Table 1.
Diagnosis and characteristics of MDS study cohort.
| Patient ID | Risk Classification | BM Histopathology | Hematopoietic Karyotype | Mesenchymal Karyotype | Hematopoietic FISH panel | Blasts | Classification |
|---|---|---|---|---|---|---|---|
| 150 | Low | Not performed | Not performed | — | Not performed | 0% | RARS |
| 285 | Low | Normocellular marrow for patient’s age (20-30%) Stromal changes: Hemoserous changes seen | 46,XX[20] | — | Not performed | 1% | UNCLASSIFIED |
| 290 | Low | Normocellular marrow for patient’s age (20-30%) Stromal changes: None | 46,XY[20] | — | Negative | 0% | RARS |
| 364 | Low | Hypercellular marrow for patient’s age (40-50%) Stromal changes: Storage iron is noted focally and may be increased | 45,XY,-18,der(20)t(18;20)(q11.2;q13.2)[18]/ 46,idem, + der(20)t(18;20)(q11.2;q13.2)[2] | — | Not performed | 1% | RARS |
| 378 | Low | Hypercellular marrow for patient’s age (85%) Stromal changes: None | 44,XY,add(1)(p13),add(4)(q21),-5,der(6)t(1;6)(p13;q27), -7,add(12)(p11.2)[cp6]/46,idem,-add(12)(p11.2), + 12, + mar1[cp2]/45,XY,add(1)(p13),add(3)(p12),-5, der(6)t(1;16)(p13;q27),-7,-21, + mar2, + mar3, + mar4[6]/ 45,XY,add(1)(p13),-5,der(6)t(1;6)(p13;q27),add(7)(q22), -10, + mar5[cp4]/(46,XY[2] | — | Not performed | 2% | RCMD |
| 419 | Low | Hypercellular marrow for patient’s age (60-70%) Stromal changes: None | 46,XY[20] | — | Not performed | 0% | RARS |
| 482 | Low | Hypocellular marrow for patient’s age (25%) Stromal changes: None Reticulin: 1/ + 4, normal | 46,XY,i(17)(q10)[19]/46,XY[1] | — | Negative | 5% | UNCLASSIFIED |
| 582 | Low | Hypercellular marrow for patient’s age (80-90%) Stromal changes: Haemoserous exudate Reticulin: 1 + /4, normal, focal, fine fibre pattern | 46,XY[20] | — | Not performed | 0% | RARS |
| 739 | Low | Hypercellular marrow for patient’s age (50%) Stromal changes: None Reticulin: 1 + /4, normal | 46,XY[20] | — | Negative | 0% | RCUD |
| 801 | Low | Hypercellular marrow for patient’s age (80-90%) Stromal changes: Focal fibrosis with increased storage iron Reticulin: 1 + /4, normal | 46,X,i(X)(p10)[8]/47,idem, + i(X)(p10)[cp2]/46,XX[10] | — | Negative | 0% | RARS |
| 819 | Low | Normocellular marrow for patient’s age (20-30%) Stromal changes: None Reticulin: 1 + /4, normal | 47,XY, + 8[cp13]/46,XY[7] | — | Positive | 3% | RCUD |
| 261 | High | Hypercellular marrow for patient’s age (60%) Stromal changes: None Reticulin: 1 + /3, increased fibrosis | 46,XX,del(1)(p32p34),add(2)(p13),del(5)(q13q35),add(20) (q11.2)[3]/45,idem,-7,del(12)(p11.2)[cp14]/46,XX[2] | 45,XX,-22[7]/46,idem, + mar[7]/46,XX[6] | Negative | 13% | RAEB2 |
| 305 | High | Hypercellular marrow for patient’s age (80-90%) Stromal changes: None Reticulin: 1 + /4, normal | 46,XX[20] | 46,XX[20] | Not performed | 12% | RAEB2 |
| 325 | High | Normocellular marrow for patient’s age (80-90%) Stromal changes: None Reticulin: 2 + /4, moderate increase fibrosis | 45~46,XX,add(5)(q11.2),-7,-12,der(21)t(12:21)(q11:p13), + r, + mar[cp16]/46,XX[4] | 46,XX[20] | Not performed | 10% | RAEB1 |
| 400 | High | Hypercellular marrow for patient’s age (80-90%) Stromal changes: Haemoserous exudate Reticulin: 1 + /4, normal | 46,XY[20] | 46,XY[20] | Not performed | 13% | RAEB2 |
| 455 | High | Hypercellular marrow for patient’s age (70%) Stromal changes: None Reticulin: 2 + /4, normal | 46,XY, + 1,der(1;15)(q10;q10)[3]/46,XY[17] | 46,XY[20] | Negative | 7% | RAEB1 |
| 613 | High | Hypercellular marrow for patient’s age (70%) Stromal changes: There is mild increase in reticulin, featuring a diffuse network of fine reticulin fibres. No stromal collagenosis or necrosis. Reticulin: 2/4 | 46,XY, + 1,der(1;15)(q10;q10)[2]/46,XY,dup(1)(q21q31)[3] /46,XY[15] | 46,XY[20] | Not performed | 8% | RAEB1 |
| 627 | High | Hypercellular marrow for patient’s age (60%) Stromal changes: None Reticulin: 0 + /4, normal | 46,XX[20] | 46,XX[20] | Negative | 8% | RAEB1 |
| 717 | High | Hypercellular marrow for patient’s age (40-50%) Stromal changes: Lysis and edema Reticulin: 1 + /4, normal | 46,XY[20] | 46,XY[20] | Negative | 8% | RAEB1 |
| 768 | High | Hypercellular marrow for patient’s age (70-80%) Stromal changes: None Reticulin: 1 + /4, normal | 48,XY, + 1,del(5)(q22q35), + 11[20] | 46,XY[9] | Positive | 6% | RAEB1 |
| 775 | High | Hypercellular marrow for patient’s age (90%) Stromal changes: None Reticulin: 3 + /4, increased | 44~46,XY,add(3)(q12),-5,-6,der(7;11)(p10;q10), + 11,-17, + 19,-20,-22, + 4~5mar[cp3]/45~47,XY,-5, + 6, der(6)del(6)(p23p25)add(6)(q13),-7,-11, + 17, add(17)(p11.2), + 19,del(19)(p13.3)x2,-20, + 22, add(22)(p11.2),add(22)(p11.2), + 1~5mar[cp14]/46,XY[2] | 46,XY[20] | Positive | 6% | RAEB1 |