Table 3.
Fusion genes detected in the Validation cohort with the Archer™ FusionPlex™ Heme Panel version 2
| Aberration according to AML or ALL FISH probe panel | Fusion interpretation of result from targeted RNA sequencing using Anchored multiplex PCR | Concordant with FISH result? | |
|---|---|---|---|
| Transcript | Number of unique reads (% of gene target) |
||
| inv(16); CBFB-MYH11 | CBFB-MYH11 e5-e33 | 2068 (48%) | Yes |
| t(1;19); TCF3-PBX1 | TCF3-PBX1 e16-e3 | 2216 (50%) | Yes |
| t(10;11); KMT2A-MLLT10 | KMT2A-MLLT10 e9-e8 | 471 (10%) | Yes |
| t(15;17); PML-RARA | PML-RARA e6-e3 | 1405 (32%) | Yes |
| t(12;21); ETV6-RUNX1 | ETV6-RUNX1 e5-e3 | 2242 (11%) | Yes |
| t(12;21); ETV6-RUNX1 | ETV6-RUNX1 e5-e3 | 1656 (18%) | Yes |
| t(9;22); BCR-ABL1 | BCR-ABL1 e1-e2 | 2084 (49%) | Yes |
| t(9;11); KMT2A-MLLT3 | KMT2A-MLLT3 e8-e6 | 803 (18%) | Yes |
| No fusion,signal pattern consistent with iAMP21a | No fusion | – | Yes |
| No fusion | TCF3-ZNF384 e12-e3 | 564 (54%) | Yesb |
| No fusion | No fusion | – | Yes |
| No fusion | No fusion | Yes | |
aiAMP21 confirmed with SNP-array
bFusion detected with Archer™PCR was not included in the FISH-panel used for analysis of the sample