Summary of the genetic abnormalities identified in Down syndrome–associated leukemia
| Type of leukemia/genetic abnormalities . | Reported cases . | References . |
|---|---|---|
| DS-ALL | ||
| Chromosomal | ||
| t(12;21)(p13;q22) | 17/322 | 24,25,44,–46,49,99,100 |
| t(8;14)(q11;q32) | 4/209 | 44,–46,49 |
| del(9p) | 15/186 | 44,46,49 |
| add(X) | 80/238 | 2,44,–46,49 |
| Intragenic | ||
| JAK2 (ΔIREED, R683S, R683G, R683K) | 28/130 | 46,48,49 |
| PTPN11 (E76K) | 1/10 | 46,47 |
| RAS (G12D) | 1/10 | 46,47 |
| TMD | ||
| Intragenic | ||
| GATA1 | 73/75 | 7,,–10,41,43,102 |
| JAK3 | 5/40 | 37,41,–43,102,104 |
| TP53 | 1/13 | 38,39,41 |
| DS-AMKL | ||
| Chromosomal | ||
| Trisomy 8 | 6/34 | 45,82,103 |
| Monosomy 7/complete or partial del(7q) | 7/34 | 45,82,103 |
| Intragenic | ||
| GATA1 | 58/65 | 8,–10,41,101,102 |
| JAK3 | 7/53 | 37,40,–42,102,104 |
| FLT3 | 2/35 | 37,40,41,104 |
| TP53 | 6/28 | 38,39,41 |
| JAK2 | 2/32 | 37,102,104 |
| Type of leukemia/genetic abnormalities . | Reported cases . | References . |
|---|---|---|
| DS-ALL | ||
| Chromosomal | ||
| t(12;21)(p13;q22) | 17/322 | 24,25,44,–46,49,99,100 |
| t(8;14)(q11;q32) | 4/209 | 44,–46,49 |
| del(9p) | 15/186 | 44,46,49 |
| add(X) | 80/238 | 2,44,–46,49 |
| Intragenic | ||
| JAK2 (ΔIREED, R683S, R683G, R683K) | 28/130 | 46,48,49 |
| PTPN11 (E76K) | 1/10 | 46,47 |
| RAS (G12D) | 1/10 | 46,47 |
| TMD | ||
| Intragenic | ||
| GATA1 | 73/75 | 7,,–10,41,43,102 |
| JAK3 | 5/40 | 37,41,–43,102,104 |
| TP53 | 1/13 | 38,39,41 |
| DS-AMKL | ||
| Chromosomal | ||
| Trisomy 8 | 6/34 | 45,82,103 |
| Monosomy 7/complete or partial del(7q) | 7/34 | 45,82,103 |
| Intragenic | ||
| GATA1 | 58/65 | 8,–10,41,101,102 |
| JAK3 | 7/53 | 37,40,–42,102,104 |
| FLT3 | 2/35 | 37,40,41,104 |
| TP53 | 6/28 | 38,39,41 |
| JAK2 | 2/32 | 37,102,104 |
DS indicates Down syndrome; ALL, acute lymphoid leukemia; TMD, transient myeloproliferative disease; and AMKL, acute megakaryocytic leukemia.