Fifty of 1000 cord bloods from healthy newborns were ETV6-RUNX1 translocation-positive in GIPFEL screening
Healthy newborn . | Multiplexed primer group . | Forward primer . | RUNX1 intron . | Reverse primer . | ETV6 intron . | Estimated frequency . |
---|---|---|---|---|---|---|
N005 | 3 | RUNX1-S6f | 1 | ETV6-S1r-n | 5 | 1 × 10−4 |
N059 | 4 | RUNX1-S13f | 1 | ETV6-S2r-n | 5 | 6 × 10−3 |
N099 | 3 | RUNX1-S2f | 2 | ETV6-S2r-n | 5 | 2 × 10−4 |
N260 | 2 | RUNX1-S14f | 1 | ETV6-S2r-n | 5 | 1.5 × 10−4 |
N285 | 2 | RUNX1-S11f | 1 | ETV6-S1r-n | 5 | 8 × 10−4 |
N286 | 3 | RUNX1-S8f | 1 | ETV6-S1r-n | 5 | 1 × 10−4 |
N382 | 2 | RUNX1-S11f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−3 |
N424* | 1 | RUNX1-S23f | 1 | ETV6-S1r-n | 5 | 5 × 10−4 |
N439 | 1 | RUNX1-S23f | 1 | ETV6-S1r-n | 5 | 4 × 10−4 |
N440 | 3 | RUNX1-S18f | 1 | ETV6-S2r-n | 5 | 1 × 10−3 |
N441 | 1 | RUNX1-S22f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N447 | 1 | RUNX1-S28f | 1 | ETV6-S3r-n | 5/6 | 2 × 10−3 |
N463 | 2 | RUNX1-S10f | 1 | ETV6-S2r-n | 5 | 3 × 10−4 |
N472 | 4 | RUNX1-S21f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−4 |
N479 | 4 | RUNX1-S13f | 1 | ETV6-S2r-n | 5 | 1 × 10−3 |
N493 | 3 | RUNX1-S18f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N496 | 4 | RUNX1-S5f | 1 | ETV6-S1r-n | 5 | 1.5 × 10−3 |
N505 | 2 | RUNX1-S11f | 1 | ETV6-S3r-n | 5/6 | 4 × 10−3 |
N505 | 4 | RUNX1-S13f | 1 | ETV6-S1r-n | 5 | 7 × 10−4 |
N506 | 1 | RUNX1-S28f | 1 | ETV6-S1r-n | 5 | 5 × 10−3 |
N521 | 2 | RUNX1-S4f | 1 | ETV6-S2r-n | 5 | 4 × 10−2 |
N522 | 2 | RUNX1-S10f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N527 | 4 | RUNX1-S21f | 1 | ETV6-S1r-n | 5 | 4 × 10−3 |
N531 | 3 | RUNX1-S29f | 1 | ETV6-S2r-n | 5 | 5 × 10−3 |
N531 | 4 | RUNX1-S13f | 1 | ETV6-S2r-n | 5 | 1.5 × 10−3 |
N548 | 4 | RUNX1-S21f | 1 | ETV6-S2r-n | 5 | 9 × 10−5 |
N563 | 2 | RUNX1-S11f | 1 | ETV6-S2r-n | 5 | 8 × 10−4 |
N578 | 2 | RUNX1-S24f | 1 | ETV6-S3r-n | 5/6 | 8 × 10−5 |
N590 | 1 | RUNX1-S26f | 1 | ETV6-S1r-n | 5 | 4 × 10−4 |
N599 | 2 | RUNX1-S10f | 1 | ETV6-S3r-n | 5/6 | 5 × 10−3 |
N619 | 4 | RUNX1-S5f | 1 | ETV6-S3r-n | 5/6 | 6 × 10−3 |
N622 | 1 | RUNX1-S26f | 1 | ETV6-S2r-n | 5 | 3 × 10−4 |
N630 | 1 | RUNX1-S12f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N651 | 2 | RUNX1-S4f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N670 | 1 | RUNX1-S12f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−2 |
N673 | 3 | RUNX1-S8f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N674 | 1 | RUNX1-S28f | 1 | ETV6-S3r-n | 5/6 | 9 × 10−3 |
N726* | 1 | RUNX1-S22f | 1 | ETV6-S1r-n | 5 | 4 × 10−5 |
N729 | 1 | RUNX1-S23f | 1 | ETV6-S3r-n | 5/6 | 5 × 10−5 |
N731 | 2 | RUNX1-S4f | 1 | ETV6-S3r-n | 5/6 | 1.5 × 10−5 |
N732 | 2 | RUNX1-S10f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N770 | 4 | RUNX1-S13f | 1 | ETV6-S3r-n | 5/6 | 4 × 10−4 |
N775 | 2 | RUNX1-S14f | 1 | ETV6-S2r-n | 5 | 1 × 10−3 |
N784 | 1 | RUNX1-S28f | 1 | ETV6-S2r-n | 5 | 3 × 10−4 |
N791 | 3 | RUNX1-S6f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N795 | 2 | RUNX1-S24f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−4 |
N817* | 4 | RUNX1-S25f | 1 | ETV6-S1r-n | 5 | 2 × 10−3 |
N823* | 4 | RUNX1-S13f | 1 | ETV6-S1r-n | 5 | 1 × 10−3 |
N890* | 1 | RUNX1-S23f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−3 |
N908 | 1 | RUNX1-S15f | 1 | ETV6-S3r-n | 5/6 | 6 × 10−4 |
N912 | 2 | RUNX1-S24f | 1 | ETV6-S2r-n | 5 | 3 × 10−3 |
N926 | 4 | RUNX1-S5f | 1 | ETV6-S3r-n | 5/6 | 3 × 10−4 |
Healthy newborn . | Multiplexed primer group . | Forward primer . | RUNX1 intron . | Reverse primer . | ETV6 intron . | Estimated frequency . |
---|---|---|---|---|---|---|
N005 | 3 | RUNX1-S6f | 1 | ETV6-S1r-n | 5 | 1 × 10−4 |
N059 | 4 | RUNX1-S13f | 1 | ETV6-S2r-n | 5 | 6 × 10−3 |
N099 | 3 | RUNX1-S2f | 2 | ETV6-S2r-n | 5 | 2 × 10−4 |
N260 | 2 | RUNX1-S14f | 1 | ETV6-S2r-n | 5 | 1.5 × 10−4 |
N285 | 2 | RUNX1-S11f | 1 | ETV6-S1r-n | 5 | 8 × 10−4 |
N286 | 3 | RUNX1-S8f | 1 | ETV6-S1r-n | 5 | 1 × 10−4 |
N382 | 2 | RUNX1-S11f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−3 |
N424* | 1 | RUNX1-S23f | 1 | ETV6-S1r-n | 5 | 5 × 10−4 |
N439 | 1 | RUNX1-S23f | 1 | ETV6-S1r-n | 5 | 4 × 10−4 |
N440 | 3 | RUNX1-S18f | 1 | ETV6-S2r-n | 5 | 1 × 10−3 |
N441 | 1 | RUNX1-S22f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N447 | 1 | RUNX1-S28f | 1 | ETV6-S3r-n | 5/6 | 2 × 10−3 |
N463 | 2 | RUNX1-S10f | 1 | ETV6-S2r-n | 5 | 3 × 10−4 |
N472 | 4 | RUNX1-S21f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−4 |
N479 | 4 | RUNX1-S13f | 1 | ETV6-S2r-n | 5 | 1 × 10−3 |
N493 | 3 | RUNX1-S18f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N496 | 4 | RUNX1-S5f | 1 | ETV6-S1r-n | 5 | 1.5 × 10−3 |
N505 | 2 | RUNX1-S11f | 1 | ETV6-S3r-n | 5/6 | 4 × 10−3 |
N505 | 4 | RUNX1-S13f | 1 | ETV6-S1r-n | 5 | 7 × 10−4 |
N506 | 1 | RUNX1-S28f | 1 | ETV6-S1r-n | 5 | 5 × 10−3 |
N521 | 2 | RUNX1-S4f | 1 | ETV6-S2r-n | 5 | 4 × 10−2 |
N522 | 2 | RUNX1-S10f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N527 | 4 | RUNX1-S21f | 1 | ETV6-S1r-n | 5 | 4 × 10−3 |
N531 | 3 | RUNX1-S29f | 1 | ETV6-S2r-n | 5 | 5 × 10−3 |
N531 | 4 | RUNX1-S13f | 1 | ETV6-S2r-n | 5 | 1.5 × 10−3 |
N548 | 4 | RUNX1-S21f | 1 | ETV6-S2r-n | 5 | 9 × 10−5 |
N563 | 2 | RUNX1-S11f | 1 | ETV6-S2r-n | 5 | 8 × 10−4 |
N578 | 2 | RUNX1-S24f | 1 | ETV6-S3r-n | 5/6 | 8 × 10−5 |
N590 | 1 | RUNX1-S26f | 1 | ETV6-S1r-n | 5 | 4 × 10−4 |
N599 | 2 | RUNX1-S10f | 1 | ETV6-S3r-n | 5/6 | 5 × 10−3 |
N619 | 4 | RUNX1-S5f | 1 | ETV6-S3r-n | 5/6 | 6 × 10−3 |
N622 | 1 | RUNX1-S26f | 1 | ETV6-S2r-n | 5 | 3 × 10−4 |
N630 | 1 | RUNX1-S12f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N651 | 2 | RUNX1-S4f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N670 | 1 | RUNX1-S12f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−2 |
N673 | 3 | RUNX1-S8f | 1 | ETV6-S2r-n | 5 | 1 × 10−2 |
N674 | 1 | RUNX1-S28f | 1 | ETV6-S3r-n | 5/6 | 9 × 10−3 |
N726* | 1 | RUNX1-S22f | 1 | ETV6-S1r-n | 5 | 4 × 10−5 |
N729 | 1 | RUNX1-S23f | 1 | ETV6-S3r-n | 5/6 | 5 × 10−5 |
N731 | 2 | RUNX1-S4f | 1 | ETV6-S3r-n | 5/6 | 1.5 × 10−5 |
N732 | 2 | RUNX1-S10f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N770 | 4 | RUNX1-S13f | 1 | ETV6-S3r-n | 5/6 | 4 × 10−4 |
N775 | 2 | RUNX1-S14f | 1 | ETV6-S2r-n | 5 | 1 × 10−3 |
N784 | 1 | RUNX1-S28f | 1 | ETV6-S2r-n | 5 | 3 × 10−4 |
N791 | 3 | RUNX1-S6f | 1 | ETV6-S2r-n | 5 | 1 × 10−4 |
N795 | 2 | RUNX1-S24f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−4 |
N817* | 4 | RUNX1-S25f | 1 | ETV6-S1r-n | 5 | 2 × 10−3 |
N823* | 4 | RUNX1-S13f | 1 | ETV6-S1r-n | 5 | 1 × 10−3 |
N890* | 1 | RUNX1-S23f | 1 | ETV6-S3r-n | 5/6 | 1 × 10−3 |
N908 | 1 | RUNX1-S15f | 1 | ETV6-S3r-n | 5/6 | 6 × 10−4 |
N912 | 2 | RUNX1-S24f | 1 | ETV6-S2r-n | 5 | 3 × 10−3 |
N926 | 4 | RUNX1-S5f | 1 | ETV6-S3r-n | 5/6 | 3 × 10−4 |
Frequencies refer to B-cell population. Results for 2 newborns with concurrent fusions appear in bold.
In these cases, the translocation was confirmed by Sanger sequencing of the breakpoint.