Clinical feature of cytogenetic evolution in AA
| . | Time to evolution (mo) . | First abnormal karyotype . | BM cellularity . | BM morphology . | Counts at conversion . | FAB . | Outcome . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| ANC × 103/μL . | Hemoglobin g/dL . | Reticulocytes × 103/μL . | Platelets × 103/μL . | |||||||
| 1 | 58 | 45,XY,−7[20] | Hypo | L-shift, dyserythopoiesis | 320 | 9.1 | 19.7 | 9 | RAEB | Transfusion-dependent for red cells and platelets |
| 2 | 20 | 45,XY,−7[20] | Hypo | Megakaryocytes increased | 500 | 8 | 20.3 | 80 | RAEBt | Temporary remission after chemotherapy |
| 3 | 72 | 45,XY,−7[20] | Mixed | L-shift, dysplastic megakaryocytes | 250 | 13 | 51 | 129 | RAEB | MUD |
| 4 | 14 | 45,XY,−7[19]/46,XY[1] | Hypo | Megakaryocytes absent | 850 | 7.4 | 53 | 8 | RA | Expired |
| 5 | 30 | 46,XX,t(2;3)(p23;q29)[2]/45XX, idem,−7[20] | Normo | L-shift, dysplastic megakaryocytes | 340 | 8.5 | 60 | 135 | AML | Expired |
| 6 | 97 | 45,XY,−7[14]/46,XY,−7, +mar[7] | Normo | Myeloid dysplasia | 390 | 8.5 | 37 | 5 | AML | Expired |
| 7 | 53 | 45,XY,−7[13]/45,idem, del(12)(p12p13)[8] | Mixed | L-shift megakaryocytes decreased | 160 | 9.4 | 12.6 | 15 | AML | Expired |
| 8 | 28 | 45,XY,−7[20] | Mixed | Dysplastic megakaryocytes | 730 | 11.4 | 30.9 | 28 | RAEB | Expired |
| 9 | 7 | 47,XX,+8[3]/46,XX[14] | Hyper | Dysplastic megakaryocytes | 900 | 8 | 45 | 20 | RA | Partial hematologic remission |
| 10 | 13 | 45,XY,−7[20] | Hyper | No dysplasia | 550 | 7.5 | 18 | 22 | RAEBt | MUD, expired |
| 11 | 48 | 46,XX,+1,der(1;7) (q10p10)[14]/46,XX[6] | Normo | L-shift, dysplasia | 600 | 7 | 10 | 7 | RAEBt | MUD |
| 12 | 34 | 91,XXYY,−16[8]/91,XXYY, del(6)(q15q25),−16[3]/ 92,XXYY,del(6)(q15q25)[2]/ 92,XXYY,del(5) | Hyper | L-shift | 340 | 9.3 | 41 | 21 | AML | MUD |
| 13 | 5 | 47,XY,+8[18]/46,XY[2] | Mixed | Normal | 1760 | 12 | 37 | 110 | RA | CsA-dependent counts |
| 14 | 38 | 47,XY,+8[20] | Normo | Normal | 3300 | 13 | 90 | 130 | RA | CsA-dependent counts |
| 15 | 51 | 46,XX,del(13)(q12q14)[21]/ 46,XX[4] | Hyper | Megaloblastic changes | 2650 | 11.6 | 138 | 53 | RA | Stable counts |
| 16 | 6 | 45,X,−Y[5]/46,XY[15] | Hypo | L-shift | 2450 | 8.8 | 63 | 35 | RA | Expired |
| 17 | 11 | 47,XX,+8[8]/45,XX,−5[3]/46, XX[39] | Hypo | L-shift, megaloblastic changes | 1800 | 9.9 | 78 | 41 | RA | GF therapy |
| 18 | 39 | 45,X,−Y[14] | Normo | L-shift | 2000 | 8.6 | 107 | 37 | RA | CsA-dependent counts |
| 19 | 25 | 46,XY,del(13)(q12q14)[3]/46, XY[17] | Normo | Normal | 1900 | 10 | 63 | 118 | RA | Stable counts |
| 20 | 84 | 48,XXXc,+8[5]/47,XXXc[15] | Hypo | Megablastoid changes | 1850 | 11 | 34 | 90 | RA | CsA-dependent counts |
| 21 | 17 | 46,XY,del20(q11.2q13.2)[9]/46, XY[41] | Hypo | No dysplasia | 1600 | 12 | 67 | 80 | RA | Stable counts |
| 22 | 116 | 47,XX,add(X)(p22.3),add(3) (q26.2),+21 | Mixed | L-shift | 520 | 12 | 123 | 89 | AML | Expired |
| 23 | 34 | 46,XX,del(13)(q12q14)[4]/ 46,XX[16] | Hyper | L-shift | 1206 | 8 | NA | 8 | RAEB | Transfusion-dependent for red cells and platelets |
| 24 | 126 | 45,XY,−7[7]/46,XY[13] | Mixed | Myeloid dysplasia | 697 | 7 | 7 | 9 | RAEBt | MUD |
| 25 | 84 | 46,XX,del(17)(p11.2p13.1)[5]/ 46,XX[47] | Mixed | L-shift, dysplastic megakaryocytes | 1500 | 12 | 86 | 69 | RA | Stable counts |
| 26 | 20 | 46,XX,del(13)(q12q14)[4]/46, XX[16] | Mixed | Normal | 1052 | 7.9 | 20 | 20 | RA | CsA |
| 27 | 25 | 47,XY,+8[4]/46,XY[16] | Hypo | Normal | 2700 | 11 | 69 | 56 | RA | CsA-dependent counts |
| 28 | 28 | 47,XY,+8[20] | Hyper | Dysplastic megakaryocytes | 2290 | 15 | NA | 155 | RA | Stable remission |
| 29 | 8 | 47,XY,del(7)(p13p22)[3]/46, XY[17] | Hypo | Normal | 1350 | 15 | 47 | 48 | RA | CsA-dependent counts |
| 30 | 8 | 47,XY,+6[3]/46,46,XY[18] | Hypo | Normal, decreased megakaryocytes | 1350 | 8 | 20 | 10 | RA | Transfusion-dependent for red cells and platelets |
| . | Time to evolution (mo) . | First abnormal karyotype . | BM cellularity . | BM morphology . | Counts at conversion . | FAB . | Outcome . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| ANC × 103/μL . | Hemoglobin g/dL . | Reticulocytes × 103/μL . | Platelets × 103/μL . | |||||||
| 1 | 58 | 45,XY,−7[20] | Hypo | L-shift, dyserythopoiesis | 320 | 9.1 | 19.7 | 9 | RAEB | Transfusion-dependent for red cells and platelets |
| 2 | 20 | 45,XY,−7[20] | Hypo | Megakaryocytes increased | 500 | 8 | 20.3 | 80 | RAEBt | Temporary remission after chemotherapy |
| 3 | 72 | 45,XY,−7[20] | Mixed | L-shift, dysplastic megakaryocytes | 250 | 13 | 51 | 129 | RAEB | MUD |
| 4 | 14 | 45,XY,−7[19]/46,XY[1] | Hypo | Megakaryocytes absent | 850 | 7.4 | 53 | 8 | RA | Expired |
| 5 | 30 | 46,XX,t(2;3)(p23;q29)[2]/45XX, idem,−7[20] | Normo | L-shift, dysplastic megakaryocytes | 340 | 8.5 | 60 | 135 | AML | Expired |
| 6 | 97 | 45,XY,−7[14]/46,XY,−7, +mar[7] | Normo | Myeloid dysplasia | 390 | 8.5 | 37 | 5 | AML | Expired |
| 7 | 53 | 45,XY,−7[13]/45,idem, del(12)(p12p13)[8] | Mixed | L-shift megakaryocytes decreased | 160 | 9.4 | 12.6 | 15 | AML | Expired |
| 8 | 28 | 45,XY,−7[20] | Mixed | Dysplastic megakaryocytes | 730 | 11.4 | 30.9 | 28 | RAEB | Expired |
| 9 | 7 | 47,XX,+8[3]/46,XX[14] | Hyper | Dysplastic megakaryocytes | 900 | 8 | 45 | 20 | RA | Partial hematologic remission |
| 10 | 13 | 45,XY,−7[20] | Hyper | No dysplasia | 550 | 7.5 | 18 | 22 | RAEBt | MUD, expired |
| 11 | 48 | 46,XX,+1,der(1;7) (q10p10)[14]/46,XX[6] | Normo | L-shift, dysplasia | 600 | 7 | 10 | 7 | RAEBt | MUD |
| 12 | 34 | 91,XXYY,−16[8]/91,XXYY, del(6)(q15q25),−16[3]/ 92,XXYY,del(6)(q15q25)[2]/ 92,XXYY,del(5) | Hyper | L-shift | 340 | 9.3 | 41 | 21 | AML | MUD |
| 13 | 5 | 47,XY,+8[18]/46,XY[2] | Mixed | Normal | 1760 | 12 | 37 | 110 | RA | CsA-dependent counts |
| 14 | 38 | 47,XY,+8[20] | Normo | Normal | 3300 | 13 | 90 | 130 | RA | CsA-dependent counts |
| 15 | 51 | 46,XX,del(13)(q12q14)[21]/ 46,XX[4] | Hyper | Megaloblastic changes | 2650 | 11.6 | 138 | 53 | RA | Stable counts |
| 16 | 6 | 45,X,−Y[5]/46,XY[15] | Hypo | L-shift | 2450 | 8.8 | 63 | 35 | RA | Expired |
| 17 | 11 | 47,XX,+8[8]/45,XX,−5[3]/46, XX[39] | Hypo | L-shift, megaloblastic changes | 1800 | 9.9 | 78 | 41 | RA | GF therapy |
| 18 | 39 | 45,X,−Y[14] | Normo | L-shift | 2000 | 8.6 | 107 | 37 | RA | CsA-dependent counts |
| 19 | 25 | 46,XY,del(13)(q12q14)[3]/46, XY[17] | Normo | Normal | 1900 | 10 | 63 | 118 | RA | Stable counts |
| 20 | 84 | 48,XXXc,+8[5]/47,XXXc[15] | Hypo | Megablastoid changes | 1850 | 11 | 34 | 90 | RA | CsA-dependent counts |
| 21 | 17 | 46,XY,del20(q11.2q13.2)[9]/46, XY[41] | Hypo | No dysplasia | 1600 | 12 | 67 | 80 | RA | Stable counts |
| 22 | 116 | 47,XX,add(X)(p22.3),add(3) (q26.2),+21 | Mixed | L-shift | 520 | 12 | 123 | 89 | AML | Expired |
| 23 | 34 | 46,XX,del(13)(q12q14)[4]/ 46,XX[16] | Hyper | L-shift | 1206 | 8 | NA | 8 | RAEB | Transfusion-dependent for red cells and platelets |
| 24 | 126 | 45,XY,−7[7]/46,XY[13] | Mixed | Myeloid dysplasia | 697 | 7 | 7 | 9 | RAEBt | MUD |
| 25 | 84 | 46,XX,del(17)(p11.2p13.1)[5]/ 46,XX[47] | Mixed | L-shift, dysplastic megakaryocytes | 1500 | 12 | 86 | 69 | RA | Stable counts |
| 26 | 20 | 46,XX,del(13)(q12q14)[4]/46, XX[16] | Mixed | Normal | 1052 | 7.9 | 20 | 20 | RA | CsA |
| 27 | 25 | 47,XY,+8[4]/46,XY[16] | Hypo | Normal | 2700 | 11 | 69 | 56 | RA | CsA-dependent counts |
| 28 | 28 | 47,XY,+8[20] | Hyper | Dysplastic megakaryocytes | 2290 | 15 | NA | 155 | RA | Stable remission |
| 29 | 8 | 47,XY,del(7)(p13p22)[3]/46, XY[17] | Hypo | Normal | 1350 | 15 | 47 | 48 | RA | CsA-dependent counts |
| 30 | 8 | 47,XY,+6[3]/46,46,XY[18] | Hypo | Normal, decreased megakaryocytes | 1350 | 8 | 20 | 10 | RA | Transfusion-dependent for red cells and platelets |
RA indicates refractory anemia; MUD, matched unrelated donor transplant.