Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS
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 appr...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2024/9962512 |
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| author | Kévin Boumeghar Sylvie Daliphard Nimrod Buchbinder Catherine Boutet Dominique Penther Pascaline Etancelin Julien Bourgain Gérard Buchonnet Elsa Bera Victor Bobée |
| author_facet | Kévin Boumeghar Sylvie Daliphard Nimrod Buchbinder Catherine Boutet Dominique Penther Pascaline Etancelin Julien Bourgain Gérard Buchonnet Elsa Bera Victor Bobée |
| author_sort | Kévin Boumeghar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7164a21aa41b46168aed6a5b1a96e877 |
| institution | Kabale University |
| issn | 2090-6579 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-7164a21aa41b46168aed6a5b1a96e8772025-02-03T06:02:40ZengWileyCase Reports in Hematology2090-65792024-01-01202410.1155/2024/9962512Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DSKévin Boumeghar0Sylvie Daliphard1Nimrod Buchbinder2Catherine Boutet3Dominique Penther4Pascaline Etancelin5Julien Bourgain6Gérard Buchonnet7Elsa Bera8Victor Bobée9Rouen University HospitalRouen University HospitalRouen University HospitalRouen University HospitalCentre Henri BecquerelCentre Henri BecquerelRouen University HospitalRouen University HospitalRouen University HospitalRouen University HospitalDown 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.http://dx.doi.org/10.1155/2024/9962512 |
| spellingShingle | Kévin Boumeghar Sylvie Daliphard Nimrod Buchbinder Catherine Boutet Dominique Penther Pascaline Etancelin Julien Bourgain Gérard Buchonnet Elsa Bera Victor Bobée Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS Case Reports in Hematology |
| title | Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS |
| title_full | Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS |
| title_fullStr | Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS |
| title_full_unstemmed | Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS |
| title_short | Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS |
| title_sort | four cases of myeloproliferative disorders associated with down syndrome distinguishing ml ds from tam ds |
| url | http://dx.doi.org/10.1155/2024/9962512 |
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