Table 2. IDH mutations in AML: frequency and clinical outcomes.
| All mIDH | mIDH1-R132 | mIDH2 (all) | mIDH2-R140 | mIDH2-R172 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Study | Frequency | Prognosis | Frequency | Prognosis | Frequency | Prognosis | Frequency | Prognosis | Frequency | Prognosis |
| Abbas et al.51 (N=893) | 17% | ↔ OS | 6% | ↔ OS | 11% | ↔ OS | 8.3% | ↔ OS | 2.6% | ↔ OS |
| Aref et al.37a (N=211) | 19% | ↓ OS↔CR | 8.5% | NR | 10.4% | NR | 9.5% | NR | 1% | NR |
| Boissel et al.43 (N=520) | NR | NR | 9.6% | ↑ RRa↓OSa | NR | NR | NR | NR | 3.0% | ↑ RRa↓OSa |
| Chotirat et al.50 (N=230) | 19.1% | ↔ OS | 8.7 | ↔ OS | 10.4% | ↔ OS | 8.7% | ↔ OS | 1.7% | ↔ OS |
| Chou et al.40 (N=446) | 18.2% | ↑ OS (trend) | 6.1% | ↓ OS (trend) | 12.1% | ↑ OS↔DFS ↔RFS | 9.2% | NR | 2.9% | NR |
| DiNardo et al.35 (N=826) | 20% | ↔ OS↔CR | 7.1% | ↔ OS↔CR | 12.8% | ↔ OS↔CR | 10% | NR | 2.7% | NR |
| Feng et al.48 (N=8121) | NR | NR | 4.4–9.3% | ↓ OS↔CR↓CRa | NR | NR | NR | NR | NR | NR |
| Green et al.55 (N=1473) | 17% | NR | 7% | ↔ OS | 10% | NR | 8% | ↑ OS | 2.0% | ↓ OS |
| Marcucci et al.10a (N=358) | 33.0% | NR | 13.7% | ↔ OS↓DFS | 19.3% | ↔ OS↓CR | 15.6% | ↔ OS | 3.6% | ↓ CR↔OS |
| Paschka et al.38 (N=805) | 16% | ↓ OS in NPM1mut/no FLT3-ITDwta | 7.6% | ↔ OS | 8.7% | ↔ OS | 6.0% | ↔OS | 2.7% | ↔ OS |
| Patel et al.42 (N=398) | 14.1% | ↑ OS in NPM1mut/FLT3-ITDwta | 5.8% | ↑ OS | 8.3% | ↑ OS | 6.0% | ↑ OS | 2.3% | NR |
| Ravandi et al.57 (N=358) | 30% | ↔ OS↔CR↔EFS | 7% | ↔ OSb↔CR↔EFS | 14% | ↔ OS↔CR↔EFS | NR | NR | NR | NR |
| Schnittger et al.106 (N=1414) | NR | NR | 6.6% | ↓ OS (trend)↓EFS↑RR | NR | NR | NR | NR | NR | NR |
| Thol et al.52a 153 MDS, 53 AML | NR | NR | NR | NR | 12.1% | ↔ OS↔CR | 11% | NR | 1.1% | NR |
| Wagner et al.11a (N=275) | NR | NR | 10.9% | ↔ OSc↔CR↔RFS | NR | NR | NR | NR | NR | NR |
| Willander et al.9 (N=189) | 21.7% | NR | 7.9% | ↔ OSc | 13.7% | NR | 11.1% | ↓ OS | 2.6% | ↑ OS |
| Yamaguchi et al.49 (N=233) | 16.7% | ↓ OS↓CR↔RFS | 8.6% | NR | 8.2% | NR | 7.3% | NR | 0.9% | NR |
Abbreviations: AML, acute myeloid leukemia; CR, complete remission; DFS, disease-free survival; EFS, event-free survival; IDH, isocitrate dehydrogenase; mIDH, mutant IDH; mut, mutation; NR, not reported; OS, overall survival; RFS, relapse-free survival; RR, relapse rate; wt, wild type; ‘↔', no effect; ↑, improved; ↓, worsened.
a
Limited to cytogenetically normal AML.
b
IDH1 G105 single-nucleotide polymorphism (SNP) had no effect on OS.
c
IDH1 SNP rs11554137 was an adverse prognostic factor for OS.