Table 6.
Meta-Analysis of AML with IDH1R132 mutation
| Our Study (N=12) N (%) |
Mardis et al11, 2009 (N=16) N (%) |
Chou et al18, 2010 (N=27) N (%) |
Marcucci et al16, 2010 (N=49)‡ N (%) |
Wagner et al15, 2010 N=30 N (%) |
Ho et al17, 2010 N=12 N (%) |
Total Cases N=146 N (%) |
|
|---|---|---|---|---|---|---|---|
| % of all cases in the study | 12/199 (6) | 16/188 (9) | 27/493 (6) | 49/358 (14) | 30/275 (11) | 12/274 (4) | 146/1512(10) |
| Age in years | 55 | 48.9 ± | 52.5 | 62* | 50* | 61* | 52** |
| (Mean, Range) | (37–77) | 15.4 | (25–75) | (21–82) | (33–80) | (34–81) | |
| M:F | 1:3 | 1.3:1 | 1.1:1 | 1:1.1 | 1:1.7 | 2:1 | 1:1.1 |
| FAB Classification | NA | NA | |||||
| M1 | 4 (33) | 10 (62) | 14 (52) | 6 (20) | 28/55 (51) | ||
| M2 | 4 (33) | 3 (19) | 9 (33) | 9 (30) | 16/55 (29) | ||
| M4 | 0 | 3 (19) | 2 (7) | 8 (27) | 5/55 (9) | ||
| M5 | 2 (17) | 0 | 2 (7) | 4 (13) | 4/55 (7) | ||
| RAEB-T | 2 (17) | 0 | 0 | – | 2/55 (4) | ||
| % Blast (Mean, Range) | 55 (22–88) | 76.7 ± 16.4 | NA | 73* (33–99) | 80* (20–99) | 80* (38–99) | 67** |
| Cytogenetic Findings | NA† | NA† | |||||
| Normal | 11 (92) | 13 (81) | 20/26 (77) | 6/10(60) | 50/64 (78) | ||
| Abnormal | 1 (8) | 3 (19) | 6/26 (23) | 4/10(40) | 14/64 (12) | ||
| Cytogenetic Risk-Group | – | 0 | 0 | NA† | NA† | 0 | 0 |
| Favorable | 12 (100) | 16 (100) | 26/26 (100) | 12 (100) | 66/66(100) | ||
| Intermediate | 0 | 0 | 0 | 0 | 0 | ||
| Poor | |||||||
| Frequency in CN- AML | 11/127 (9) | 13/80(16) | 20/227 (8) | 49/358 (14) | 30/275 (11) | 6/85 (7) | 130/1152 (11) |
| Types of IDH1 Mutation | |||||||
| R132H | 6 (50) | 7 (44) | 7 (26) | 24 (49) | 21 (70) | 8 (67) | 73/146(50) |
| R132C | 6 (50) | 8 (50) | 10 (37) | 15 (31) | 5 (17) | 1 (9) | 45/146(31) |
| R132S | – | 1 (6) | 5 (19) | 5 (10) | 3 (10) | – | 13/146(9) |
| R132L | – | – | 1 (4) | – | – | 2 (18) | 3/146 (2) |
| R132G | – | – | 4 (15) | – | 1 (3) | 1 (9) | 6/146 (4) |
| Coexisting Mutations | |||||||
| NPM1 | 5/11 (46) | 7 (44) | 15/27 (56) | 34/48(71) | 17/30(57) | 9/12(75) | 87/144(60) |
| FLT3-ITD | 3/12 (25) | 4 (25) | 10/27 (37) | 10/49(20) | 4/30 (13) | 6/12(50) | 29/146(20) |
| FLT3-D835 | 1/12 (9) | 1 (6) | 3/27 (11) | 3/48 (6) | NA | NA | 8/103 (8) |
| CEBPA | 2/10 (20) | NA | 1/27 (4) | 2/36 (6) | 8/30 (27) | 1/12(9) | 14/115(12) |
| NPM1+FLT3-ITD | 2/12 (17) | NA | 9/27 (33) | NA | NA | NA | 11/39 (28) |
| NRAS | 2/12 (17) | 1 (6) | 4/27 (15) | NA | NA | 2/12(18) | 9/67 (13) |
| KRAS | 0/12 | NA | 0/27 | NA | NA | NA | 0/39 |
| KIT | 1/9 (11) | NA | 0/27 | NA | NA | NA | 1/36 (3) |
| IDH2 | 0/11 | NA | NA | 0/49 | NA | NA | 0/60 |
*
median age;
**
average of mean values only;
†
only cytogenetically normal cases tested in this study;
‡
includes two non-R132 mutations; RAEB-T, refractory anemia with excess blast in transformation; NA, not available; R, arginine; H, histidine; C, cysteine; L, leucine; G, glycine