Boumeghar Kévin, Daliphard Sylvie, Buchbinder Nimrod, Boutet Catherine, Penther Dominique, Etancelin Pascaline, Bourgain Julien, Buchonnet Gérard, Bera Elsa, Bobée Victor
Rouen University Hospital, Department of Biological Hematology, Rouen 76000, France.
Rouen University Hospital, Department of Pediatric Hematology, Rouen 76000, France.
Case Rep Hematol. 2024 Oct 23;2024:9962512. doi: 10.1155/2024/9962512. eCollection 2024.
Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome (ML-DS) are two conditions that need to be accurately diagnosed to provide appropriate management. Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene. Here, we report four cases with educational significance, highlighting typical diagnostic features that facilitate the differentiation between these two conditions, thereby assisting clinicians and medical laboratory professionals in effectively managing and monitoring these patients.
唐氏综合征(DS)由额外的一条21号染色体所定义,并使患者易患血液系统疾病。唐氏综合征相关的短暂异常髓系造血(TAM)和髓系白血病(ML-DS)是两种需要准确诊断以提供恰当治疗的病症。TAM和ML-DS均以携带GATA1基因突变的巨核母细胞增殖为特征。在此,我们报告四例具有教育意义的病例,突出有助于区分这两种病症的典型诊断特征,从而协助临床医生和医学检验专业人员有效管理和监测这些患者。