Table 1.
Overview about all investigated direct KMT2A fusion genes or KMT2A deviations.
| # | direct TPG | Infant | Pediatric | Adult | not age classifed | Total | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALL | AML | other | ALL | AML | other | ALL | AML | other | ALL | AML | other | |||
| 1 | AFF1 | 477 | 3 | 12 | 215 | 1 | 6 | 535 | 5 | 0 | 6 | 0 | 2 | 1262 |
| 2 | MLLT3 | 157 | 56 | 5 | 91 | 170 | 3 | 8 | 108 | 3 | 2 | 5 | 4 | 612 |
| 3 | MLLT1 | 234 | 2 | 6 | 100 | 28 | 1 | 66 | 16 | 2 | 4 | 1 | 0 | 460 |
| 4 | MLLT10 | 59 | 54 | 8 | 17 | 109 | 4 | 3 | 44 | 2 | 1 | 2 | 1 | 304 |
| 5 | AFDN | 3 | 3 | 0 | 31 | 42 | 0 | 10 | 45 | 1 | 2 | 1 | 0 | 138 |
| 6 | KMT2A-PTD | 0 | 0 | 0 | 0 | 7 | 0 | 1 | 113 | 6 | 0 | 0 | 0 | 127 |
| 7 | ELL | 0 | 30 | 1 | 0 | 32 | 1 | 1 | 51 | 3 | 0 | 0 | 0 | 119 |
| 8 | EPS15 | 22 | 2 | 3 | 8 | 5 | 0 | 4 | 7 | 1 | 2 | 1 | 0 | 55 |
| 9 | USP2 | 3 | 0 | 4 | 17 | 1 | 4 | 1 | 0 | 0 | 0 | 0 | 0 | 30 |
| 10 | MLLT11 | 1 | 13 | 0 | 0 | 10 | 0 | 0 | 4 | 0 | 0 | 0 | 0 | 28 |
| 11 | MLLT6 | 5 | 0 | 0 | 3 | 5 | 0 | 0 | 12 | 0 | 0 | 1 | 1 | 27 |
| 12 | SEPTIN6 | 0 | 7 | 0 | 0 | 10 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 19 |
| 13 | SEPTIN9 | 0 | 2 | 0 | 0 | 6 | 0 | 0 | 6 | 0 | 0 | 0 | 0 | 14 |
| 14 | AFF3 | 4 | 0 | 0 | 7 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 11 |
| 15 | CBL | 0 | 0 | 0 | 7 | 0 | 0 | 1 | 1 | 1 | 0 | 0 | 0 | 10 |
| 16 | SEPTIN5 | 0 | 2 | 0 | 1 | 3 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 8 |
| 17 | ABI1 | 0 | 3 | 0 | 0 | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 |
| 18 | CREBBP | 0 | 0 | 0 | 1 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | 1 | 6 |
| 19 | KNL1 | 0 | 0 | 0 | 1 | 3 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 6 |
| 20 | TET1 | 0 | 0 | 0 | 0 | 1 | 0 | 2 | 3 | 0 | 0 | 0 | 0 | 6 |
| 21 | TNRC18 | 1 | 0 | 0 | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 6 |
| 22 | MYO1F | 0 | 4 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 5 |
| 23 | MAML2 | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 4 |
| 24 | PICALM | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 4 |
| 25 | FLNA | 0 | 2 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 |
| 26 | ARHGEF12 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 3 |
| 27 | CLTC | 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| 28 | GAS7 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 3 |
| 29 | NEBL | 0 | 1 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| 30 | PRPF19 | 1 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| 31 | SEPTIN11 | 0 | 0 | 0 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 3 |
| 32 | USP8 | 0 | 0 | 0 | 2 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| 33 | ACTN4 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 2 |
| 34 | AFF4 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 35 | BTBD18 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 36 | CEP170B | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| 37 | CIP2A | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 38 | DCP1A | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 39 | FOXO3 | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 40 | ABI2 | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 41 | ACACA | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 42 | ACNT2 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 43 | AKAP13 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 44 | ARHGAP26 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 45 | ARHGEF17 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 46 | BCAS4 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 47 | C2CD3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 48 | CASP8AP2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 49 | CLIP2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 50 | CLTA | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 51 | CT45S2 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 52 | DCPS | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 53 | FAM13A | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 54 | FNBP1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 55 | GIGYF2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 56 | GMPS | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 57 | ITSN1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 58 | KIF2A | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 59 | LAMC3 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 60 | LASP1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 61 | MATR3 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 62 | ME2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 63 | MRTFA | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 64 | MYH11 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 65 | NRIP3 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 66 | PDS5A | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 67 | PFDN4 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 68 | PRRC1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 69 | RABGAP1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 70 | RANBP3 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 71 | RUNDC3B | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 72 | SEPTIN2 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 73 | SEPTIN3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 74 | SMAP1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 75 | SNX9 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 76 | STK4 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 77 | TCF12 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 78 | TOP3A | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 79 | VAV1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 80 | AP2A2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 81 | ARHGAP32 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 82 | BCL9L | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 83 | BUD13 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 84 | CEP164 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 85 | DAPK1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| 86 | DDX6 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 87 | EEFSEC | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 88 | LOC100131626 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 89 | MGMT | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 90 | MIDN | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 91 | NOX4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 92 | NUP153 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 93 | OPCML | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 94 | RANBP3-DT | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| 95 | no der(11) / CPX | 5 | 3 | 1 | 0 | 3 | 0 | 0 | 1 | 0 | 1 | 0 | 2 | 16 |
| 96 | der(11) / no TPG | 3 | 1 | 0 | 3 | 2 | 1 | 4 | 2 | 2 | 0 | 0 | 0 | 18 |
| 97 | 5’-KMT2A del | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
| 98 | RUNX1-ETV6 integr. | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| SUM | 987 | 197 | 40 | 530 | 465 | 26 | 647 | 441 | 25 | 18 | 13 | 12 | 3401 | |
All fusion genes that have been analyzed at the DCAL and their distribution between infant, pediatric and adult leukemia patients is shown. Total numbers are given for each patient group separated in ALL, AML and other (diseases). The 11 most frequent direct TPGs and KMT2A-PTDs were separated from other 29 fusion genes that were recurrently diagnosed. Additional 54 TPGs were identified so far only once, of which 15 were out-of-frame fusions (marked in bold). We also identified 16 KMT2A rearrangements with no direct KMT2A fusion gene, but in some cases with a reciprocal KMT2A fusion (#95), and additional 18 patients had no partner gene fused to 5’-KMT2A (#96). Two cases were identified with a deletion of 5’-KMT2A (#97), and one patient had an ETV6-RUNX1 fusion gene with a KMT2A insertion at the breakpoint (#98).