Clinical and laboratory characteristics of patients with MDS or SAA
| Patient . | Age, y/sex . | Diagnosis . | Hgb, g/dL . | WBC, ×109/L . | ANC, ×109/L . | Platelets, ×109/L . | Somatic mutations . | Prior treatment . | Outcome . | Karyotype . | FISH . | BM cellularity, % . | Blasts, % . | Myeloid precursors, % . | Erythroid precursors, % . | Megakaryocytes . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 54/F | SAA→MDS | 11.5 | 2.07 | 1.08 | 25 | Not detected | ATG + CSA, danazol, HSCT | Death | 45,XX,−7[6]/46,XX[14] | N/A | 10 | 1 | 28 | 59 | Reduced number, dysplastic |
| 2 | 6.5/M | Post-hepatitis SAA→MDS | 10.9 | 3.23 | 0.21 | 33 | Not detected | Danazol | Alive | 45,XY,−7[10]/46,XY[10] | del(7q) [28/254]; monosomy 7 [14/254] | 10-15 | 4 | 34 | 38 | Present, atypical |
| 3 | 56/F | Hypocellular MDS-U (IPSS-R low) | 12.8 | 5.25 | 3.2 | 211 | DNMT3A (31.9%, 2.2%), BCOR (2.1%) | Alemtuzumab, CSA | Alive | 46,XX,del(7)(q22q36)[1]/46,XY[19] | del(7q) [32/208] | 15-20 | 1 | 60 | 29 | Reduced number |
| 4 | 59/M | MDS-RAEB 2 (IPSS-R high) | 7.6 | 1.95 | 1.56 | 62 | ASXL1 (16.7%), KRAS (2.2%), SETBP1 (13.8%), U2AF1 (21%) | Alemtuzumab, danazol | Death | 46,XY,dup(1)(q21q32)[3]/46,XY[1] | Trisomy 8 [118/200]; monosomy 7 [35/200]; dup(1q21) [128/200] | 80 | 15 | 50 | 4 | 50% dysplastic |
| 5 | 67/M | SAA→MDS | 15.4 | 4.71 | 2.5 | 188 | Not detected | ATG, CSA | Alive | 47,XY,+8[13]/46,XY[7] | Trisomy 8 [122/260] | 10 | 0 | 43 | 42 | Reduced number, unremarkable morphology |
| Patient . | Age, y/sex . | Diagnosis . | Hgb, g/dL . | WBC, ×109/L . | ANC, ×109/L . | Platelets, ×109/L . | Somatic mutations . | Prior treatment . | Outcome . | Karyotype . | FISH . | BM cellularity, % . | Blasts, % . | Myeloid precursors, % . | Erythroid precursors, % . | Megakaryocytes . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 54/F | SAA→MDS | 11.5 | 2.07 | 1.08 | 25 | Not detected | ATG + CSA, danazol, HSCT | Death | 45,XX,−7[6]/46,XX[14] | N/A | 10 | 1 | 28 | 59 | Reduced number, dysplastic |
| 2 | 6.5/M | Post-hepatitis SAA→MDS | 10.9 | 3.23 | 0.21 | 33 | Not detected | Danazol | Alive | 45,XY,−7[10]/46,XY[10] | del(7q) [28/254]; monosomy 7 [14/254] | 10-15 | 4 | 34 | 38 | Present, atypical |
| 3 | 56/F | Hypocellular MDS-U (IPSS-R low) | 12.8 | 5.25 | 3.2 | 211 | DNMT3A (31.9%, 2.2%), BCOR (2.1%) | Alemtuzumab, CSA | Alive | 46,XX,del(7)(q22q36)[1]/46,XY[19] | del(7q) [32/208] | 15-20 | 1 | 60 | 29 | Reduced number |
| 4 | 59/M | MDS-RAEB 2 (IPSS-R high) | 7.6 | 1.95 | 1.56 | 62 | ASXL1 (16.7%), KRAS (2.2%), SETBP1 (13.8%), U2AF1 (21%) | Alemtuzumab, danazol | Death | 46,XY,dup(1)(q21q32)[3]/46,XY[1] | Trisomy 8 [118/200]; monosomy 7 [35/200]; dup(1q21) [128/200] | 80 | 15 | 50 | 4 | 50% dysplastic |
| 5 | 67/M | SAA→MDS | 15.4 | 4.71 | 2.5 | 188 | Not detected | ATG, CSA | Alive | 47,XY,+8[13]/46,XY[7] | Trisomy 8 [122/260] | 10 | 0 | 43 | 42 | Reduced number, unremarkable morphology |
Somatic mutations were detected using a commercial panel of 54 genes associated with myeloid neoplasms (supplemental Table 3). Allele fraction of mutations is listed in the brackets after a gene name. Patient 3: DNMT3A Lys826Arg, DNMT3A Arg771Ter, and BCOR Arg976Ter. Patient 4: ASXL1 Met837LeufsTer2, KRAS G12Y, SETBP1 Asp868Asn, and U2AF1 Gln157Arg. CD34+Lin(CD3CD14CD19)− cells or CD34−Lin(CD3CD14CD19)− cells were used for fluorescence in situ hybridization (FISH) test. CD34+CD117+Lin− blasts from patient 4 were also examined by FISH, which showed monosomy 7 [171/200]; del(7q) [27/200].
ANC, absolute neutrophil count; ATG, antithymocyte globulin; CSA, cyclosporine; Hgb, hemoglobin; HSCT, HSC transplantation; IPSS-R, International Prognostic Scoring System–Revised; MDS-U, MDS unclassified; N/A, not available; RAEB 2, refractory anemia with excess blasts 2; SAA, severe AA; WBC, white blood cell.