eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | down syndrome |
| Comorbidity | C0023462|megakaryoblastic leukemia |
| Sentences | 9 |
| PubMedID- 23467713 | One case of acute megakaryoblastic leukemia (amkl) with trisomy 21, trisomy 14 and unmutated gata1 gene in a phenotypically normal girl was reported. |
| PubMedID- 21779441 | Prominent examples include structural mutations in gata1 that are found in almost all megakaryoblastic leukemias in patients with down syndrome; loss of gata3 expression in aggressive, dedifferentiated breast cancers; and silencing of gata4 and gata5 expression in colorectal and lung cancers. |
| PubMedID- 23980066 | Development of acute megakaryoblastic leukemia in down syndrome is associated with sequential epigenetic changes. |
| PubMedID- 24514166 | Hspb1 also plays a role towards gata1, a transcription factor essential for erythroid differentiation, which is heavily mutated in almost all megakaryoblastic leukemias in patients with down syndrome [213]. |
| PubMedID- 25932450 | A case of pentasomy 21 with two isochromosome 21s in acute megakaryoblastic leukemia associated with down syndrome. |
| PubMedID- 25361478 | Acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype. |
| PubMedID- 25266042 | Acute megakaryoblastic leukemia with acquired trisomy 21 and gata1 mutations in phenotypically normal children. |
| PubMedID- 25302938 | Acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype. |
| PubMedID- 22937757 | In particular, the somatic mutation of the gata1 gene, which leads to the production of n-terminally truncated gata1, contributes to the genesis of transient myeloproliferative disorder and acute megakaryoblastic leukemia in infants with down syndrome. |
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