{"title":"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。","authors":"Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée","doi":"10.1155/2024/9962512","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"9962512"},"PeriodicalIF":0.7000,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524717/pdf/","citationCount":"0","resultStr":"{\"title\":\"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.\",\"authors\":\"Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée\",\"doi\":\"10.1155/2024/9962512\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":\"2024 \",\"pages\":\"9962512\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-10-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524717/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2024/9962512\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/9962512","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
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.