Disease | FAB type | Number of patients (F/M) | Age median (range) | WBC mean (range) | NPM1mut. | FLT3mut. | RUNX1/RUNX1T1 | Karyotype |
---|---|---|---|---|---|---|---|---|
ddPCR-based analysis of NPM1 transcripts at the time of diagnosis | ||||||||
 AML | M0 | 1 (0/1) | 64 | 9.7 | – | – | – | NA (1) |
M1 | 13 (7/6) | 51 (25–65) | 94.8 (1–310.9) | 5 | 2 | – | Aberrant (3) NA (10) | |
M2 | 23 (8/15) | 51 (19–64) | 44.8 (0.5–146.4) | 5 | 3 | 4 | Normal (4) Aberrant (10) NA (41) | |
M3 | 3 (1/2) | 60 (54–67) | 24.8 (7.2–49.1) | 1 | 1 | – | Aberrant (2) NA (1) | |
M4 | 13 (4/9) | 52 (38–75) | 51.8 (1.9–165.2) | 3 | 2 | – | Aberrant (2) NA (11) | |
M5 | 4 (3/1) | 40 (18–57) | 85.6 (35.1–116) | 1 | 1 | – | Aberrant (1) NA (3) | |
 ALL | ALL-B | 8 (3/5) | 42.5 (18–57) | 17.9 (2.1–68.4) | – | – | – | Aberrant (3) NA (5) |
 AML/ALL |  | 1 (1/0) | 55 | 16.4 | – | – | – | Aberrant (1) |
 All patients |  | 66 (27/39) | 50 (18–75) | 36.4 (0.5–310.9) | 15 (10 exclusive) | 9 (4 exclusive) | 6 (4 exclusive) | Normal (4) Aberrant (22) NA (40) |
RNA-seq-based analysis of NPM1 transcripts | ||||||||
 AML-T0 | M1 | 9 (6/3) | 52 (25–65) | 65.1 (14.6–233) | 4 | 1 | – | Normal (1) Aberrant (3) NA (5) |
M2 | 18 (7/11) | 51.5 (19–64) | 37.5 (1.34–146.4) | 3 | 3 | 3 | Aberrant (10) NA (8) | |
 AML-T1 | M2 | 1 (0/1) | 64 | 21.7 | – | – | – | NA (1) |
ddPCR-based analysis of NPM1 transcripts at the three time points | ||||||||
 AML-T0 | M1 (3), M2 (6) | 9 (3/6) | 52 (19–64) | 59.9 (11–129.2) | 2 | 2 | 2 | Aberrant (5) NA (4) |
 AML-T1 | M1 (1), M2 (8) | 9 (3/6) | 56 (20–64) | 17.9 (2.3–35.4) | – | – | – | NA (9) |
 AML-T2 | M1 (3), M2 (4) | 7 (4/3) | 54 (20–65) | 15.9 (6.6–29.9) | 2 | – | 1 | NA (7) |