Clinical features and genetic findings for the patients with t-MN and relapsed APL
Disease type/patient no. . | At APL diagnosis (A) . | Interval from A to B, y . | At relapse or t-MN (B) . | Survival from B, y . | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age, y/sex . | WBCs, ×109/L . | Platelets, ×109/L . | FAB classification . | Karyotype* . | PML-RARA . | Class I mutations† . | FAB classification . | Karyotype* . | PML-RARA . | Other class II abnormalities† . | Class I mutations† . | |||
t-MN with progression to AML | ||||||||||||||
10‡ | 38/F | 1.10 | 17 | M3 | 46,XX[20] | + | − | 5.1 | RAEBt | 45,XX,-7[19]/46,idem,+21[1] | − | RUNX1 D171N | NRAS G12V | 0.8 |
18 | 38/M | 1.10 | 43 | M3 | 46,XY,t(15;17)(q22;q21)[17]/46,XY[3] | + | − | 4.0 | RAEB | 45,XY,-7[3]/46,XY[17] | − | RUNX1 D171G | − | 2.0 |
19 | 35/M | 42.60 | 10 | M3 | 46,XY,t(15;17)(q22;q21)[20] | + | − | 2.4 | RAEBt | 46,XY,t(7;15)(q11;q11),der(12)t(12;17)(p11;q21), t(16;21)(q24;q22),add(17)(q11),add(19)(p13), del(21)(q21)[3]/46,idem,der(18)t(15;18)(q11;p11) [6]/46,XY[11] | − | RUNX1-MTG16 | − | 1.9 |
22 | 48/M | 1.80 | 110 | M3 | 46,XY,t(15;17)(q22;q21)[18]/46,XY[2] | + | − | 9.7 | M0 | 46,XY,add(13)(q32)[19]/46,XY[1] | − | − | − | 0.8 |
48 | 57/F | 4.10 | 16 | M3 | 46,XX,t(15;17)(q22;q21)[19]/46,XX[1] | + | − | 1.4 | M1 | 46,XX,t(6;11)(q21;q23)[16]/46,XX[4] | − | MLL-FOXO3 | − | > 8.7 |
79 | 62/M | 2.20 | 54 | M3 | 46,XY,t(15;17)(q22;q21)[19]/46,XY[1] | + | − | 2.6 | RAEB | 46,XY,add(2)(p23),inv(5)(p11q13), add(11)(q23)[14]/46,idem, inv(2)(p23q11)[4]/47,idem,+13[2] | − | RUNX1 S295fsX571 | − | 1.3 |
83 | 42/M | 1.20 | 144 | M3 | 46,XY,t(15;17)(q22;q21)[17]/46,XY[3] | + | − | 2.5 | RAEB | 45,XY,-7[19]/46,XY[1] | − | RUNX1 G172W | − | 1.7 |
108 | 18/M | 14.40 | 36 | M3 | 46,XY,t(15;17)(q22;q21)[20] | + | − | 1.0 | M4 | 46,XY,t(11;16)(q23;p13.3)[6] /46,XY[14] | − | MLL-CBP | FLT3ITD | 2.6 |
109 | 65/M | 1.68 | 41 | M3 | 46,XY,t(15;17)(q22;q21)[20] | + | − | 1.3 | RAEB | 46,XY[20] | − | CEBPA Q305P | − | 1.7 |
t-MN without progression to AML (t-MDS-RCMD) | ||||||||||||||
7 | 54/F | 4.50 | 6 | M3 | 46,XX,t(15;17)(q22;q21)[20] | + | − | 1.6 | RA | 46,XX,del(20)(q11)[15]/46,XX[5] | − | − | − | > 13.4 |
49 | 67/M | 1.62 | 42 | M3 | 45,X,-Y,t(15;17)(q22;q21), del(14)(q13q22)[18]/46,XY[2] | + | − | 3.0 | RA | 46,XY,del(20)(q1?)[3]/46,XY[17] | − | − | − | > 6.9 |
Relapse | ||||||||||||||
8 | 54/M | 1.30 | 258 | M3 | 46,XY,t(15;17)(q22;q31)[20] | + | − | 3.4 | M3 | 46,XY,add(9)(q22),add(13)(p11), t(15;17)(q22;q21)[3]/46,XY[17] | + | − | − | > 11.4 |
12 | 32/M | 12.67 | 7 | M3 | 46,XY,t(9;X)(p24;q22), t(15;17)(q22;q21)[20] | + | − | 0.6 | M3 | ND | + | − | FLT3ITD | 2.4§ |
13 | 38/M | 95.70 | 35 | M3 | 47,XY,+mar1[17]/46,XY[3] | + | − | 10.1 | M3 | 48,XY,+mar1x2[13]/46,XY[7] | + | − | − | > 3.6 |
17 | 53/F | 4.80 | 52 | M3 | 46,XX[20] | + | − | 2.0 | M3 | 46,XX[20] | + | − | − | > 11.1 |
25 | 58/F | 148.60 | 31 | M3v | 46,XX[20] | + | FLT3ITD | 1.5 | M3v | 46,XX[20] | + | − | FLT3ITD | 0.8 |
38 | 64/F | 15.70 | 27 | M3 | 46,XX,t(15;17)(q22;q21)[20] | + | FLT3ITD | 1.0 | M3 | 46,XX,t(15;17)(q22;q21)[20] | + | − | FLT3ITD | 1.7 |
78 | 39/M | 7.03 | 13 | M3 | 48,XY,+8,+8,t(15;17)(q22;q21)[10]/49,idem,+21[9]/46,XY[1] | + | − | 1.1 | M3 | ND | + | − | − | 0.9‖ |
85 | 19/M | 1.10 | 152 | M3v | 49,XY,t(15;17)(q22;q21),+mar1, +mar2, +mar3[16]/46,XY[4] | + | − | 2.5 | M3v | 49,XY,t(15;17)(q22;q21),+mar1, +mar2, +mar3[15]/46,XY[5] | + | − | − | > 4.2 |
88 | 46/M | 4.60 | 47 | M3 | 46,XY[20] | + | FLT3ITD | 1.8 | M3 | 46,XY[20] | + | − | FLT3ITD | > 4.8 |
95 | 55/M | 44.80 | 21 | M3v | 46,XY,t(15;17)(q22;q31)[20] | + | − | 1.8 | M3v | 46,XY,t(15;17)(q22;q21)[17] /46,XY[3] | + | − | − | > 4.0 |
Disease type/patient no. . | At APL diagnosis (A) . | Interval from A to B, y . | At relapse or t-MN (B) . | Survival from B, y . | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age, y/sex . | WBCs, ×109/L . | Platelets, ×109/L . | FAB classification . | Karyotype* . | PML-RARA . | Class I mutations† . | FAB classification . | Karyotype* . | PML-RARA . | Other class II abnormalities† . | Class I mutations† . | |||
t-MN with progression to AML | ||||||||||||||
10‡ | 38/F | 1.10 | 17 | M3 | 46,XX[20] | + | − | 5.1 | RAEBt | 45,XX,-7[19]/46,idem,+21[1] | − | RUNX1 D171N | NRAS G12V | 0.8 |
18 | 38/M | 1.10 | 43 | M3 | 46,XY,t(15;17)(q22;q21)[17]/46,XY[3] | + | − | 4.0 | RAEB | 45,XY,-7[3]/46,XY[17] | − | RUNX1 D171G | − | 2.0 |
19 | 35/M | 42.60 | 10 | M3 | 46,XY,t(15;17)(q22;q21)[20] | + | − | 2.4 | RAEBt | 46,XY,t(7;15)(q11;q11),der(12)t(12;17)(p11;q21), t(16;21)(q24;q22),add(17)(q11),add(19)(p13), del(21)(q21)[3]/46,idem,der(18)t(15;18)(q11;p11) [6]/46,XY[11] | − | RUNX1-MTG16 | − | 1.9 |
22 | 48/M | 1.80 | 110 | M3 | 46,XY,t(15;17)(q22;q21)[18]/46,XY[2] | + | − | 9.7 | M0 | 46,XY,add(13)(q32)[19]/46,XY[1] | − | − | − | 0.8 |
48 | 57/F | 4.10 | 16 | M3 | 46,XX,t(15;17)(q22;q21)[19]/46,XX[1] | + | − | 1.4 | M1 | 46,XX,t(6;11)(q21;q23)[16]/46,XX[4] | − | MLL-FOXO3 | − | > 8.7 |
79 | 62/M | 2.20 | 54 | M3 | 46,XY,t(15;17)(q22;q21)[19]/46,XY[1] | + | − | 2.6 | RAEB | 46,XY,add(2)(p23),inv(5)(p11q13), add(11)(q23)[14]/46,idem, inv(2)(p23q11)[4]/47,idem,+13[2] | − | RUNX1 S295fsX571 | − | 1.3 |
83 | 42/M | 1.20 | 144 | M3 | 46,XY,t(15;17)(q22;q21)[17]/46,XY[3] | + | − | 2.5 | RAEB | 45,XY,-7[19]/46,XY[1] | − | RUNX1 G172W | − | 1.7 |
108 | 18/M | 14.40 | 36 | M3 | 46,XY,t(15;17)(q22;q21)[20] | + | − | 1.0 | M4 | 46,XY,t(11;16)(q23;p13.3)[6] /46,XY[14] | − | MLL-CBP | FLT3ITD | 2.6 |
109 | 65/M | 1.68 | 41 | M3 | 46,XY,t(15;17)(q22;q21)[20] | + | − | 1.3 | RAEB | 46,XY[20] | − | CEBPA Q305P | − | 1.7 |
t-MN without progression to AML (t-MDS-RCMD) | ||||||||||||||
7 | 54/F | 4.50 | 6 | M3 | 46,XX,t(15;17)(q22;q21)[20] | + | − | 1.6 | RA | 46,XX,del(20)(q11)[15]/46,XX[5] | − | − | − | > 13.4 |
49 | 67/M | 1.62 | 42 | M3 | 45,X,-Y,t(15;17)(q22;q21), del(14)(q13q22)[18]/46,XY[2] | + | − | 3.0 | RA | 46,XY,del(20)(q1?)[3]/46,XY[17] | − | − | − | > 6.9 |
Relapse | ||||||||||||||
8 | 54/M | 1.30 | 258 | M3 | 46,XY,t(15;17)(q22;q31)[20] | + | − | 3.4 | M3 | 46,XY,add(9)(q22),add(13)(p11), t(15;17)(q22;q21)[3]/46,XY[17] | + | − | − | > 11.4 |
12 | 32/M | 12.67 | 7 | M3 | 46,XY,t(9;X)(p24;q22), t(15;17)(q22;q21)[20] | + | − | 0.6 | M3 | ND | + | − | FLT3ITD | 2.4§ |
13 | 38/M | 95.70 | 35 | M3 | 47,XY,+mar1[17]/46,XY[3] | + | − | 10.1 | M3 | 48,XY,+mar1x2[13]/46,XY[7] | + | − | − | > 3.6 |
17 | 53/F | 4.80 | 52 | M3 | 46,XX[20] | + | − | 2.0 | M3 | 46,XX[20] | + | − | − | > 11.1 |
25 | 58/F | 148.60 | 31 | M3v | 46,XX[20] | + | FLT3ITD | 1.5 | M3v | 46,XX[20] | + | − | FLT3ITD | 0.8 |
38 | 64/F | 15.70 | 27 | M3 | 46,XX,t(15;17)(q22;q21)[20] | + | FLT3ITD | 1.0 | M3 | 46,XX,t(15;17)(q22;q21)[20] | + | − | FLT3ITD | 1.7 |
78 | 39/M | 7.03 | 13 | M3 | 48,XY,+8,+8,t(15;17)(q22;q21)[10]/49,idem,+21[9]/46,XY[1] | + | − | 1.1 | M3 | ND | + | − | − | 0.9‖ |
85 | 19/M | 1.10 | 152 | M3v | 49,XY,t(15;17)(q22;q21),+mar1, +mar2, +mar3[16]/46,XY[4] | + | − | 2.5 | M3v | 49,XY,t(15;17)(q22;q21),+mar1, +mar2, +mar3[15]/46,XY[5] | + | − | − | > 4.2 |
88 | 46/M | 4.60 | 47 | M3 | 46,XY[20] | + | FLT3ITD | 1.8 | M3 | 46,XY[20] | + | − | FLT3ITD | > 4.8 |
95 | 55/M | 44.80 | 21 | M3v | 46,XY,t(15;17)(q22;q31)[20] | + | − | 1.8 | M3v | 46,XY,t(15;17)(q22;q21)[17] /46,XY[3] | + | − | − | > 4.0 |
M3v indicates M3 variant; ND, not done; +, positive; and −, negative.
Numbers in square brackets are cell numbers.
Class I mutations include the FLT3 and NRAS mutations, and other class II abnormalities include the chimeric proteins and the RUNX1 and CEBPA mutations.
This patient was reported previously6 (case 8).
This patient died from an accident during the third CR.
This patient refused reinduction therapy and died of cerebral bleeding.