Characteristics of patients with single DNMT3A mutation and double DNMT3A mutations
| . | Single DNMT3A mutation, N = 91 . | Double DNMT3A mutations, N = 13 . | P* . |
|---|---|---|---|
| Patient characteristics | |||
| Median age (range), y | 61 (23-87) | 62 (43-83) | >.05 |
| M:F ratio | 0.9 | 0.6 | >.05 |
| Abnormal karyotype, N (%) | 16 (18) | 3 (23) | >.05 |
| Treatment | |||
| Induction chemotherapy, N (%) | 82 (90) | 11 (85) | >.05 |
| FLT3-inhibitor therapy, N (%) | 5 (6) | 0 | >.05 |
| Allo-SCT, N (%) | 54 (59) | 5 (38) | >.05 |
| Median time from diagnosis to allo-SCT (range), mo | 8.4 | 4.1 | >.05 |
| Outcome | |||
| Achieved complete remission, N (%) | 78 (86) | 7 (54) | .0099 |
| Relapsed, N (%) | 44 (48) | 9 (69) | >.05 |
| Alive at last follow-up, N (%) | 53 (58) | 6 (46) | >.05 |
| Median EFS (range), mo | 28.2 (0.7-83.3) | 5.4 (1.3-19.2) | .0190 |
| Median OS (range), mo | 47 (0.7-83.3) | 9.3 (1.7-25.0) | .0156 |
| Type of DNMT3A mutations, N (%) | |||
| Missense mutations | 72 (79) | 17 (65) | >.05 |
| • R882H | 38 (42) | 1 (4) | .0002 |
| • R882C | 11 (12) | 0 | >.05 |
| • R882P | 3 (3) | 0 | >.05 |
| • Others | 20 (22) | 16 (62) | <.0001 |
| Nonsense mutations | 6 (7) | 4 (15) | >.05 |
| Frameshift mutations | 11 (12) | 4 (15) | >.05 |
| Splice site mutations | 2 (2) | 1 (4) | >.05 |
| Clinical parameters | |||
| Median Hb (range), g/dL | 8.8 (3.7-15) | 8.8 (7.6-12.5) | >.05 |
| Median platelets (range), ×103/µL | 88 (12-543) | 63 (18-225) | >.05 |
| Median WBC (range), ×109/L | 15.8 (0.6-220) | 9 (1.1-174) | >.05 |
| Median PB blasts (range), % | 16 (0-98) | 13 (0-93) | >.05 |
| Median BM blasts (range), % | 67 (20-96) | 44 (25-84) | >.05 |
| WHO classification, N (%) | |||
| AML, NOS | 27 (30) | 7 (54) | >.05 |
| AML-MRC | 6 (7) | 1 (8) | >.05 |
| AML with NPM1 mutation | 50 (55) | 4 (31) | >.05 |
| AML with RUNX1 mutation | 8 (9) | 1 (8) | >.05 |
| Morphologic parameters | |||
| Erythroid dysplasia | |||
| Mean dysplasia, % | 28 | 30 | >.05 |
| Mean megaloblastic change | 0.9 | 1.3 | >.05 |
| Mean multinucleation | 0.7 | 0.4 | >.05 |
| Mean nuclear irregularities | 1.5 | 1.4 | >.05 |
| Granulocytic dysplasia | |||
| Mean dysplasia, % | 25 | 53 | >.05 |
| Mean abnormal nuclear shape | 0.9 | 1.9 | >.05 |
| Mean hypogranulation | 1.1 | 2.1 | >.05 |
| Megakaryocytic dysplasia | |||
| Mean dysplasia, % | 42 | 76 | >.05 |
| Mean micromegakaryocytes | 1.2 | 1.4 | >.05 |
| Mean separated nuclear lobes | 1.2 | 2 | >.05 |
| Mean hypolobated nuclei | 1.4 | 1.4 | >.05 |
| . | Single DNMT3A mutation, N = 91 . | Double DNMT3A mutations, N = 13 . | P* . |
|---|---|---|---|
| Patient characteristics | |||
| Median age (range), y | 61 (23-87) | 62 (43-83) | >.05 |
| M:F ratio | 0.9 | 0.6 | >.05 |
| Abnormal karyotype, N (%) | 16 (18) | 3 (23) | >.05 |
| Treatment | |||
| Induction chemotherapy, N (%) | 82 (90) | 11 (85) | >.05 |
| FLT3-inhibitor therapy, N (%) | 5 (6) | 0 | >.05 |
| Allo-SCT, N (%) | 54 (59) | 5 (38) | >.05 |
| Median time from diagnosis to allo-SCT (range), mo | 8.4 | 4.1 | >.05 |
| Outcome | |||
| Achieved complete remission, N (%) | 78 (86) | 7 (54) | .0099 |
| Relapsed, N (%) | 44 (48) | 9 (69) | >.05 |
| Alive at last follow-up, N (%) | 53 (58) | 6 (46) | >.05 |
| Median EFS (range), mo | 28.2 (0.7-83.3) | 5.4 (1.3-19.2) | .0190 |
| Median OS (range), mo | 47 (0.7-83.3) | 9.3 (1.7-25.0) | .0156 |
| Type of DNMT3A mutations, N (%) | |||
| Missense mutations | 72 (79) | 17 (65) | >.05 |
| • R882H | 38 (42) | 1 (4) | .0002 |
| • R882C | 11 (12) | 0 | >.05 |
| • R882P | 3 (3) | 0 | >.05 |
| • Others | 20 (22) | 16 (62) | <.0001 |
| Nonsense mutations | 6 (7) | 4 (15) | >.05 |
| Frameshift mutations | 11 (12) | 4 (15) | >.05 |
| Splice site mutations | 2 (2) | 1 (4) | >.05 |
| Clinical parameters | |||
| Median Hb (range), g/dL | 8.8 (3.7-15) | 8.8 (7.6-12.5) | >.05 |
| Median platelets (range), ×103/µL | 88 (12-543) | 63 (18-225) | >.05 |
| Median WBC (range), ×109/L | 15.8 (0.6-220) | 9 (1.1-174) | >.05 |
| Median PB blasts (range), % | 16 (0-98) | 13 (0-93) | >.05 |
| Median BM blasts (range), % | 67 (20-96) | 44 (25-84) | >.05 |
| WHO classification, N (%) | |||
| AML, NOS | 27 (30) | 7 (54) | >.05 |
| AML-MRC | 6 (7) | 1 (8) | >.05 |
| AML with NPM1 mutation | 50 (55) | 4 (31) | >.05 |
| AML with RUNX1 mutation | 8 (9) | 1 (8) | >.05 |
| Morphologic parameters | |||
| Erythroid dysplasia | |||
| Mean dysplasia, % | 28 | 30 | >.05 |
| Mean megaloblastic change | 0.9 | 1.3 | >.05 |
| Mean multinucleation | 0.7 | 0.4 | >.05 |
| Mean nuclear irregularities | 1.5 | 1.4 | >.05 |
| Granulocytic dysplasia | |||
| Mean dysplasia, % | 25 | 53 | >.05 |
| Mean abnormal nuclear shape | 0.9 | 1.9 | >.05 |
| Mean hypogranulation | 1.1 | 2.1 | >.05 |
| Megakaryocytic dysplasia | |||
| Mean dysplasia, % | 42 | 76 | >.05 |
| Mean micromegakaryocytes | 1.2 | 1.4 | >.05 |
| Mean separated nuclear lobes | 1.2 | 2 | >.05 |
| Mean hypolobated nuclei | 1.4 | 1.4 | >.05 |
Bold P values represent < .05.
See Table 1 for expansion of abbreviations.
P values comparing cases with single DNMT3A mutation vs double DNMT3A mutations.