Cytogenetic abnormalities of MPAL by karyotyping, FISH, and genomic microarray studies
| Cases . | Sex . | Age, y . | WHO category . | T-lineage (0 = no, 1 = yes) . | Molecular . | Nodal disease (0 = no) . | Cytogenetics, FISH, and array results (if available) . |
|---|---|---|---|---|---|---|---|
| 1 | F | 25 | MPAL with t(v;11q23) | 0 | MLL | 0 | No cytogenetics tests done; FISH MLL rearrangements: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[240/300] |
| 2 | F | 4 mo | MPAL with t(4;11) | 0 | MLL | 0 | 46,XX,t(4;11)(q21;q23)[20]; FISH: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[480/500] |
| 3 | F | 67 | MPAL with t(4;11) | 0 | MLL | 0 | 47,XX,+X,t(4;11)(q21;q23)[20] |
| FISH: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[270/300]; array: gain of X chromosome, low level gain of chromosomes 6 and 20; homozygous deletion of CDKN2A/B, partial deletion of both AFF1 and MLL loci | |||||||
| 4 | M | 29 | MPAL with t(9;22) | 0 | BCR-ABL1 | 0 | 46,XY,t(9;22)(q34.1;q11.2)[1]/46,idem,del(13)(q14),der(16)t(1;16)(q25;q24)[9]/46,XY[10]; FISH: nuc ish(TP73x2,ANGPTL1x3)[272/300], (ABL1,BCR)x3(ABL1 con BCRx2)[270/300],(D13S319x1,LAMP1x1)[240/300] |
| 5 | M | 55 | MPAL with t(9;22) | 0 | BCR-ABL1 | 0 | 46,XY,t(9;22)(q34.1;q11.2)[20]; FISH: nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[297/300]; array: deletion of EBF1 (5q33.2) and IKZF1 (7p12.1) |
| 6 | F | 60 | MPAL with t(9;22) | 0 | BCR-ABL1 | 0 | 46,XX,t(9;22)(q34.1;q11.2)[19]/46,idem,del(1)(p34p36),del(1)(q21q23),-3, add(10)(p13),11,+2mar[2]; FISH: nuc ish(TP73x1,ANGPLT1x2)[300],(ABL1,BCR)x3(ABL1 con CRx2)[282/300]; array: deletion of RUNX1 and ERG (21q22), and MYB (6q23.3) |
| 7 | F | 65 | MPAL B/myeloid, NOS | 0 | others | 0 | 46,XX[20]; FISH: nuc ish(D3S1243,TERC,D3S1564)x2(D3S1243 con TERC con D3S1564x2)[300],(D5S23,EGR1,D7Z1,D7S486,D8Z2,MLL,D20S108)x2[300]; array: deletion of PIM1 (6p21.31); CN-LOH of 21q21.2-ter with RUNX1 and ERG |
| 8 | M | 11 | MPAL B/myeloid, NOS | 0 | NUP98-NSD1 | 0 | 46,XY,t(5;11)(q31;q21)c[20]; array: deletion of 4p15.2-15.32, minor gain of chromosome 12 |
| 9 | M | 4 | MPAL B/myeloid, NOS T(12;21) positive | 0 | ETV6-RUNX1 | 0 | 46,XY,del(6)(q?23q?25),add(12)(p13)[12]/46,idem,add(4)(p?14)[4]/46,XY[4]; FISH: nuc ish(ETV6x2,RUNX1x3)(ETV6 con RUNX1x1)[20/300], (ETV6x2,RUNx2)(ETV6 con RUNX1x1)[250/300] |
| 10 | M | 51 | MPAL B/myeloid, NOS | 0 | SSBP2-JAK2 | 0 | Chromosome analysis failed; FISH: nuc ish(ABL1,BCR)x2[300],(MLL)x2[300], (ETV6,RUNX1)x2[300] |
| 11 | M | 1 | MPAL B/myeloid, NOS | 0 | others | 0 | 46,XY,?inv(11)(q22q23),der(16)t(1;16)(q21;q12); FISH: nuc ish(TP73x2,ANGPTL1x3)[165/300],(CBFBx1)[180/300]; array: gain of 1q and loss of 16q |
| 12 | F | 56 | MPAL B/myeloid, NOS | 0 | PHF6 | 0 | 46,XX,del(2)(p13p25),add(11)(p15)[6]/46,XX[12]; FISH: nuc ish(D5S23x2,EGR1x1)[6/300],(MLLx2)[300] |
| 13* | F | 43 | MAPL T/myeloid, NOS | 1 | PHF6 | Skin | 46,XX,inv(9)(p11q13)c[20]; FISH: nuc ish(RUNX1T1,RUNX1)x2[300],(MLL)x2[300] |
| 14 | M | 24 | MAPL, NOS | 1 | PHF6 | Neck nodes | 46,XY[19] |
| 15 | M | 25 | MAPL T/myeloid, NOS | 1 | PHF6 | Mediastinal lad | 46,XY,del(13)(q14q32),del(16)(q?22) [9]/46,XY [6]; FISH: nuc ish(TP73x1,ANGPTL1x2)[132/300], (D13S319x1,LAMP1x2)[135/300] |
| 16 | M | 28 | MPAL, NOS | 1 | PHF6 | Systemic lad | 47,XY,+8,del(12)(p12)[8]/47,idem,del(9)(q34)[4]/46,XY[8]; FISH: nuc ish(D8Z2x3)[166/300],(ABL1x1,BCRx2)[202/300], (ETV6x1,RUNX1x2)[202/300]; array: +8; deletion of 9q3.3-34.12 with ABL1 and NUP214; deletion of 12p12.1-p13.2 with ETV6 |
| 17* | M | 3 | MPAL, NOS | 1 | PHF6 | Systemic lad | 46,XY [20] |
| 18 | M | 69 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | Cytogenetic analysis not performed; FISH: nuc ish(D3S1243,TERC,D3S1564)x2(D3S1243 con TERC con D3S1564x2)[300],(DEK,NUP214,RUNX1T1,RUNX1,MLLCBFB)x2[300]; array: CN-LOH of 9p13.3 (PAX5), 10p12.21-pter (GATA3/MLLT10), and 13q (FLT3, RB), 14q32.11-qter, and 17q21.33-q24.2 |
| 19 | F | 62 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | 46,XX[20]; nuc ish(D5S23,EGR1)x2[300],(D7Z1,D7S486)x2[300],(MLLx2)[300]; array: normal |
| 20† | F | 63 | MAPL T/myeloid, NOS | 1 | DNMT3A | 0 | 46,XX,add(4)(p14)[6]/46,XX,dup(1)(q25q44)[1]/46,XX[14]; FISH: nuc ish(TP73,ANGPTL1)x2[300],(MLLx2)[300], (D3S1243,TERC,D3S1564)x2 (D3S1243 con TERC con D3S1564x2)[300]; array: deletion of 20p12.2 |
| 21 | M | 59 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | 45,XY,der(12)t(12;18)(p?13;q?12),-18[20]; FISH: nuc ish (ETV6x1)[294/300]; array: CN-LOH of 2p23.3-pter including DNMT3A, ASXL2, ALK, MYCN, deletion of 12p11.22-pter including ETV6; deletion of 18p11.22-pter |
| 22 | M | 37 | MAPL T/myeloid, NOS | 1 | DNMT3A | 0 | 45,XY,add(1)(p?22),der(3)t(1;3)(p22;q21),−9,add(10)(p11.2),del(11)(q23), del(12)(p11.2),add(14)(q32),i(17)(q10), der(18)t(9;18)(q13;q23)[cp18]/46,XY[2]; FISH: nuc ish(ABL1x1,BCRx2)[180/300],(ETV6x1,RUNX1x2)[283/300], (TP53,D17Z1)x1[23/300],(TP53x1,D17Z1x2)[262/300]; array: deletion of 18p11.23-pter, and 18q22.1-qter |
| 23 | F | 53 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | 46,XX[20]; FISH: nuc ish(D3S1243,TERC,D3S1564)x2(D3S1243 con TERC con D3S1564x2)[300],(ABL1,BCR)x2[300],(MLLx2)[300] |
| 24 | F | 63 | MAPL T/myeloid, NOS | 1 | WT1 | 0 | 46,XX[20]; FISH: negative for t(9;22), and MLL rearrangement |
| 25 | M | 15 | MAPL T/myeloid, NOS | 1 | WT1 | 0 | 46,XY,der(11)add(11)(p11.2)t(11;16)(q21;q22)[2]/46,XY[19]; FISH: nuc is(MLLx2)[300]; array: CN-LOH of 9p31 including CDKN2A/B |
| 26 | M | 63 | MAPL T/myeloid, NOS | 1 | others | 0 | 46,XY,t(14;19)(q32;q13) [21]/46,XY [1]; FISH: nuc ish(CDKN2A,D9Z1)x2[500],(ABL1,BCR)x2[500],(TRADx2)[500], (IGHx2)[500]; array: normal |
| 27 | M | 17 | MAPL T/myeloid, NOS | 1 | ND | 0 | 45∼47,XY,+Y,add(1)(q21),add(8)(q21),add(12)(p13),−12,+1∼2mar [cp16]; FISH: loss of ETV6 |
| 28 | F | 12 | MPAL with t(9;11) | 0 | ND | 0 | 46,XX,del(1)(q21),del(4)(p14p16),t(9;11)(p21;q23), −11, −13, −18, der(20)t(11;20)(q13;q11.1),+mar1,+mar2,+mar3[9]/46,XX[11]; FISH: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[60/300] |
| 29 | M | 42 | MPAL B/myeloid, NOS | 0 | ND | 0 | 47,XY,del(8)(p22),+21 [17]/46,XY [3]; FISH: nuc ish(ETV6X2,RUNX1x3) |
| Cases . | Sex . | Age, y . | WHO category . | T-lineage (0 = no, 1 = yes) . | Molecular . | Nodal disease (0 = no) . | Cytogenetics, FISH, and array results (if available) . |
|---|---|---|---|---|---|---|---|
| 1 | F | 25 | MPAL with t(v;11q23) | 0 | MLL | 0 | No cytogenetics tests done; FISH MLL rearrangements: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[240/300] |
| 2 | F | 4 mo | MPAL with t(4;11) | 0 | MLL | 0 | 46,XX,t(4;11)(q21;q23)[20]; FISH: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[480/500] |
| 3 | F | 67 | MPAL with t(4;11) | 0 | MLL | 0 | 47,XX,+X,t(4;11)(q21;q23)[20] |
| FISH: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[270/300]; array: gain of X chromosome, low level gain of chromosomes 6 and 20; homozygous deletion of CDKN2A/B, partial deletion of both AFF1 and MLL loci | |||||||
| 4 | M | 29 | MPAL with t(9;22) | 0 | BCR-ABL1 | 0 | 46,XY,t(9;22)(q34.1;q11.2)[1]/46,idem,del(13)(q14),der(16)t(1;16)(q25;q24)[9]/46,XY[10]; FISH: nuc ish(TP73x2,ANGPTL1x3)[272/300], (ABL1,BCR)x3(ABL1 con BCRx2)[270/300],(D13S319x1,LAMP1x1)[240/300] |
| 5 | M | 55 | MPAL with t(9;22) | 0 | BCR-ABL1 | 0 | 46,XY,t(9;22)(q34.1;q11.2)[20]; FISH: nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[297/300]; array: deletion of EBF1 (5q33.2) and IKZF1 (7p12.1) |
| 6 | F | 60 | MPAL with t(9;22) | 0 | BCR-ABL1 | 0 | 46,XX,t(9;22)(q34.1;q11.2)[19]/46,idem,del(1)(p34p36),del(1)(q21q23),-3, add(10)(p13),11,+2mar[2]; FISH: nuc ish(TP73x1,ANGPLT1x2)[300],(ABL1,BCR)x3(ABL1 con CRx2)[282/300]; array: deletion of RUNX1 and ERG (21q22), and MYB (6q23.3) |
| 7 | F | 65 | MPAL B/myeloid, NOS | 0 | others | 0 | 46,XX[20]; FISH: nuc ish(D3S1243,TERC,D3S1564)x2(D3S1243 con TERC con D3S1564x2)[300],(D5S23,EGR1,D7Z1,D7S486,D8Z2,MLL,D20S108)x2[300]; array: deletion of PIM1 (6p21.31); CN-LOH of 21q21.2-ter with RUNX1 and ERG |
| 8 | M | 11 | MPAL B/myeloid, NOS | 0 | NUP98-NSD1 | 0 | 46,XY,t(5;11)(q31;q21)c[20]; array: deletion of 4p15.2-15.32, minor gain of chromosome 12 |
| 9 | M | 4 | MPAL B/myeloid, NOS T(12;21) positive | 0 | ETV6-RUNX1 | 0 | 46,XY,del(6)(q?23q?25),add(12)(p13)[12]/46,idem,add(4)(p?14)[4]/46,XY[4]; FISH: nuc ish(ETV6x2,RUNX1x3)(ETV6 con RUNX1x1)[20/300], (ETV6x2,RUNx2)(ETV6 con RUNX1x1)[250/300] |
| 10 | M | 51 | MPAL B/myeloid, NOS | 0 | SSBP2-JAK2 | 0 | Chromosome analysis failed; FISH: nuc ish(ABL1,BCR)x2[300],(MLL)x2[300], (ETV6,RUNX1)x2[300] |
| 11 | M | 1 | MPAL B/myeloid, NOS | 0 | others | 0 | 46,XY,?inv(11)(q22q23),der(16)t(1;16)(q21;q12); FISH: nuc ish(TP73x2,ANGPTL1x3)[165/300],(CBFBx1)[180/300]; array: gain of 1q and loss of 16q |
| 12 | F | 56 | MPAL B/myeloid, NOS | 0 | PHF6 | 0 | 46,XX,del(2)(p13p25),add(11)(p15)[6]/46,XX[12]; FISH: nuc ish(D5S23x2,EGR1x1)[6/300],(MLLx2)[300] |
| 13* | F | 43 | MAPL T/myeloid, NOS | 1 | PHF6 | Skin | 46,XX,inv(9)(p11q13)c[20]; FISH: nuc ish(RUNX1T1,RUNX1)x2[300],(MLL)x2[300] |
| 14 | M | 24 | MAPL, NOS | 1 | PHF6 | Neck nodes | 46,XY[19] |
| 15 | M | 25 | MAPL T/myeloid, NOS | 1 | PHF6 | Mediastinal lad | 46,XY,del(13)(q14q32),del(16)(q?22) [9]/46,XY [6]; FISH: nuc ish(TP73x1,ANGPTL1x2)[132/300], (D13S319x1,LAMP1x2)[135/300] |
| 16 | M | 28 | MPAL, NOS | 1 | PHF6 | Systemic lad | 47,XY,+8,del(12)(p12)[8]/47,idem,del(9)(q34)[4]/46,XY[8]; FISH: nuc ish(D8Z2x3)[166/300],(ABL1x1,BCRx2)[202/300], (ETV6x1,RUNX1x2)[202/300]; array: +8; deletion of 9q3.3-34.12 with ABL1 and NUP214; deletion of 12p12.1-p13.2 with ETV6 |
| 17* | M | 3 | MPAL, NOS | 1 | PHF6 | Systemic lad | 46,XY [20] |
| 18 | M | 69 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | Cytogenetic analysis not performed; FISH: nuc ish(D3S1243,TERC,D3S1564)x2(D3S1243 con TERC con D3S1564x2)[300],(DEK,NUP214,RUNX1T1,RUNX1,MLLCBFB)x2[300]; array: CN-LOH of 9p13.3 (PAX5), 10p12.21-pter (GATA3/MLLT10), and 13q (FLT3, RB), 14q32.11-qter, and 17q21.33-q24.2 |
| 19 | F | 62 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | 46,XX[20]; nuc ish(D5S23,EGR1)x2[300],(D7Z1,D7S486)x2[300],(MLLx2)[300]; array: normal |
| 20† | F | 63 | MAPL T/myeloid, NOS | 1 | DNMT3A | 0 | 46,XX,add(4)(p14)[6]/46,XX,dup(1)(q25q44)[1]/46,XX[14]; FISH: nuc ish(TP73,ANGPTL1)x2[300],(MLLx2)[300], (D3S1243,TERC,D3S1564)x2 (D3S1243 con TERC con D3S1564x2)[300]; array: deletion of 20p12.2 |
| 21 | M | 59 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | 45,XY,der(12)t(12;18)(p?13;q?12),-18[20]; FISH: nuc ish (ETV6x1)[294/300]; array: CN-LOH of 2p23.3-pter including DNMT3A, ASXL2, ALK, MYCN, deletion of 12p11.22-pter including ETV6; deletion of 18p11.22-pter |
| 22 | M | 37 | MAPL T/myeloid, NOS | 1 | DNMT3A | 0 | 45,XY,add(1)(p?22),der(3)t(1;3)(p22;q21),−9,add(10)(p11.2),del(11)(q23), del(12)(p11.2),add(14)(q32),i(17)(q10), der(18)t(9;18)(q13;q23)[cp18]/46,XY[2]; FISH: nuc ish(ABL1x1,BCRx2)[180/300],(ETV6x1,RUNX1x2)[283/300], (TP53,D17Z1)x1[23/300],(TP53x1,D17Z1x2)[262/300]; array: deletion of 18p11.23-pter, and 18q22.1-qter |
| 23 | F | 53 | MAPL T/myeloid, NOS | 1 | DNMT3A | Neck nodes | 46,XX[20]; FISH: nuc ish(D3S1243,TERC,D3S1564)x2(D3S1243 con TERC con D3S1564x2)[300],(ABL1,BCR)x2[300],(MLLx2)[300] |
| 24 | F | 63 | MAPL T/myeloid, NOS | 1 | WT1 | 0 | 46,XX[20]; FISH: negative for t(9;22), and MLL rearrangement |
| 25 | M | 15 | MAPL T/myeloid, NOS | 1 | WT1 | 0 | 46,XY,der(11)add(11)(p11.2)t(11;16)(q21;q22)[2]/46,XY[19]; FISH: nuc is(MLLx2)[300]; array: CN-LOH of 9p31 including CDKN2A/B |
| 26 | M | 63 | MAPL T/myeloid, NOS | 1 | others | 0 | 46,XY,t(14;19)(q32;q13) [21]/46,XY [1]; FISH: nuc ish(CDKN2A,D9Z1)x2[500],(ABL1,BCR)x2[500],(TRADx2)[500], (IGHx2)[500]; array: normal |
| 27 | M | 17 | MAPL T/myeloid, NOS | 1 | ND | 0 | 45∼47,XY,+Y,add(1)(q21),add(8)(q21),add(12)(p13),−12,+1∼2mar [cp16]; FISH: loss of ETV6 |
| 28 | F | 12 | MPAL with t(9;11) | 0 | ND | 0 | 46,XX,del(1)(q21),del(4)(p14p16),t(9;11)(p21;q23), −11, −13, −18, der(20)t(11;20)(q13;q11.1),+mar1,+mar2,+mar3[9]/46,XX[11]; FISH: nuc ish(MLLx2)(5′MLL sep 3′MLLx1)[60/300] |
| 29 | M | 42 | MPAL B/myeloid, NOS | 0 | ND | 0 | 47,XY,del(8)(p22),+21 [17]/46,XY [3]; FISH: nuc ish(ETV6X2,RUNX1x3) |