High incidence of GATA-1 mutations in TMD and AMKL in Down syndrome
Disease . | No. of patients . | No. of mutations . |
|---|---|---|
| TMD | 22 | 21 |
| DS-MDS | 5 | 2 |
| DS-AMKL | 18 | 12 |
| DS-AUL | 1 | 1 |
| DS-AML, non-AMKL | 2 | 0 |
| AMKL, non-Down | 4 | 0 |
Disease . | No. of patients . | No. of mutations . |
|---|---|---|
| TMD | 22 | 21 |
| DS-MDS | 5 | 2 |
| DS-AMKL | 18 | 12 |
| DS-AUL | 1 | 1 |
| DS-AML, non-AMKL | 2 | 0 |
| AMKL, non-Down | 4 | 0 |
We used CSGE analysis to screen cDNA or genomic DNA from Down syndrome patients with hematologic disorders, for mutation of the GATA-1 gene.
TMD indicates transient myelodysplastic disorder in Down syndrome; DS-MDS, Down syndrome—related myelodysplastic syndrome; DS-AMKL, Down syndrome—related acute megakaryocytic leukemia; DS-AUL, Down syndrome—related acute undifferentiated leukemia; and DS-AML (non-AMKL), Down syndrome—related acute myelogenous leukemia (French-American-British [FAB] classification, M2).