Characteristics, multiplex reverse transcriptase–polymerase chain reaction results, and cytogenetic data of 67 cases of childhood acute myeloblastic leukemia
| Case . | Age (y) . | Sex . | FAB . | Multiplex RT-PCR . | Fusion transcript . | Karyotype . |
|---|---|---|---|---|---|---|
| 1 | 0.2 | M | AUL | neg | 46,XY,t(X;8)(p11;q23)[30] | |
| 2 | 14.0 | M | AUL | ND | 46,XX,del(5)(q13q33)[20]* | |
| 3 | 10.4 | M | M0 | MLL/AF4 | MLLex7/AF4(1414) | 48,XX,t(4;11)(q21;q23),+4,+mar[1]/48,XX,idem,−4,+der(4)t(4;11)(q21;q23)[19] |
| 4 | 0.5 | F | M0 | neg | 46,XX[3]/46,XX,t(6;X)(q22;p22)[17] | |
| 5 | 1.0 | F | M0 | neg | 46,XX,t(X;17)(p21;q11),r(6p)[15] | |
| 6 | 1.4 | F | M0 | neg | 48,XX,+8,+21c[20] | |
| 7 | 2.9 | M | M0 | neg | 45,XY,−7[40] | |
| 8 | 1.3 | M | M0 | ND | ND | |
| 9 | 0.01 | F | M1 | neg | 46,XX[5]/47,XX,+21[15] | |
| 10 | 6.4 | M | M1 | neg | 46,XY[13]/47,XY,+?del(19)(p13),del(2)(q13-14),inc[cp11] | |
| 11 | 0.3 | M | M1 | neg | 47,XY,+der(19)[40]† | |
| 12 | 9.0 | M | M2 | AML1/MGT8 | 46,XY[4]/46,XY,t(8;21)(q22;q22)[16] | |
| 13 | 7.8 | M | M2 | AML1/MGT8 | 45,X,−Y,t(8;21)(q22;q22)[5] | |
| 14 | 11.7 | M | M2 | AML1/MGT8 | 46,XY[1]/45,X,−Y,t(8;21)(q22;q22)[15] | |
| 15 | 10.1 | M | M2 | AML1/MGT8 | 45,X,−Y,t(8;21)(q22;q22)[20] | |
| 16 | 3.8 | M | M2 | AML1/MGT8 | 45,X,−Y,t(8;21)(q22;q22)[20] | |
| 17 | 4.3 | F | M2 | AML1/MGT8 | 46,XX,t(8;21)(q22;q22)[20] | |
| 18 | 7.9 | F | M2 | AML1/MGT8 | 46,XX,t(8;21)(q22;q22)[17] | |
| 19 | 8.4 | F | M2 | MLL/ELL | MLLex7/ELL | 46,XX,t(11;19)(q23;p13)[10] |
| 20 | 12.1 | M | M2 | neg | 46,XY,del(5)(q14q34)[15]/45,idem,−Y[15] | |
| 21 | 15.2 | F | M2 | neg | 46,XX[15] | |
| 22 | 12.0 | F | M2 | neg | 46,XX[40] | |
| 23 | 15.8 | F | M2 | neg | 46,XX[20] | |
| 24 | 14.4 | F | M2 | neg | 46,XX[20] | |
| 25 | 3.0 | F | M2 | neg | 46,XX[19] | |
| 26 | 4.0 | M | M2 | neg | 46,XY[20] | |
| 27 | 9.6 | F | M2 | ND | ND | |
| 28 | 3.2 | F | M3 | PML/RARA | PMLex6/RARAex2 | 46,XX,t(15;17)(q22;q21)[20] |
| 29 | 13.8 | F | M3 | PML/RARA | PMLex6/RARAex2 | 46,XX[3]/46,XX,t(15;17)(q22;q21)[17] |
| 30 | 12.2 | M | M3 | PML/RARA | PMLex6/RARAex2 | 46,XY,t(4;9)(q31;q34)t(15;17)(q22;q21)[16] |
| 31 | 1.8 | M | M3V | PML/RARA | PMLex6/RARAex2 | 46,XY,t(15;17)(q22;q12),del(17)(p11),t(17;17)(q11;p13)[30] |
| 32 | 10.3 | F | M3V | PML/RARA | PMLex6/RARAex2 | 46,XX,t(15;17)(q22;q21)[20] |
| 33 | 14.0 | F | M4 | MLL/AF6 | MLLex7/AF6 | 46,XX[20] |
| 34 | 12.7 | F | M4 | MLL/AF6 | MLLex6/AF6 | 46,XX[6]/46,del(11)(q23)[20]/46,XX,idem,del(9)(q22),[2] |
| 35 | 1.8 | F | M4 | MLL/AF1q | MLLex6/AF1q | 46,XX[2]/46,XX,t(1;11)(q21;q23),t(12;12)(q13;p12)[18] |
| 36 | 11.9 | M | M4 | CBFB/MYH11 | type A | 46,XY,inv(16)(p13q22),t(16;17)(p10;q10)[20] |
| 37 | 0.8 | M | M4 | neg | MLL/? | 46,XY,der(11)add(11)(q23)[20]‡ |
| 38 | 8.8 | M | M4 | neg | MLL/? | 54,XY,+Y,+6,+7,+8,+8,t(11;17)(q23;q25),+19,+20,+21[20] |
| 39 | 2.1 | F | M4 | neg | MLL/? | 46,XX,t(11;17)(q23;q21)[20] |
| 40 | 12.2 | F | M4 | neg | 46,XX[23]/46,XX,t(3;5)(q26;q13-14)[2] | |
| 41 | 13.4 | M | M4 | neg | 46,XY[8]/45,X−Y[1]90,idemx2[10] | |
| 42 | 16.2 | M | M4 | neg | 46,XY[2]/46,XY,t(7;14)(p15;q32)[19] | |
| 43 | 1.2 | M | M4 | neg | MLL/new gene | 46,XY[13]/46,XY,inv(11)(q12q23)[7]1-153 |
| 44 | 2.8 | M | M4 | ND | 46,XY[17]/46,XY,inv(8)(p11q13)[3] | |
| 45 | 11.5 | M | M4 | ND | 46,XY[9]/46,XY,del(5)(q13q31),t(7;11)(p15;p12)[9] | |
| 46 | 2.0 | F | M4Eo | CBFB/MYH11 | type A | 46,XX[12]/47,XX,+8[2]/46,XX,inv(16)(p13q22)[6] |
| 47 | 11.9 | M | M4Eo | ND | 46,XY,inv(16)(p13q22),t(15;16)(q22;p13)inv(16)(p13q22)[20] | |
| 48 | 14.0 | M | M5a | MLL/AF9 | MLLex6/AF9A | 46,XY,t(9;11)(p21;q23)[4]/46,XY,idem,del(13)(q14)[16] |
| 49 | 16.4 | F | M5a | MLL/AF9 | MLLex6/AF9B | 46,XX,t(9;11)(p21;q23)[20] |
| 50 | 14.6 | M | M5a | MLL/AF9 | MLLex7/AF9A | 46,XY,t(9;11)(p21;q23)[20] |
| 51 | 4.5 | M | M5a | MLL/AF9 | MLLex7/AF9A | 47,XY,t(9;11)(p21;q23),+8[20] |
| 52 | 7.3 | M | M5a | MLL/AF10 | MLLex6/AF10(883) | 46,XY[2]/46,XY,t(10;11)(p12;q23),t(10;12)(q24;p13)[2]/47,XY,idem,+del(1)(p13)[16] |
| 53 | 10.8 | F | M5b | neg | 46,XX[25] | |
| 54 | 6.0 | M | M6 | neg | 46,XY[3]/46-48,XY,inv(1)(p21p31),+del(1)(q21),der(1)t(1;8)(p13;q10),−6,−7,del(7)(q33), del(8)(q12),−9,−10,−21,+r,+1−3mar[cp13] | |
| 55 | 0.8 | M | M7 | neg | 46,XY[20] | |
| 56 | 1.9 | M | M7 | neg | 48,XY,del(6)(q21q24),+21,+21c[20] | |
| 57 | 0.7 | M | M7 | neg | 47,XY,t(1;22)(p13;q13.1),t(3;19)(p23;p13),t(3;15)(q22;q22),+19[8]/46,XY,idem,−20[2] | |
| 58 | 1.7 | F | M7 | neg | 47,XX,inv(9)(p11q13)c,+21c[1]/47,XX,idem,der(4)t(1;4)(q23;p15),[17]/47,XX,idem,iso(7)(q10)[2] | |
| 59 | 1.4 | F | M7 | neg | 47,XX,+21c[7]/47,XX,der(7)t(1;7)(q22;p22),+21c[11]/47,XX,dup(1)(q22q44),+21c[2] | |
| 60 | 1.2 | M | M7 | neg | 47,XY,t(2;4)(q37;q28),+21c[20] | |
| 61 | 1.9 | M | M7 | neg | 47,XY,+21c[18]/48,XY,+8,+21c[1]/49,XY,+8,+12,+21c[1] | |
| 62 | 1.9 | M | M7 | neg | 47,XY,+21c[16]/48,XY,+8,+21c[4] | |
| 63 | 1.3 | F | M7 | neg | 47,XX,+21c[20] | |
| 64 | 0.01 | M | M7/TMD | neg | 47,XY,+21c[20] | |
| 65 | 0.02 | M | M7/TMD | neg | 47,XY,+21c[27] | |
| 66 | 0.01 | M | M7/TMD | neg | 47,XY,+21c[20] | |
| 67 | 0.01 | F | M7/TMD | ND | ND |
| Case . | Age (y) . | Sex . | FAB . | Multiplex RT-PCR . | Fusion transcript . | Karyotype . |
|---|---|---|---|---|---|---|
| 1 | 0.2 | M | AUL | neg | 46,XY,t(X;8)(p11;q23)[30] | |
| 2 | 14.0 | M | AUL | ND | 46,XX,del(5)(q13q33)[20]* | |
| 3 | 10.4 | M | M0 | MLL/AF4 | MLLex7/AF4(1414) | 48,XX,t(4;11)(q21;q23),+4,+mar[1]/48,XX,idem,−4,+der(4)t(4;11)(q21;q23)[19] |
| 4 | 0.5 | F | M0 | neg | 46,XX[3]/46,XX,t(6;X)(q22;p22)[17] | |
| 5 | 1.0 | F | M0 | neg | 46,XX,t(X;17)(p21;q11),r(6p)[15] | |
| 6 | 1.4 | F | M0 | neg | 48,XX,+8,+21c[20] | |
| 7 | 2.9 | M | M0 | neg | 45,XY,−7[40] | |
| 8 | 1.3 | M | M0 | ND | ND | |
| 9 | 0.01 | F | M1 | neg | 46,XX[5]/47,XX,+21[15] | |
| 10 | 6.4 | M | M1 | neg | 46,XY[13]/47,XY,+?del(19)(p13),del(2)(q13-14),inc[cp11] | |
| 11 | 0.3 | M | M1 | neg | 47,XY,+der(19)[40]† | |
| 12 | 9.0 | M | M2 | AML1/MGT8 | 46,XY[4]/46,XY,t(8;21)(q22;q22)[16] | |
| 13 | 7.8 | M | M2 | AML1/MGT8 | 45,X,−Y,t(8;21)(q22;q22)[5] | |
| 14 | 11.7 | M | M2 | AML1/MGT8 | 46,XY[1]/45,X,−Y,t(8;21)(q22;q22)[15] | |
| 15 | 10.1 | M | M2 | AML1/MGT8 | 45,X,−Y,t(8;21)(q22;q22)[20] | |
| 16 | 3.8 | M | M2 | AML1/MGT8 | 45,X,−Y,t(8;21)(q22;q22)[20] | |
| 17 | 4.3 | F | M2 | AML1/MGT8 | 46,XX,t(8;21)(q22;q22)[20] | |
| 18 | 7.9 | F | M2 | AML1/MGT8 | 46,XX,t(8;21)(q22;q22)[17] | |
| 19 | 8.4 | F | M2 | MLL/ELL | MLLex7/ELL | 46,XX,t(11;19)(q23;p13)[10] |
| 20 | 12.1 | M | M2 | neg | 46,XY,del(5)(q14q34)[15]/45,idem,−Y[15] | |
| 21 | 15.2 | F | M2 | neg | 46,XX[15] | |
| 22 | 12.0 | F | M2 | neg | 46,XX[40] | |
| 23 | 15.8 | F | M2 | neg | 46,XX[20] | |
| 24 | 14.4 | F | M2 | neg | 46,XX[20] | |
| 25 | 3.0 | F | M2 | neg | 46,XX[19] | |
| 26 | 4.0 | M | M2 | neg | 46,XY[20] | |
| 27 | 9.6 | F | M2 | ND | ND | |
| 28 | 3.2 | F | M3 | PML/RARA | PMLex6/RARAex2 | 46,XX,t(15;17)(q22;q21)[20] |
| 29 | 13.8 | F | M3 | PML/RARA | PMLex6/RARAex2 | 46,XX[3]/46,XX,t(15;17)(q22;q21)[17] |
| 30 | 12.2 | M | M3 | PML/RARA | PMLex6/RARAex2 | 46,XY,t(4;9)(q31;q34)t(15;17)(q22;q21)[16] |
| 31 | 1.8 | M | M3V | PML/RARA | PMLex6/RARAex2 | 46,XY,t(15;17)(q22;q12),del(17)(p11),t(17;17)(q11;p13)[30] |
| 32 | 10.3 | F | M3V | PML/RARA | PMLex6/RARAex2 | 46,XX,t(15;17)(q22;q21)[20] |
| 33 | 14.0 | F | M4 | MLL/AF6 | MLLex7/AF6 | 46,XX[20] |
| 34 | 12.7 | F | M4 | MLL/AF6 | MLLex6/AF6 | 46,XX[6]/46,del(11)(q23)[20]/46,XX,idem,del(9)(q22),[2] |
| 35 | 1.8 | F | M4 | MLL/AF1q | MLLex6/AF1q | 46,XX[2]/46,XX,t(1;11)(q21;q23),t(12;12)(q13;p12)[18] |
| 36 | 11.9 | M | M4 | CBFB/MYH11 | type A | 46,XY,inv(16)(p13q22),t(16;17)(p10;q10)[20] |
| 37 | 0.8 | M | M4 | neg | MLL/? | 46,XY,der(11)add(11)(q23)[20]‡ |
| 38 | 8.8 | M | M4 | neg | MLL/? | 54,XY,+Y,+6,+7,+8,+8,t(11;17)(q23;q25),+19,+20,+21[20] |
| 39 | 2.1 | F | M4 | neg | MLL/? | 46,XX,t(11;17)(q23;q21)[20] |
| 40 | 12.2 | F | M4 | neg | 46,XX[23]/46,XX,t(3;5)(q26;q13-14)[2] | |
| 41 | 13.4 | M | M4 | neg | 46,XY[8]/45,X−Y[1]90,idemx2[10] | |
| 42 | 16.2 | M | M4 | neg | 46,XY[2]/46,XY,t(7;14)(p15;q32)[19] | |
| 43 | 1.2 | M | M4 | neg | MLL/new gene | 46,XY[13]/46,XY,inv(11)(q12q23)[7]1-153 |
| 44 | 2.8 | M | M4 | ND | 46,XY[17]/46,XY,inv(8)(p11q13)[3] | |
| 45 | 11.5 | M | M4 | ND | 46,XY[9]/46,XY,del(5)(q13q31),t(7;11)(p15;p12)[9] | |
| 46 | 2.0 | F | M4Eo | CBFB/MYH11 | type A | 46,XX[12]/47,XX,+8[2]/46,XX,inv(16)(p13q22)[6] |
| 47 | 11.9 | M | M4Eo | ND | 46,XY,inv(16)(p13q22),t(15;16)(q22;p13)inv(16)(p13q22)[20] | |
| 48 | 14.0 | M | M5a | MLL/AF9 | MLLex6/AF9A | 46,XY,t(9;11)(p21;q23)[4]/46,XY,idem,del(13)(q14)[16] |
| 49 | 16.4 | F | M5a | MLL/AF9 | MLLex6/AF9B | 46,XX,t(9;11)(p21;q23)[20] |
| 50 | 14.6 | M | M5a | MLL/AF9 | MLLex7/AF9A | 46,XY,t(9;11)(p21;q23)[20] |
| 51 | 4.5 | M | M5a | MLL/AF9 | MLLex7/AF9A | 47,XY,t(9;11)(p21;q23),+8[20] |
| 52 | 7.3 | M | M5a | MLL/AF10 | MLLex6/AF10(883) | 46,XY[2]/46,XY,t(10;11)(p12;q23),t(10;12)(q24;p13)[2]/47,XY,idem,+del(1)(p13)[16] |
| 53 | 10.8 | F | M5b | neg | 46,XX[25] | |
| 54 | 6.0 | M | M6 | neg | 46,XY[3]/46-48,XY,inv(1)(p21p31),+del(1)(q21),der(1)t(1;8)(p13;q10),−6,−7,del(7)(q33), del(8)(q12),−9,−10,−21,+r,+1−3mar[cp13] | |
| 55 | 0.8 | M | M7 | neg | 46,XY[20] | |
| 56 | 1.9 | M | M7 | neg | 48,XY,del(6)(q21q24),+21,+21c[20] | |
| 57 | 0.7 | M | M7 | neg | 47,XY,t(1;22)(p13;q13.1),t(3;19)(p23;p13),t(3;15)(q22;q22),+19[8]/46,XY,idem,−20[2] | |
| 58 | 1.7 | F | M7 | neg | 47,XX,inv(9)(p11q13)c,+21c[1]/47,XX,idem,der(4)t(1;4)(q23;p15),[17]/47,XX,idem,iso(7)(q10)[2] | |
| 59 | 1.4 | F | M7 | neg | 47,XX,+21c[7]/47,XX,der(7)t(1;7)(q22;p22),+21c[11]/47,XX,dup(1)(q22q44),+21c[2] | |
| 60 | 1.2 | M | M7 | neg | 47,XY,t(2;4)(q37;q28),+21c[20] | |
| 61 | 1.9 | M | M7 | neg | 47,XY,+21c[18]/48,XY,+8,+21c[1]/49,XY,+8,+12,+21c[1] | |
| 62 | 1.9 | M | M7 | neg | 47,XY,+21c[16]/48,XY,+8,+21c[4] | |
| 63 | 1.3 | F | M7 | neg | 47,XX,+21c[20] | |
| 64 | 0.01 | M | M7/TMD | neg | 47,XY,+21c[20] | |
| 65 | 0.02 | M | M7/TMD | neg | 47,XY,+21c[27] | |
| 66 | 0.01 | M | M7/TMD | neg | 47,XY,+21c[20] | |
| 67 | 0.01 | F | M7/TMD | ND | ND |
For the fusion transcript data, the interpretation table in the HemaVision kit uses the old exon nomenclature of the MLL gene; exons 6-7 correspond to exons 9-10 of the new numbering according to Nilson et al.21
FAB indicates French-American-British; RT-PCR, reverse transcriptase–polymerase chain reaction; M, male; AUL, acute undifferentiated leukemia; neg, negative; ND, not determined; F, female.
FISH analysis revealed an additional t(5;11)(q35;p15).
FISH analysis revealed a cryptic t(7;12)(q36;p12).
Whole chromosome painting showed a t(11;17).
The inv(11)(q12q23) was detected by FISH analysis, and a new MLL fusion partner was cloned (Litzka et al, unpublished data, 2000).