Table 1.
Recurrent CNAs in 300 newly diagnosed adult and pediatric CBF-AMLs
| Lesion type and cytoband | Loc. start† | Loc. end† | MDR size, Kb | No. total lesions at locus | No. t(8;21) lesions at locus | No. inv(16) lesions at locus | Gene and miRNA symbols (if < 15 or number) |
|---|---|---|---|---|---|---|---|
| del(7q36.1)* | 151 119 304 | 151 766 515 | 647 | 23 | 10 | 13 | PRKAG2, GALNTL5, GALNT11, MLL3 |
| del(7q36.1)* | 148 970 700 | 150 326 128 | 1355 | 23 | 9 | 14 | 22 genes |
| del(7q33-34)* | 136 930 471 | 139 330 291 | 2400 | 19 | 7 | 12 | 18 genes |
| gain(8q24.21) | 130 655 287 | 130 793 607 | 138 | 30 | 16 | 14 | CCDC26 |
| del(9q21.32) | 84 807 339 | 85 927 065 | 1128 | 17 | 17 | 0 | RASEF, FRMD3, C9orf103, UBQLN1, KIF27, C9orf64, HNRNPK, RMI1;hsa-mir-7-1 |
| del(10q24.32-q24.33) | 104 388 971 | 104 991 787 | 602 | 2 | 1 | 1 | TRIM8, ARL3, SFXN2, C10orf26, CYP17A1, C10orf32, AS3MT, CNNM2, NT5C2 |
| del(11p13) | 32 406 375 | 32 535 970 | 130 | 7 | 2 | 5 | WT1, WIT1 |
| gain(11q25) | 133 855 317 | 134 223 724 | 368 | 5 | 0 | 5 | LOC238177 |
| gain(13q14.1-q23.2) | 82 686 052 | 114 126 487 | 31 440 | 5 | 0 | 5 | 473 genes; 9 miRNA |
| del(16p11.2) | 29 748 299 | 30 390 041 | 642 | 3 | 0 | 3 | 33 genes |
| del(17q11.2) | 26 543 169 | 27 444 641 | 901 | 6 | 0 | 6 | NF1, OMG, EVI2B, EVI2A, RAB11FIP4, C17orf79, UTP6, SUZ12, LRRC37B, SH3GLIP1;hsa-mir-193a, hsa-mir-365-2 |
| gain(22q11.21-q13.33) | 17 410 722 | 49 581 309 | 32 171 | 20 | 0 | 20 | 795 genes; 15 miRNA |
| -X | Whole chromosome | 11 | 11 | 0 | |||
| -Y | Whole chromosome | 44 | 42 | 2 | |||
| t(8;21) and inv(16) breakpoint-associated losses | |||||||
| del(8q21.3) | 93 152,074 | 93 180 996 | 29 | 13 | 13 | 0 | RUNX1T1 |
| del(21q22.12) | 35 124,310 | 35 130 211 | 6 | 16 | 16 | 0 | RUNX1 |
| del(16p13.11) | 15 725,642 | 15 738 236 | 13 | 28 | 0 | 28 | NDE1,MYH11 |
| del(16q22.1) | 65 676,333 | 65 712 933 | 36 | 21 | 0 | 21 | CBFB, C16orf70 |
CBF-AML indicates core-binding factor acute myeloid leukemia; CNA, copy number alterations; Loc., location on chromosome; and MDR, minimally detected regions.
*
In total, 25 cases with del(7q) were identified, with large overlapping deletions in most of the cases. Three distinct critical regions were defined by cases with focal deletions.
†
hg18.