Distribution of IDH1 and IDH2 mutations in 893 cases of AML
| . | IDH1 mutant . | IDH2 mutant . | Wild-type . | P . |
|---|---|---|---|---|
| Mean age at diagnosis, years (range) | 50 (20-71) | 50 (18-72) | 45 (15-77) | .002* |
| Mean WBC at diagnosis, × 109/L (range) | 48 (1-400) | 42 (18-72) | 46 (0-510) | |
| Mean platelets at diagnosis, × 109/L (range) | 131 (14-494) | 104 (11-884) | 83 (3-998) | .05* |
| Mean blasts at diagnosis, percentage (range) | 64 (0-96) | 65 (15-95) | 57 (0-98) | |
| Total,† no. (%) | 55 (6) | 97 (11) | 743 | |
| Female, no. (%) | 30 (7) | 52 (12) | 384 | |
| Male, no. (%) | 25 (6) | 45 (10) | 359 | |
| FAB, no. (%) | ||||
| M0 | — | 5 (11) | 40 | |
| M1 | 21 (12) | 36 (21) | 113 | |
| M2 | 14 (6) | 27 (11) | 195 | |
| M3 | — | — | 22 | |
| M4 | 7 (5) | 10 (7) | 130 | |
| M5 | 8 (5) | 14 (8) | 151 | |
| M6 | — | 1 (6) | 17 | |
| M7 | — | — | 1 | |
| RAEB | 3 (15) | — | 17 | |
| RAEB-t‡ | 1 (2) | 1 (2) | 43 | |
| Unknown | 1 (6) | 3 (17) | 14 | |
| Karyotype classification,§ no. (%) | ||||
| t(8;21) | — | 2 (4) | 51 | |
| inv(16) | — | — | 50 | |
| t(15;17) | — | — | 21 | |
| CA unfavorable | 2 (2) | 6 (7) | 74 | |
| MK | — | 3 (4) | 72 | |
| CN | 39 (10) | 58 (15) | 283 | < .001* |
| CA rest | 11 (6) | 23 (13) | 141 | |
| Unknown | 3 (5) | 5 (8) | 51 | |
| Mutations‖, no. (%) | ||||
| FLT3 ITD | 15 (7) | 19 (9) | 177 | |
| FLT3 TKD | 9 (10) | 12 (13) | 69 | |
| NPM1 | 35 (13) | 40 (15) | 191 | .001* |
| NPM1wtFLT3wt | 19 (3) | 50 (9) | 475 | |
| NPM1mutFLT3wt | 21 (15) | 28 (20) | 91 | |
| NPM1mutFLT3ITD | 14 (11) | 12 (10) | 100 | |
| NPM1wtFLT3ITD | 1 (1) | 7 (8) | 77 | |
| N-RAS¶ | 3 (6) | 3 (6) | 43 | |
| K-RAS¶ | 1 (17) | — | 4 | |
| CEBPA¶ | 1 (3) | 4 (11) | 30 |
| . | IDH1 mutant . | IDH2 mutant . | Wild-type . | P . |
|---|---|---|---|---|
| Mean age at diagnosis, years (range) | 50 (20-71) | 50 (18-72) | 45 (15-77) | .002* |
| Mean WBC at diagnosis, × 109/L (range) | 48 (1-400) | 42 (18-72) | 46 (0-510) | |
| Mean platelets at diagnosis, × 109/L (range) | 131 (14-494) | 104 (11-884) | 83 (3-998) | .05* |
| Mean blasts at diagnosis, percentage (range) | 64 (0-96) | 65 (15-95) | 57 (0-98) | |
| Total,† no. (%) | 55 (6) | 97 (11) | 743 | |
| Female, no. (%) | 30 (7) | 52 (12) | 384 | |
| Male, no. (%) | 25 (6) | 45 (10) | 359 | |
| FAB, no. (%) | ||||
| M0 | — | 5 (11) | 40 | |
| M1 | 21 (12) | 36 (21) | 113 | |
| M2 | 14 (6) | 27 (11) | 195 | |
| M3 | — | — | 22 | |
| M4 | 7 (5) | 10 (7) | 130 | |
| M5 | 8 (5) | 14 (8) | 151 | |
| M6 | — | 1 (6) | 17 | |
| M7 | — | — | 1 | |
| RAEB | 3 (15) | — | 17 | |
| RAEB-t‡ | 1 (2) | 1 (2) | 43 | |
| Unknown | 1 (6) | 3 (17) | 14 | |
| Karyotype classification,§ no. (%) | ||||
| t(8;21) | — | 2 (4) | 51 | |
| inv(16) | — | — | 50 | |
| t(15;17) | — | — | 21 | |
| CA unfavorable | 2 (2) | 6 (7) | 74 | |
| MK | — | 3 (4) | 72 | |
| CN | 39 (10) | 58 (15) | 283 | < .001* |
| CA rest | 11 (6) | 23 (13) | 141 | |
| Unknown | 3 (5) | 5 (8) | 51 | |
| Mutations‖, no. (%) | ||||
| FLT3 ITD | 15 (7) | 19 (9) | 177 | |
| FLT3 TKD | 9 (10) | 12 (13) | 69 | |
| NPM1 | 35 (13) | 40 (15) | 191 | .001* |
| NPM1wtFLT3wt | 19 (3) | 50 (9) | 475 | |
| NPM1mutFLT3wt | 21 (15) | 28 (20) | 91 | |
| NPM1mutFLT3ITD | 14 (11) | 12 (10) | 100 | |
| NPM1wtFLT3ITD | 1 (1) | 7 (8) | 77 | |
| N-RAS¶ | 3 (6) | 3 (6) | 43 | |
| K-RAS¶ | 1 (17) | — | 4 | |
| CEBPA¶ | 1 (3) | 4 (11) | 30 |
WBC indicates white blood cell count at diagnosis; FAB, French-American-British classification; —, not applicable; RAEB, refractory anemia with excess blasts; and RAEB-t, refractory anemia with excess blasts in transformation.
IDHmut vs IDHwild-type.
Includes 2 AML patients with IDH1 and IDH2 mutation.
At the time of diagnosis, these cases were classified as RAEB-t but would now be classified as AML.
Karyotypes were centrally reviewed. CA unfavorable: inv(3)/t(3;3), t(6;9), 11q23 abnormalities except t(9;11), −5, 5q−, −7, 7q− or t(9;22); MK: monosomal karyotypes (very unfavorable); CN: normal cytogenetics or -X or -Y as single abnormalities only (intermediate-risk I); CA rest: any other abnormal cytogenetics not included in any of the other categories (intermediate-risk II).
Mutation detection in FLT3 (ITD or TKD), NPM1, N-RAS, K-RAS, and CEBPA was performed as described previously.10-13
A total of 518 cases were analyzed.