The significance of posttherapy persistence of genetic abnormalities commonly seen in AML
| Genetic abnormality . | Type . | Techniques for detection . | Usually cleared after successful therapy . | Persistence after therapy associated with adverse outcome . |
|---|---|---|---|---|
| RUNX1-RUNX1T1, CBFB-MYH11, PML-RARA | AML-related | qPCR | Yes | Yes |
| NPM1 | AML-related | qPCR | Yes | Yes |
| KMT2A rearrangement, DEK-NUP214, BCR-ABL1 | AML-related | qPCR | Unknown | Unknown |
| NRAS/KRAS | AML-related | NGS | Yes | Yes |
| FLT3-ITD/FLT3-TKD | AML-related | NGS | Yes (but may be lost at relapse or acquired at relapse of previously FLT3 wild-type AML) | Unknown |
| PCR | ||||
| KIT | AML-related | NGS | Yes | Yes |
| PCR | ||||
| PTPN11 | AML-related | NGS | Yes | Yes |
| GATA2 | Likely AML-related | NGS | Yes | Unknown |
| CEBPA | Likely AML-related | NGS | Yes | Unknown |
| WT1 | Likely AML-related | NGS | Yes | Unknown |
| RUNX1 | CH (potentially AML-related) | NGS | Variable | Yes |
| IDH1/IDH2 | CH (potentially AML-related) | NGS | Variable | Yes |
| ddPCR | ||||
| DNMT3A | CH | NGS | Usually not | No |
| ASXL1 | CH | NGS | Variable | No |
| TET2 | CH | NGS | Usually not | No |
| SRSF2 | CH | NGS | Variable | No |
| BCOR | CH | NGS | Variable | No |
| TP53 | CH | NGS | Variable | Yes |
| Genetic abnormality . | Type . | Techniques for detection . | Usually cleared after successful therapy . | Persistence after therapy associated with adverse outcome . |
|---|---|---|---|---|
| RUNX1-RUNX1T1, CBFB-MYH11, PML-RARA | AML-related | qPCR | Yes | Yes |
| NPM1 | AML-related | qPCR | Yes | Yes |
| KMT2A rearrangement, DEK-NUP214, BCR-ABL1 | AML-related | qPCR | Unknown | Unknown |
| NRAS/KRAS | AML-related | NGS | Yes | Yes |
| FLT3-ITD/FLT3-TKD | AML-related | NGS | Yes (but may be lost at relapse or acquired at relapse of previously FLT3 wild-type AML) | Unknown |
| PCR | ||||
| KIT | AML-related | NGS | Yes | Yes |
| PCR | ||||
| PTPN11 | AML-related | NGS | Yes | Yes |
| GATA2 | Likely AML-related | NGS | Yes | Unknown |
| CEBPA | Likely AML-related | NGS | Yes | Unknown |
| WT1 | Likely AML-related | NGS | Yes | Unknown |
| RUNX1 | CH (potentially AML-related) | NGS | Variable | Yes |
| IDH1/IDH2 | CH (potentially AML-related) | NGS | Variable | Yes |
| ddPCR | ||||
| DNMT3A | CH | NGS | Usually not | No |
| ASXL1 | CH | NGS | Variable | No |
| TET2 | CH | NGS | Usually not | No |
| SRSF2 | CH | NGS | Variable | No |
| BCOR | CH | NGS | Variable | No |
| TP53 | CH | NGS | Variable | Yes |
References: Schuurhuis et al,7 Morita et al,15 Jongen-Lavrencic et al,16 Wong et al,28 Ivey et al,29 Zhou et al,31 Venditti et al,32 Hourigan et al,33 Hirsch et al,38 Press et al,39 Höllein et al,41 Klco et al,42 Wong et al,47 Petrova et al,50 Debarri et al,51 Ok et al,53 Yilmaz et al,56 Gaidzik et al,72 Rothenberg-Thurley et al,73 and Thol et al.74
ddPCR, droplet digital PCR.