Identification of 13 AML patients bearing an IDH1 R132 or IDH2 R172 mutation
| Patient ID | Mutation | Amino acid change | FAB subtype | NPM1 and FLT3 status | Cytogenetic profile | Genotype at relapse | 2-HG level (ng/2 × 106 cells) |
| IDH1 mutations | |||||||
| 090108 | G/A | R132H | M4 | na | Normal | na | 2,090 |
| 090356 | G/A | R132H | na | na | na | na | 1,529 |
| 0034 | C/T | R132C | M5a | Normal | Normal | na | 10,285 |
| 0086 | C/G | R132G | M2 | Normal | Normal | na | 10,470 |
| 0488 | C/T | R132C | M0 | Normal | Normal | R132C | 13,822 |
| 8587 | G/A | R132H | na | Normal | Normal | na | 5,742 |
| 8665 | C/T | R132C | M1 | na | Normal | na | 7,217 |
| 8741 | G/A | R132H | M4 | NPM1 | Normal | R132H | 6,419 |
| 9544 | C/G | R132G | na | na | Normal | R132G | 4,962 |
| 747762 | G/A | R132H | M1 | NPM1 | Normal | R132H | 8,464 |
| 090148 | C/T | R132C | M1 | na | 46, xx, i(7) (p10) [20] | na | na |
| IDH2 mutations | |||||||
| 9382 | G/A | R172K | M0 | Normal | Normal | na | 19,247 |
| 0831 | G/A | R172K | M1 | Normal | Normal | na | 15,877 |
| IDH1/2 WT | |||||||
| 090239 | WT | WT | na | FLT3 | Normal | na | 112 |
| 090158 | WT | WT | M2 | na | 46, XX [15] | na | 411 |
| 090313 | WT | WT | na | na | Normal | na | 116 |
| Patient ID | Mutation | Amino acid change | FAB subtype | NPM1 and FLT3 status | Cytogenetic profile | Genotype at relapse | 2-HG level (ng/2 × 106 cells) |
| IDH1 mutations | |||||||
| 090108 | G/A | R132H | M4 | na | Normal | na | 2,090 |
| 090356 | G/A | R132H | na | na | na | na | 1,529 |
| 0034 | C/T | R132C | M5a | Normal | Normal | na | 10,285 |
| 0086 | C/G | R132G | M2 | Normal | Normal | na | 10,470 |
| 0488 | C/T | R132C | M0 | Normal | Normal | R132C | 13,822 |
| 8587 | G/A | R132H | na | Normal | Normal | na | 5,742 |
| 8665 | C/T | R132C | M1 | na | Normal | na | 7,217 |
| 8741 | G/A | R132H | M4 | NPM1 | Normal | R132H | 6,419 |
| 9544 | C/G | R132G | na | na | Normal | R132G | 4,962 |
| 747762 | G/A | R132H | M1 | NPM1 | Normal | R132H | 8,464 |
| 090148 | C/T | R132C | M1 | na | 46, xx, i(7) (p10) [20] | na | na |
| IDH2 mutations | |||||||
| 9382 | G/A | R172K | M0 | Normal | Normal | na | 19,247 |
| 0831 | G/A | R172K | M1 | Normal | Normal | na | 15,877 |
| IDH1/2 WT | |||||||
| 090239 | WT | WT | na | FLT3 | Normal | na | 112 |
| 090158 | WT | WT | M2 | na | 46, XX [15] | na | 411 |
| 090313 | WT | WT | na | na | Normal | na | 116 |
FLT3, FMS-related tyrosine kinase 3 internal tandem duplications. Na indicates that some data were not available for some patients.