Table 2.
Abnormalities identified on NGS in patients that had it performed at relapse
| No | Sex | Age (years) | FAB | Karyotype | Other | NGS | Time | Significance | Outcome |
|---|---|---|---|---|---|---|---|---|---|
| 8 | F | 14,5 | M0 |
46, X, -X, add(3)(q27), -5, del(11)(q23), +der(19)t(1;19) (q23;p13), +mar[cp11]//46XY [6] |
No |
SET::NUP214 ASXL1 mutation PHP6 mutation |
Relapse | Rare– uncertain in AML Possible adverse prognostic | Death in 2nd relapse, after 2nd HSCT |
| 9 | M | 17,4 | M2 | 46, XX [20] | No | NUP214– ABL1 | Relapse | Unknown | 2nd remission, HSCT |
| 10 | M | 6,8 | M1 | 46,XY [18] | No | NUP98::NSD1 | Relapse | Poor prognosis | 2nd remission HSCT |
| 11 | M | 5,2 | M2 | 47, XY, der(5)t(1;5)(q23;q35), + 6. del(10)(q23), t(11;19)(q23;p13)[11] / 46,XY [9] | FISH: suggestive of 11q23 translocation |
KMT2A::MLLT1 ABL2 mutation |
Relapse | Intermediate | Death in relapse |
N– Patient number; FAB– French American British morphologic classification; Other– Other molecular methods; NGS– Next-generation sequencing; Time– Time point when the NGS panel was performed; HSCT–hematopoietic stem cell transplant; FISH - fluorescence in situ hybridization; RT-PCR reverse transcription polymerase chain reaction