Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia.
Children with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutati...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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2011
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| _version_ | 1826273142287368192 |
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| author | Alford, K Reinhardt, K Garnett, C Norton, A Böhmer, K von Neuhoff, C Kolenova, A Marchi, E Klusmann, J Roberts, I Hasle, H Reinhardt, D Vyas, P |
| author_facet | Alford, K Reinhardt, K Garnett, C Norton, A Böhmer, K von Neuhoff, C Kolenova, A Marchi, E Klusmann, J Roberts, I Hasle, H Reinhardt, D Vyas, P |
| author_sort | Alford, K |
| collection | OXFORD |
| description | Children with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutation in the hematopoietic transcription factor GATA1 is present in almost all cases. Here, we show that simple techniques detect GATA1 mutations in the largest series of TMD (n = 134; 88%) and ML-DS (n = 103; 85%) cases tested. Furthermore, no significant difference in the mutational spectrum between the 2 disorders was seen. Thus, the type of GATA1 sequence mutation is not a reliable tool and is not prognostic of which patients with TMD are probable to develop ML-DS. |
| first_indexed | 2024-03-06T22:23:41Z |
| format | Journal article |
| id | oxford-uuid:55ed8ae9-ac57-4cc7-afd9-6e83d35ad7f8 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T22:23:41Z |
| publishDate | 2011 |
| record_format | dspace |
| spelling | oxford-uuid:55ed8ae9-ac57-4cc7-afd9-6e83d35ad7f82022-03-26T16:47:13ZAnalysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:55ed8ae9-ac57-4cc7-afd9-6e83d35ad7f8EnglishSymplectic Elements at Oxford2011Alford, KReinhardt, KGarnett, CNorton, ABöhmer, Kvon Neuhoff, CKolenova, AMarchi, EKlusmann, JRoberts, IHasle, HReinhardt, DVyas, PChildren with Down syndrome (DS) up to the age of 4 years are at a 150-fold excess risk of developing myeloid leukemia (ML-DS). Approximately 4%-5% of newborns with DS develop transient myeloproliferative disorder (TMD). Blast cell structure and immunophenotype are similar in TMD and ML-DS. A mutation in the hematopoietic transcription factor GATA1 is present in almost all cases. Here, we show that simple techniques detect GATA1 mutations in the largest series of TMD (n = 134; 88%) and ML-DS (n = 103; 85%) cases tested. Furthermore, no significant difference in the mutational spectrum between the 2 disorders was seen. Thus, the type of GATA1 sequence mutation is not a reliable tool and is not prognostic of which patients with TMD are probable to develop ML-DS. |
| spellingShingle | Alford, K Reinhardt, K Garnett, C Norton, A Böhmer, K von Neuhoff, C Kolenova, A Marchi, E Klusmann, J Roberts, I Hasle, H Reinhardt, D Vyas, P Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. |
| title | Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. |
| title_full | Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. |
| title_fullStr | Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. |
| title_full_unstemmed | Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. |
| title_short | Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. |
| title_sort | analysis of gata1 mutations in down syndrome transient myeloproliferative disorder and myeloid leukemia |
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