Clinical and laboratory characteristics of 75 patients with blast phase MPNs with targeted gene sequencing information at the time of leukemic transformation, stratified by driver mutations
| Variables . | All patients (n = 75) . | Patients with JAK2 mutation (n = 43, 57.3%) . | Patients with CALR mutation (n = 15, 20%) . | Patients with MPL mutation (n = 7, 9.3%) . | Patients with triple-negative (n = 10, 13.3%) . | P . |
|---|---|---|---|---|---|---|
| Age, median (range), y | 66 (44-86) | 66 (44-86) | 63 (46-81) | 72 (52-80) | 69 (61-76) | .5 |
| Age >65 y, n (%) | 40 (53) | 22 (51) | 6 (40) | 5 (71) | 7 (70) | .4 |
| Male sex, n (%) | 48 (64) | 29 (67) | 7 (47) | 3 (43) | 9 (90) | .09 |
| Transfusion dependent, n (%); “N” evaluable = 71 (95%) | 26 (37) | 13 (31) | 3 (25) | 4 (57) | 6 (60) | .2 |
| Hemoglobin, median (range), g/dL; “N” evaluable = 69 (92%) | 9 (5.8-18.1) | 8.9 (5.8-18.1) | 9.1 (7.5-10.7) | 8.6 (7-10.2) | 10.4 (6.6-11.1) | .5 |
| Platelets, median (range), × 109/L; “N” evaluable = 69 (92%) | 73 (4-1246) | 73 (4-1246) | 80 (24-464) | 143 (10-430) | 69 (14-417) | .9 |
| Platelets < 100 × 109/L, n (%); “N” evaluable = 69 (92%) | 40 (58) | 24 (59) | 7 (54) | 3 (50) | 6 (67) | .9 |
| Leukocytes, median (range), × 109/L; “N” evaluable = 69 (92%) | 18.4 (0.8-130.1) | 12.5 (1.3-90.9) | 23.3 (3.7-130.1) | 17.4 (1.4-66) | 18.7 (0.8-57.4) | .7 |
| Leukocytes > 25 × 109/L, n (%); “N” evaluable = 69 (92%) | 26 (38) | 15 (37) | 6 (46) | 2 (33) | 3 (33) | .9 |
| Circulating blasts %, median (range); “N” evaluable = 70 (93%) | 30 (0-89) | 27 (1-89) | 30 (1-75) | 25 (11-46) | 32 (0-74) | .9 |
| Circulating blasts ≥20%, n (%); “N” evaluable = 70 (93%) | 51 (73) | 30 (73) | 10 (71) | 4 (66) | 7 (78) | .9 |
| BM blasts %, median (range); “N” evaluable = 61 (81%) | 33 (2-91) | 33 (2-91) | 25 (3-72) | 36 (10-68) | 45 (22-90) | .4 |
| BM blasts ≥20%, n (%); “N” evaluable = 61 (81%) | 53 (87) | 31 (84) | 10 (91) | 5 (83) | 7 (100) | .7 |
| ANC, median (range), × 109/L; “N” evaluable = 69 (92%) | 4.4 (0.1-38.7) | 4.4 (0.1-38.7) | 8.6 (0.9-38.3) | 4.6 (0.2-13.4) | 2.9 (0.1-23.5) | .5 |
| AMC, median (range), × 109/L; “N” evaluable = 68 (91%) | 0.5 (0-24.3) | 0.4 (0-18.6) | 0.5 (0-24.3) | 1.2 (0.05-18.5) | 1.1 (0.2-7) | .4 |
| MPN variant, n (%) | .0006 | |||||
| Post-PMF AML | 39 (52) | 22 (51) | 5 (33) | 4 (57) | 8 (80) | |
| Post-ET AML | 20 (27) | 6 (14) | 10 (67) | 2 (29) | 2 (20) | |
| Post-PV AML | 16 (21) | 15 (35) | 0 (0) | 1 (14) | 0 (0) | |
| Karyotype, n (%); “N” evaluable = 62 (83%) | .2 | |||||
| Very high-risk karyotype | 21 (34) | 15 (41) | 3 (30) | 1 (17) | 2 (22) | |
| Unfavorable karyotype | 22 (35) | 13 (35) | 5 (50) | 3 (50) | 1 (11) | |
| Favorable karyotype | 19 (31) | 9 (24) | 2 (20) | 2 (33) | 6 (67) | |
| NGS, n (%) | ||||||
| ASXL1 mutated | 35 (47) | 14 (33) | 9 (60) | 5 (71) | 7 (70) | .04 |
| TET2 mutated | 14 (19) | 9 (21) | 1 (7) | 2 (29) | 2 (20) | .6 |
| TP53 mutated | 12 (16) | 7 (16) | 3 (20) | 1 (14) | 1 (10) | .9 |
| SRSF2 mutated | 10 (13) | 7 (16) | 1 (7) | 2 (29) | 0 (0) | .3 |
| RUNX1 mutated | 13 (17) | 11 (26) | 0 (0) | 1 (14) | 1 (10) | .1 |
| EZH2 mutated | 11 (15) | 4 (9) | 4 (27) | 1 (14) | 2 (20) | .4 |
| IDH1 mutated | 9 (12) | 4 (9) | 3 (20) | 2 (29) | 0 (0) | .2 |
| NRAS mutated | 8 (11) | 4 (9) | 0 (0) | 0 (0) | 4 (40) | .008 |
| SETBP1 mutated | 8 (11) | 4 (9) | 2 (13) | 1 (14) | 1 (10) | .9 |
| SH2B3 mutated | 8 (11) | 5 (12) | 1 (7) | 0 (0) | 2 (20) | .6 |
| PTPN11 mutated | 6 (8) | 3 (7) | 1 (7) | 1 (14) | 1 (10) | .9 |
| IDH2 mutated | 5 (7) | 5 (12) | 0 (0) | 0 (0) | 0 (0) | .3 |
| SF3B1 mutated | 5 (7) | 2 (5) | 2 (13) | 1 (14) | 0 (0) | .4 |
| U2AF1 mutated | 4 (5) | 4 (9) | 0 (0) | 0 (0) | 0 (0) | .4 |
| SUZ12 mutated | 3 (4) | 2 (5) | 0 (0) | 1 (14) | 0 (0) | .4 |
| CBL mutated | 3 (4) | 0 (0) | 1 (7) | 1 (14) | 1 (10) | .2 |
| KRAS mutated | 3 (4) | 2 (5) | 1 (7) | 0 (0) | 0 (0) | .8 |
| JAK1 mutated | 3 (4) | 3 (7) | 0 (0) | 0 (0) | 0 (0) | .5 |
| DNMT3A mutated | 2 (3) | 1 (2) | 0 (0) | 0 (0) | 1 (10) | .4 |
| CEBPA mutated | 2 (3) | 0 (0) | 0 (0) | 2 (29) | 0 (0) | .0002 |
| ETNK1 mutated | 2 (3) | 1 (2) | 1 (7) | 0 (0) | 0 (0) | .7 |
| IKZF1 mutated | 2 (3) | 1 (2) | 1 (7) | 0 (0) | 0 (0) | .7 |
| KIT mutated | 2 (3) | 0 (0) | 1 (7) | 1 (14) | 0 (0) | .1 |
| BCOR mutated | 1 (1) | 0 (0) | 1 (7) | 0 (0) | 0 (0) | .3 |
| TERT mutated | 1 (1) | 0 (0) | 1 (7) | 0 (0) | 0 (0) | .3 |
| JAK3 mutated | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | .9 |
| FLT3 mutated | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | .9 |
| Allogeneic SCT, n (%) | 6 (8) | 4 (10) | 1 (7) | 0 (0) | 1 (10) | .8 |
| Follow-up, median (range), mo | 4.1 (0.5-70.7) | 4.7 (0.6-65.7) | 8.1 (0.5-32.5) | 3.7 (0.6-70.7) | 3.4 (0.5-35.3) | .3 |
| Deaths, n (%) | 74 (99) | 42 (98) | 15 (100) | 7 (100) | 10 (100) | .9 |
| Variables . | All patients (n = 75) . | Patients with JAK2 mutation (n = 43, 57.3%) . | Patients with CALR mutation (n = 15, 20%) . | Patients with MPL mutation (n = 7, 9.3%) . | Patients with triple-negative (n = 10, 13.3%) . | P . |
|---|---|---|---|---|---|---|
| Age, median (range), y | 66 (44-86) | 66 (44-86) | 63 (46-81) | 72 (52-80) | 69 (61-76) | .5 |
| Age >65 y, n (%) | 40 (53) | 22 (51) | 6 (40) | 5 (71) | 7 (70) | .4 |
| Male sex, n (%) | 48 (64) | 29 (67) | 7 (47) | 3 (43) | 9 (90) | .09 |
| Transfusion dependent, n (%); “N” evaluable = 71 (95%) | 26 (37) | 13 (31) | 3 (25) | 4 (57) | 6 (60) | .2 |
| Hemoglobin, median (range), g/dL; “N” evaluable = 69 (92%) | 9 (5.8-18.1) | 8.9 (5.8-18.1) | 9.1 (7.5-10.7) | 8.6 (7-10.2) | 10.4 (6.6-11.1) | .5 |
| Platelets, median (range), × 109/L; “N” evaluable = 69 (92%) | 73 (4-1246) | 73 (4-1246) | 80 (24-464) | 143 (10-430) | 69 (14-417) | .9 |
| Platelets < 100 × 109/L, n (%); “N” evaluable = 69 (92%) | 40 (58) | 24 (59) | 7 (54) | 3 (50) | 6 (67) | .9 |
| Leukocytes, median (range), × 109/L; “N” evaluable = 69 (92%) | 18.4 (0.8-130.1) | 12.5 (1.3-90.9) | 23.3 (3.7-130.1) | 17.4 (1.4-66) | 18.7 (0.8-57.4) | .7 |
| Leukocytes > 25 × 109/L, n (%); “N” evaluable = 69 (92%) | 26 (38) | 15 (37) | 6 (46) | 2 (33) | 3 (33) | .9 |
| Circulating blasts %, median (range); “N” evaluable = 70 (93%) | 30 (0-89) | 27 (1-89) | 30 (1-75) | 25 (11-46) | 32 (0-74) | .9 |
| Circulating blasts ≥20%, n (%); “N” evaluable = 70 (93%) | 51 (73) | 30 (73) | 10 (71) | 4 (66) | 7 (78) | .9 |
| BM blasts %, median (range); “N” evaluable = 61 (81%) | 33 (2-91) | 33 (2-91) | 25 (3-72) | 36 (10-68) | 45 (22-90) | .4 |
| BM blasts ≥20%, n (%); “N” evaluable = 61 (81%) | 53 (87) | 31 (84) | 10 (91) | 5 (83) | 7 (100) | .7 |
| ANC, median (range), × 109/L; “N” evaluable = 69 (92%) | 4.4 (0.1-38.7) | 4.4 (0.1-38.7) | 8.6 (0.9-38.3) | 4.6 (0.2-13.4) | 2.9 (0.1-23.5) | .5 |
| AMC, median (range), × 109/L; “N” evaluable = 68 (91%) | 0.5 (0-24.3) | 0.4 (0-18.6) | 0.5 (0-24.3) | 1.2 (0.05-18.5) | 1.1 (0.2-7) | .4 |
| MPN variant, n (%) | .0006 | |||||
| Post-PMF AML | 39 (52) | 22 (51) | 5 (33) | 4 (57) | 8 (80) | |
| Post-ET AML | 20 (27) | 6 (14) | 10 (67) | 2 (29) | 2 (20) | |
| Post-PV AML | 16 (21) | 15 (35) | 0 (0) | 1 (14) | 0 (0) | |
| Karyotype, n (%); “N” evaluable = 62 (83%) | .2 | |||||
| Very high-risk karyotype | 21 (34) | 15 (41) | 3 (30) | 1 (17) | 2 (22) | |
| Unfavorable karyotype | 22 (35) | 13 (35) | 5 (50) | 3 (50) | 1 (11) | |
| Favorable karyotype | 19 (31) | 9 (24) | 2 (20) | 2 (33) | 6 (67) | |
| NGS, n (%) | ||||||
| ASXL1 mutated | 35 (47) | 14 (33) | 9 (60) | 5 (71) | 7 (70) | .04 |
| TET2 mutated | 14 (19) | 9 (21) | 1 (7) | 2 (29) | 2 (20) | .6 |
| TP53 mutated | 12 (16) | 7 (16) | 3 (20) | 1 (14) | 1 (10) | .9 |
| SRSF2 mutated | 10 (13) | 7 (16) | 1 (7) | 2 (29) | 0 (0) | .3 |
| RUNX1 mutated | 13 (17) | 11 (26) | 0 (0) | 1 (14) | 1 (10) | .1 |
| EZH2 mutated | 11 (15) | 4 (9) | 4 (27) | 1 (14) | 2 (20) | .4 |
| IDH1 mutated | 9 (12) | 4 (9) | 3 (20) | 2 (29) | 0 (0) | .2 |
| NRAS mutated | 8 (11) | 4 (9) | 0 (0) | 0 (0) | 4 (40) | .008 |
| SETBP1 mutated | 8 (11) | 4 (9) | 2 (13) | 1 (14) | 1 (10) | .9 |
| SH2B3 mutated | 8 (11) | 5 (12) | 1 (7) | 0 (0) | 2 (20) | .6 |
| PTPN11 mutated | 6 (8) | 3 (7) | 1 (7) | 1 (14) | 1 (10) | .9 |
| IDH2 mutated | 5 (7) | 5 (12) | 0 (0) | 0 (0) | 0 (0) | .3 |
| SF3B1 mutated | 5 (7) | 2 (5) | 2 (13) | 1 (14) | 0 (0) | .4 |
| U2AF1 mutated | 4 (5) | 4 (9) | 0 (0) | 0 (0) | 0 (0) | .4 |
| SUZ12 mutated | 3 (4) | 2 (5) | 0 (0) | 1 (14) | 0 (0) | .4 |
| CBL mutated | 3 (4) | 0 (0) | 1 (7) | 1 (14) | 1 (10) | .2 |
| KRAS mutated | 3 (4) | 2 (5) | 1 (7) | 0 (0) | 0 (0) | .8 |
| JAK1 mutated | 3 (4) | 3 (7) | 0 (0) | 0 (0) | 0 (0) | .5 |
| DNMT3A mutated | 2 (3) | 1 (2) | 0 (0) | 0 (0) | 1 (10) | .4 |
| CEBPA mutated | 2 (3) | 0 (0) | 0 (0) | 2 (29) | 0 (0) | .0002 |
| ETNK1 mutated | 2 (3) | 1 (2) | 1 (7) | 0 (0) | 0 (0) | .7 |
| IKZF1 mutated | 2 (3) | 1 (2) | 1 (7) | 0 (0) | 0 (0) | .7 |
| KIT mutated | 2 (3) | 0 (0) | 1 (7) | 1 (14) | 0 (0) | .1 |
| BCOR mutated | 1 (1) | 0 (0) | 1 (7) | 0 (0) | 0 (0) | .3 |
| TERT mutated | 1 (1) | 0 (0) | 1 (7) | 0 (0) | 0 (0) | .3 |
| JAK3 mutated | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | .9 |
| FLT3 mutated | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | .9 |
| Allogeneic SCT, n (%) | 6 (8) | 4 (10) | 1 (7) | 0 (0) | 1 (10) | .8 |
| Follow-up, median (range), mo | 4.1 (0.5-70.7) | 4.7 (0.6-65.7) | 8.1 (0.5-32.5) | 3.7 (0.6-70.7) | 3.4 (0.5-35.3) | .3 |
| Deaths, n (%) | 74 (99) | 42 (98) | 15 (100) | 7 (100) | 10 (100) | .9 |
Post-PV AML patients (n = 16): post-PV AML without myelofibrosis phase (n = 9); post-PV AML with myelofibrosis phase (n = 7). Post ET-AML patients (n = 20): post-ET AML without myelofibrosis phase (n = 8); post-ET AML with myelofibrosis phase (n = 12). No mutations identified in CSF3R, RUNX2, and DNMT3A. Bold indicates significant values.
AMC, absolute monocyte count; ANC, absolute neutrophil count.