can be applied in routine practice to detect TAM blasts during assessment in a TAM crisis.
一过性髓系增生异常（TAM）的特征是白细胞增多，循环中出现大量巨核母细胞，这些细胞携带 GATA1 基因 N 端截断突变。约 10%的受影响患者会早期死亡。
一名患有唐氏综合征的 2 个月大男婴被诊断为 TAM，未接受治疗。尽管外周血中的原始细胞消失，但肝功能衰竭仍在进展。病理检查显示肝纤维化，全长 GATA1 和 CD42b 的双重免疫染色鉴定出携带有 GATA1 突变的巨核细胞。
这种简单且经济有效的方法可应用于常规实践中，在 TAM 危象评估期间检测 TAM 原始细胞。
