Table 4.
Biallelic events in relapsing samples
| Patient id. | Gene | AF at diagnosis | AF at relapse | Locus | CNA at diagnosis | CNA at relapse | Conclusion |
|---|---|---|---|---|---|---|---|
| 5 | WWOX | 0.9 | 0.9 | 16q23 | No | No | biallelic mutation |
| 7 | USP29 | 0.4 | 0.8 | 19q1 | No | Deletion 60% | became homozygous mutation at relapse |
| 11 | LRRK2 | 0.9 | 0.9 | 12q12 | No | No | biallelic mutation |
| 12 | KRAS | 0.9 | 0.8 | 12p12 | No | No | biallelic mutation |
| 14 | NOTCH1 | 0.7 | 0.7 | 9q34 | Trisomy 100% | Trisomy 100% | biallelic mutation |
| 15 | DIS3 | 1.0 | 0.9 | 13q21 | No | No | biallelic mutation |
| 15 | CYLD | 0.2 | 0.7 | 16q12 | Deletion 100% | Deletion 80% | homozygous mutation |
| 16 | RUNX1 | 0.6 | 0.7 | 21q22 | Gain 50 % | Gain 50 % | amplified mutation |
| 16 | CUL4A | 0.7 | 1.0 | 13q34 | Deletion 50% | Deletion 85 % | became homozygous mutation at relapse |
| 17 | PTPRZ1 | 0.7 | 0.6 | 7q31 | Gain 50 % | Gain 50 % | amplified mutation |
| 20 | PRDM1 | 0.7 | 0.6 | 6q21 | Gain 50 % | Gain 50 % | amplified mutation |
| 20 | PKHD1 | 0.6 | 0.7 | 6p12 | Gain 50 % | Gain 50 % | amplified mutation |
| 21 | TRAF3 | 0.9 | 0.8 | 14q32 | Deletion 80% | Deletion 80% | homozygous mutation |
| 23 | TP53 | 0.0 | 0.6 | 17p13 | No | Deletion 80% | homozygous mutation |
| 24 | WWOX | 1.0 | 0.6 | 16q23 | No | No | biallelic mutation |
| 26 | ARID3A | 0.6 | 0.6 | 19p13 | Gain 50 % | Gain 50 % | amplified mutation |
| 26 | PI4KA | 1.0 | 0.8 | 22q11 | Deletion 80% | Deletion 80% | homozygous mutation |
| 27 | RUNX1 | 0.7 | 0.7 | 21q22 | Gain 50 % | Gain 50 % | amplified mutation |
| 31 | NRAS | 0.4 | 1.0 | 1p13 | No | No | became biallelic mutation at relapse |
| 31 | FAM46C | 0.7 | 1.0 | 1p12 | No | No | biallelic mutation |
| 33 | TET2 | 1.0 | 1.0 | 4q24 | No | Deletion 80% | biallelic mutation with additional deletion at relapse |
| 33 | FAT1 | 0.5 | 0.6 | 4q35 | No | Gain 20% | became amplified mutation at relapse |