Characteristics of healthy volunteers, MDS patients, and AML patients
| Sample no. . | Age, y . | Sex . | Diagnosis . | Cytogenetic analysis . | No. of cytopenias . | Risk group according to IPSS . |
|---|---|---|---|---|---|---|
| 1 | 53 | F | Normal* | 46, XX | — | — |
| 2 | 48 | M | Normal | 46, XY | — | — |
| 3 | 57 | M | Normal | 46, XY | — | — |
| 4 | 65 | M | Normal | 46, XY | — | — |
| 5 | 38 | M | Normal | 46, XY | — | — |
| 6 | 35 | M | Normal | 46, XY | — | — |
| 7 | 84 | F | RA† | 46, XX | 1 | Low |
| 8 | 76 | F | RA | del(5q) | 1 | Low |
| 9 | 78 | F | RA | 46, XX | 1 | Low |
| 10 | 51 | M | RA | del(5q) | 2 | Int-1 |
| 11 | 75 | M | RA | −y | 2 | Int-1 |
| 12 | 69 | M | RARS‡ | del(20q) | 1 | Low |
| 13 | 66 | F | RARS | 46, XX | 1 | Low |
| 14 | 77 | M | CMML | 46, XY | 1 | — |
| 15 | 77 | F | RAEB§-1 | del(11q) | 2 | Int-2 |
| 16 | 60 | F | RAEB-1 | inv(16) | 1 | Int-2 |
| 17 | 58 | M | RAEB-2 | Complex# with del(5q) | 2 | High |
| 18 | 78 | M | RAEB-2 | Complex with del(5q) | 2 | High |
| 19 | 67 | M | RAEB-2 | Complex with −7, +8 | 3 | High |
| 20 | 58 | M | RAEB-2 | −7 | 2 | High |
| 21 | 78 | M | RAEB-2 | 46, XY | 2 | Int-2 |
| 22 | 66 | M | tAML‖ | 46, XY | — | — |
| 23 | 80 | M | sAML¶ | Complex | — | — |
| 24 | 81 | M | sAML | del(9p), NPM-1 WT** | — | — |
| 25 | 80 | F | sAML | Trisomy 8 | — | — |
| 26 | 46 | F | AML | 46, XX, NPM-1 ITD†† | — | — |
| 27 | 56 | M | AML | 46, XY, NPM-1 WT | — | — |
| 28 | 52 | M | AML | 46, XY, NPM-1 WT | — | — |
| 29 | 23 | F | AML | 46, XX, NPM-1 WT | — | — |
| 30 | 73 | F | AML | 46, XX, NPM-1 WT | — | — |
| 31 | 79 | F | AML | Complex, NPM-1 WT | — | — |
| Sample no. . | Age, y . | Sex . | Diagnosis . | Cytogenetic analysis . | No. of cytopenias . | Risk group according to IPSS . |
|---|---|---|---|---|---|---|
| 1 | 53 | F | Normal* | 46, XX | — | — |
| 2 | 48 | M | Normal | 46, XY | — | — |
| 3 | 57 | M | Normal | 46, XY | — | — |
| 4 | 65 | M | Normal | 46, XY | — | — |
| 5 | 38 | M | Normal | 46, XY | — | — |
| 6 | 35 | M | Normal | 46, XY | — | — |
| 7 | 84 | F | RA† | 46, XX | 1 | Low |
| 8 | 76 | F | RA | del(5q) | 1 | Low |
| 9 | 78 | F | RA | 46, XX | 1 | Low |
| 10 | 51 | M | RA | del(5q) | 2 | Int-1 |
| 11 | 75 | M | RA | −y | 2 | Int-1 |
| 12 | 69 | M | RARS‡ | del(20q) | 1 | Low |
| 13 | 66 | F | RARS | 46, XX | 1 | Low |
| 14 | 77 | M | CMML | 46, XY | 1 | — |
| 15 | 77 | F | RAEB§-1 | del(11q) | 2 | Int-2 |
| 16 | 60 | F | RAEB-1 | inv(16) | 1 | Int-2 |
| 17 | 58 | M | RAEB-2 | Complex# with del(5q) | 2 | High |
| 18 | 78 | M | RAEB-2 | Complex with del(5q) | 2 | High |
| 19 | 67 | M | RAEB-2 | Complex with −7, +8 | 3 | High |
| 20 | 58 | M | RAEB-2 | −7 | 2 | High |
| 21 | 78 | M | RAEB-2 | 46, XY | 2 | Int-2 |
| 22 | 66 | M | tAML‖ | 46, XY | — | — |
| 23 | 80 | M | sAML¶ | Complex | — | — |
| 24 | 81 | M | sAML | del(9p), NPM-1 WT** | — | — |
| 25 | 80 | F | sAML | Trisomy 8 | — | — |
| 26 | 46 | F | AML | 46, XX, NPM-1 ITD†† | — | — |
| 27 | 56 | M | AML | 46, XY, NPM-1 WT | — | — |
| 28 | 52 | M | AML | 46, XY, NPM-1 WT | — | — |
| 29 | 23 | F | AML | 46, XX, NPM-1 WT | — | — |
| 30 | 73 | F | AML | 46, XX, NPM-1 WT | — | — |
| 31 | 79 | F | AML | Complex, NPM-1 WT | — | — |
— indicates not applicable.
Healthy volunteer.
Patient with refractory anemia.
Patient with refractory anemia with ringsideroblasts.
Patient with refractory anemia with excess of blasts (5%-9%, RAEB-1; 10%-19%, RAEB-2).
Patient with therapy-related AML.
Patient with secondary AML.
Complex karyotype was defined as 3 or more cytogenetic abnormalities.
Wild-type NPM-1.
Internal tandem duplication of NPM-1.