Table 1.
| Publication | AML subtype | N total patients | N matched Dx/Rel | Sequencing strategy | Models of evolution | Dx associated mutations | Rel associated mutations |
|---|---|---|---|---|---|---|---|
| Garg et al.,37 Blood 2015 | AML with FLT3‐ITD | 80 |
WES: 13 (+CR), GPS: 37 (+CR) |
Initial WES, extended GPS | Linear (n = 2), branching (n = 5) | NPM1, CEBPA, GATA2, SRCAP | SETD1A, ASXL1 |
| Madan et al.,38 Leukemia 2016 | APL | 212 |
WES: 8 (+CR), GPS:22 (‐CR) |
Initial WES, extended GPS | Linear (n = 5), branching (n = 1) | FLT3‐SNV, NRAS, KRAS | PML, RARA, RUNX1, ARID1B |
| Sood et al.,39 Leukemia 2016 | AML with inv(16) or t(8;21) | 13 |
10 (+CR), 3 (‐CR) |
WES | Linear (n = 7), branching (n = 4) | NRAS | GATA2 deletions‐ |
| Sun et al.,40 Leukemia 2017 | AML with MLL‐PTD | 85 |
WES: 5 (+CR), GPS: 8 (‐CR) |
Initial WES, extended GPS | NA | STAG2 | FAT1 |
|
Greif et al.,41 Clin Can Res 2018 |
CN‐AML | 50 | 50 (+CR) | WES, validated by GPS | Linear (n= 33), branching (n = 11) | NPM1, FLT3‐SNV, PTPN11, NRAS | FLT3‐ITD, IDH1, WT1, KDM6A |
|
Höllein et al.,43 Blood Adv 2018 |
AML with NPM1 mut | 104 | 11 (‐CR) | GPS | NA | NPM1, PTPN11 | RUNX1, TP53 |
| Christen et al.,44 Blood 2019 | AML with t(8;21) | 331 | 19 (+CR) | GPS | NA | ASXL2 | G2E3 |
| Höllein et al.,45 Hemasphere 2019 | AML with RUNX1‐RUNX1T1 | 94 | 17 (‐CR) | GPS | NA | ASXL1, ASXL2, NRAS | KIT |
|
Cocciardi et al.,42 Nat Commun 2019 |
AML with NPM1 mut | 129 |
WES: 20 (+CR), GPS: 109 (‐CR) |
Initial GPS, selected WES | Linear (n = 5), branching (n = 15) | NPM1, NRAS, FLT3‐SNV | FLT3‐ITD, MLL‐PTD, RUNX1 |
Note: Gene symbols in bold represent common events reported at least in two independent cohorts.
Abbreviations: Dx, diagnosis; Rel, relapse; WES, whole exome sequencing; GPS, gene panel sequencing; CR, complete remission.