四例与唐氏综合征相关的骨髓增生性疾病:唐氏综合征与骨髓增生性疾病的鉴别:鉴别唐氏综合征与骨髓增生性疾病:四例病例的报告。

IF 0.7 Q4 HEMATOLOGY Case Reports in Hematology Pub Date : 2024-10-23 eCollection Date: 2024-01-01 DOI:10.1155/2024/9962512
Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée
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引用次数: 0

摘要

唐氏综合征(Down syndrome,DS)是由 21 号染色体的一个额外拷贝所决定的,它增加了血液病的易感性。短暂性骨髓造血异常(TAM)和唐氏综合征相关髓系白血病(ML-DS)是两种需要准确诊断以提供适当治疗的疾病。TAM和ML-DS都以携带GATA1基因突变的巨核细胞增殖为特征。在此,我们报告了四例具有教育意义的病例,强调了有助于区分这两种疾病的典型诊断特征,从而帮助临床医生和医学实验室专业人员有效地管理和监测这些患者。
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Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS: Distinguishing TAM-DS and ML-DS: Report of 4 Cases.

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.

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