Summary of gene fusion characteristics detected in AML and MDS
| . | AML (n = 572) . | MDS (n = 630) . |
|---|---|---|
| Total no. of fusions | 274 (131 unique gene fusions) | 16 (15 unique gene fusions) |
| No. of patients with fusion, n/N (%) | 210/572 (37) | 16/630 (3) |
| Validation method, n (%) | ||
| WGS only | 32 (12) | 5 (31) |
| Cytogenetics only | 7 (2) | 1 (6) |
| Both | 235 (86) | 10 (63) |
| Number of fusions, n (%) | ||
| 1 | 170 (81) | 16/16 (100) |
| 2 | 26 (12) | — |
| 3 | 11 (5) | — |
| 4 | 1 (0.6) | — |
| 5 | 1 (0.6) | — |
| 10 | 1 (0.6) | — |
| Chromosomal fusion type, n (%) | ||
| Intra-chromosomal | 114 (42) | 12 (75) |
| Inter-chromosomal | 160 (58) | 4 (25) |
| Type of rearrangement, n (%) | ||
| Entity-defining | 141 (51) | — |
| Previously described | 21 (8) | 2 (13) |
| Novel | 112 (41) | 14 (87) |
| Fusion type, n (%) | ||
| In frame | 191/274 (70) | 5/16 (31) |
| Out of frame (premature stop codon) | 52/274 (19) | 7/16 (44) |
| Other (intronic or breakpoint at UTR) | 31/274 (11) | 4/16 (25) |
| Total no. of novel fusions | 112/274 (41) | 14/16 (88) |
| Validation method, n (%) | ||
| WGS only | 31 (28) | 5 (36) |
| Cytogenetics only | 7 (6) | 1 (7) |
| Both | 74 (66) | 8 (57) |
| Chromosomal fusion type, n (%) | ||
| Intra-chromosomal | 65 (58) | 12 (86) |
| Inter-chromosomal | 47 (42) | 2 (14) |
| Fusion type, n (%) | ||
| In frame | 34 (30) | 5 (36) |
| Out of frame (premature stop codon) | 49 (43) | 7 (50) |
| Other (intronic or breakpoint at UTR) | 29 (27) | 2 (14) |
| Novel fusions, n (%) | ||
| Both fusion partners not reported before in hematological malignancies | 79 (70) | 11 (79) |
| Novel fusion partner of a gene previously reported in hematological malignancies | 33 (30) | 3 (21) |
| . | AML (n = 572) . | MDS (n = 630) . |
|---|---|---|
| Total no. of fusions | 274 (131 unique gene fusions) | 16 (15 unique gene fusions) |
| No. of patients with fusion, n/N (%) | 210/572 (37) | 16/630 (3) |
| Validation method, n (%) | ||
| WGS only | 32 (12) | 5 (31) |
| Cytogenetics only | 7 (2) | 1 (6) |
| Both | 235 (86) | 10 (63) |
| Number of fusions, n (%) | ||
| 1 | 170 (81) | 16/16 (100) |
| 2 | 26 (12) | — |
| 3 | 11 (5) | — |
| 4 | 1 (0.6) | — |
| 5 | 1 (0.6) | — |
| 10 | 1 (0.6) | — |
| Chromosomal fusion type, n (%) | ||
| Intra-chromosomal | 114 (42) | 12 (75) |
| Inter-chromosomal | 160 (58) | 4 (25) |
| Type of rearrangement, n (%) | ||
| Entity-defining | 141 (51) | — |
| Previously described | 21 (8) | 2 (13) |
| Novel | 112 (41) | 14 (87) |
| Fusion type, n (%) | ||
| In frame | 191/274 (70) | 5/16 (31) |
| Out of frame (premature stop codon) | 52/274 (19) | 7/16 (44) |
| Other (intronic or breakpoint at UTR) | 31/274 (11) | 4/16 (25) |
| Total no. of novel fusions | 112/274 (41) | 14/16 (88) |
| Validation method, n (%) | ||
| WGS only | 31 (28) | 5 (36) |
| Cytogenetics only | 7 (6) | 1 (7) |
| Both | 74 (66) | 8 (57) |
| Chromosomal fusion type, n (%) | ||
| Intra-chromosomal | 65 (58) | 12 (86) |
| Inter-chromosomal | 47 (42) | 2 (14) |
| Fusion type, n (%) | ||
| In frame | 34 (30) | 5 (36) |
| Out of frame (premature stop codon) | 49 (43) | 7 (50) |
| Other (intronic or breakpoint at UTR) | 29 (27) | 2 (14) |
| Novel fusions, n (%) | ||
| Both fusion partners not reported before in hematological malignancies | 79 (70) | 11 (79) |
| Novel fusion partner of a gene previously reported in hematological malignancies | 33 (30) | 3 (21) |