Clinical characteristics and cytogenetic findings in patients with MLL amplification
Case no. . | Age, y . | Sex . | Diagnosis* . | Group† . | Type . | Karyotype‡ . | Ref§ . |
|---|---|---|---|---|---|---|---|
| 1 | 68 | M | MDS/RAEB | A | — | 47, XY, der(1)t(1;20)(p34;q?), der(2)(:2p?12 → 2q11.2::17::7q31 → 7qter), der(7)(:2q11.2 → 2q37::7p22 → 7q22), der(11)(qter → q?::p? → qter), +der(11)del(11)(p12)del(11)(q13q23), der(17)t(17;20), +der(17), -20 | 7 (30) |
| 2 | 63 | M | AML M0 | C | — | 45, XY, der(2)t(2;18)(p13;p11.?3), del(5)(q13q33), der(7)t(7;11), dup(11)(pter → q24::q?24 → q?), der(11;12)(q10:q10), der(13)t(7:13)(q?;q21), +der(13)t(7;13), -16, der(17)t(2;17)(p13;q21), der(17)t(7;17)(?;q24), der(18)t(18;20)(q?;p11.2), der(20)t(7;20) | 7 (26) |
| 3 | 76 | M | AML M2 | C | — | 46, XY, dic(1;19)(19pter → 19qter::1p36 → 1p13::19p12 → 19q13.1::1p36 → 1qter), der(5)t(5;17)(q13;q11.2 ∼ q22), dup(11)(pter → q24::q?24 → q?), der(17)r(5;17), -19, i(22)(q10), +i(22) | 7 (35) |
| 4 | 75 | F | AML M2 | C | CT, RT | 46, XX, del(3)(p12p21), del(5)(q24q34), i(9)(p10), del(11)(q14), +1 ∼ 23dmin | — |
| 5 | 76 | M | AML M2 | B | PM? | 45, XY, dic(5;18)(q13;p11.2), r(11)(p15q25), +dicr(11;11)(p13q25;p13q25), -13, ins(16;11)(p13;?), der(17)t(13;17)(q?;q25) | — |
| 6 | 64 | F | AML M2 | A | — | 49, XX, +X, der(4)t(4;18)(q24;q?), +der(4)t(4;18)(q24;q?), del(5)(q13q31), -7, +8, +10, der(12)t(4;12)(q24;p13), der(16)t(11;16)(?;q21), der(18)del(18)(p11)del(18)(q11) | — |
| 7 | 61 | M | AML M4 | A | — | 46, XY, der(11)t(11;11)(p15;q11) | — |
| 8 | 63 | M | AML M1 | B | — | 48, XY, der(4)t(4;21)(q35;q?), +5, del(5)(q13q33), der(6)(6pter → 6q11::17? → 17?::21? → 21?::6q11 → 6qter), der(8)t(8;21)(p23;q?), +der(11), +r(11), -17, der(21)t(17;21)(?;q11.2) | — |
| 9 | 58 | F | MDS/RAEB | A | RT | 47 ∼ 48, X, t(X;5)(q13;q13), del(5)(q15q31), +6, der(11)dup(11)(q13q23)t(11;21)(q25;q11), +r(11)×3, -18, -21 | — |
| 10 | 72 | M | AML M1 | A | — | 47 ∼ 49, XY, -2, dic(5;17)(q11;p11), der(7)t(2;7)(q11;q11)t(2;12)(q37;q12), +8, +r(11)×3, der(12)t(2;12)(?;q12), +13 | — |
| 11 | 71 | M | AML | A | RE | 49, XY, der(2)t(2;16)(p25;?), -5, r(5), +der(8)t(8;15)(q13;q25), +10, der(11)t(11;12), +der(11)×3, -12, +13, der(15)t(8;15)(q?;q25), der(16)t(12;16)(?;q24), -17, -18 | — |
| 12 | 66 | F | MDS/RAEB | A | — | 40, XX, -2, -3, -5, der(6;16)dic(6;16)(q16;p13)t(2;16)(?;q24), r(7)(p12q11.2), i(11)(q10), der(12)t(12;21)(p12;q?)t(3;21)(p22;?), -13, der(15)t(3;15)(q21;p10), der(17)t(13;17)(q11;p12), der(21;22)(q10;q10) | — |
| 13 | 67 | M | AML M2 | B | — | 45, XY, del(5)(q13q31), der(11)t(11;11)(q23;q?), -15 | — |
| 14 | 65 | F | AML M2 | A | — | 43, X, -X, der(5)t(5;7)(p11;q32)del(5)(q13q31), der(7)t(5;7)(p11;q32), qdp(11)(q23q25), -17, -18 | — |
| 15 | 61 | M | AML M4 | B | CT | 46, XY, del(5)(q13q31), der(22)ins(22;11)(q11;q?q?) | — |
| 16 | 84 | F | AML M2 | A | — | 44, XX, der(5)t(5;17)(q11;q11), der(11)t(11;22)(q23;q11)dup(11;22)(q22q23;q11q13), +der(11)dup(11)(q22q25)t(11;22)(q23;q11)dup(11;22)(q22q23;q11q13), dic(12;15)(p11;p11), -17, -22 | — |
| 17 | 57 | F | AML M4 | B | — | 48, XX, +der(11), +der(11) | — |
| 18 | 43 | M | AML M2 | B | PM? | 44, XY, del(5)(q13q33), dic(6;17)(p23;p13), der(11), -18 | — |
| 19 | 64 | M | AML M1 | A | PM | 46, XY, der(17)t(11;17)(q13;p13) | — |
| 20 | 26 | F | AML M4 | A | — | 46, XX, del(5)(q13q33), der(11)t(11;17)(p15;q21), +r(11)(p11q25), -17 | — |
| 21 | 63 | M | AML M2 | A | — | 42, XY, der(5)del(5)(p15)del(5)(q13), -7, der(12)t(12;16)(p11;p11), ins(12;5)(p13;q?q?), -16, -18, der(22;22)(p10;p10) | — |
| 22 | 82 | M | AML M1 | A | — | 44, XY, del(5)(q31), der(5)t(5;17)(q13;q?), trp(11)(q14q25), -17, der(17)t(5;17)(q?;q25), -8 | — |
| 23 | 46 | F | MDS/RAEB-T | B | CT | 44, XX, -5, der(7)t(5;7)(p11;p11)t(5;7)(q13;q22)t(5;7)(q23;q34), -11, der(18)t(11;18)(?;p12.2) | — |
| 24 | 46 | F | AML M2 | B | — | 42, X, -X, -3, der(5)t(5;17)(q11;q11)ins(5;11)(p13;?), -9, del(11)(p11.2), r(11), +der(11)dup(11)(q?q?)t(11;21)(q?;q?)t(3;21)(q11;q?), -17, -21 | — |
| 25 | 80 | M | AML M0 | B | — | 42∼43, XY, -3, der(5)t(5;19)(q11.2;?), del(6)(p22), der(9)t(6;9)(p22;q34), der(11;15)(q10;q10), der(12)t(12;19)(p11;?), -17, -19, der(20)t(11;20)(q2?3;q13.3) | — |
| 26 | 74 | F | AML M1 | B | — | 49, X, t(X;1)(p11;p11), t(1;22)(q31;q12), der(3)t(3;11)(q12;q21∼23), del(5)(q21q31), der(6)(17pter→17p1?::15q2?1→q11::14q32→q11::6p23→6qter), der(7)t(6;7)(p23;q22), +der(8)t(3;8)(q21;q24), +r(11), -14, +15, ider(15)(q10)t(11;15)(q13;q?)×2, der(17)t(15;17)(q2?1;p1?), +22 | — |
| 27 | 58 | M | AML M5A | C | — | 45, XY, ins(4;11)(q2?;q?q?), del(5)(q13q33), dup(11)(q?q?), der(12)t(11;12)(q?;p11.2)hsr(11)(q23), -16 | — |
| 28 | 80 | M | AML M1 | A | — | 44, X, -Y, del(5)(q13q33), der(5)t(5;11)(q35;q13), -7, der(21)(21pter→21q2?1::7?::21q?::7?::21q?::7?::21q?::7?) | 10 (3) |
| 29 | 48 | M | AML M2 | B | PM | 45∼46, XY, der(5)t(5;17)(q11;q11), r(11;11)(p15q25;11q?), -17, +mar | 10 (15) |
| 30 | 68 | F | AML M2 | A | — | 45, XX, inv(4)(p15.3q23), inv(5)(p15.3q11.1), der(5)del(5)(q13q35)t(5;13)(q13;q21), der(13)t(5;13)(q35;q21), der(16)t(10;16)(q22;p13), -18, der(19)t(11;19)(q13;p13.3) | 10 (24) |
| 31 | 77 | M | AML | A | — | 46, XY, t(1;21)(q31;q21), der(7)t(7;11)(p22;q23)dup(11)(q23q24), dup(11)(q23q24), +dup(11)(q23q24) | |
| UoC-M1 | — | — | — | — | — | 43X, -Y, add(5)(q13), dic(5;9)(p15;p13), -7, +der(9)t(9;19)(q11;q11), dic(9;?;16;?)(9qter-9p1?3::?::16p11-16q22::?), -11, +16, dic(16;21)(q11;p12), der(17)t(7;17)(p14;p12), -19, -19, +mar1, +mar2, +mar3 | 24 |
Case no. . | Age, y . | Sex . | Diagnosis* . | Group† . | Type . | Karyotype‡ . | Ref§ . |
|---|---|---|---|---|---|---|---|
| 1 | 68 | M | MDS/RAEB | A | — | 47, XY, der(1)t(1;20)(p34;q?), der(2)(:2p?12 → 2q11.2::17::7q31 → 7qter), der(7)(:2q11.2 → 2q37::7p22 → 7q22), der(11)(qter → q?::p? → qter), +der(11)del(11)(p12)del(11)(q13q23), der(17)t(17;20), +der(17), -20 | 7 (30) |
| 2 | 63 | M | AML M0 | C | — | 45, XY, der(2)t(2;18)(p13;p11.?3), del(5)(q13q33), der(7)t(7;11), dup(11)(pter → q24::q?24 → q?), der(11;12)(q10:q10), der(13)t(7:13)(q?;q21), +der(13)t(7;13), -16, der(17)t(2;17)(p13;q21), der(17)t(7;17)(?;q24), der(18)t(18;20)(q?;p11.2), der(20)t(7;20) | 7 (26) |
| 3 | 76 | M | AML M2 | C | — | 46, XY, dic(1;19)(19pter → 19qter::1p36 → 1p13::19p12 → 19q13.1::1p36 → 1qter), der(5)t(5;17)(q13;q11.2 ∼ q22), dup(11)(pter → q24::q?24 → q?), der(17)r(5;17), -19, i(22)(q10), +i(22) | 7 (35) |
| 4 | 75 | F | AML M2 | C | CT, RT | 46, XX, del(3)(p12p21), del(5)(q24q34), i(9)(p10), del(11)(q14), +1 ∼ 23dmin | — |
| 5 | 76 | M | AML M2 | B | PM? | 45, XY, dic(5;18)(q13;p11.2), r(11)(p15q25), +dicr(11;11)(p13q25;p13q25), -13, ins(16;11)(p13;?), der(17)t(13;17)(q?;q25) | — |
| 6 | 64 | F | AML M2 | A | — | 49, XX, +X, der(4)t(4;18)(q24;q?), +der(4)t(4;18)(q24;q?), del(5)(q13q31), -7, +8, +10, der(12)t(4;12)(q24;p13), der(16)t(11;16)(?;q21), der(18)del(18)(p11)del(18)(q11) | — |
| 7 | 61 | M | AML M4 | A | — | 46, XY, der(11)t(11;11)(p15;q11) | — |
| 8 | 63 | M | AML M1 | B | — | 48, XY, der(4)t(4;21)(q35;q?), +5, del(5)(q13q33), der(6)(6pter → 6q11::17? → 17?::21? → 21?::6q11 → 6qter), der(8)t(8;21)(p23;q?), +der(11), +r(11), -17, der(21)t(17;21)(?;q11.2) | — |
| 9 | 58 | F | MDS/RAEB | A | RT | 47 ∼ 48, X, t(X;5)(q13;q13), del(5)(q15q31), +6, der(11)dup(11)(q13q23)t(11;21)(q25;q11), +r(11)×3, -18, -21 | — |
| 10 | 72 | M | AML M1 | A | — | 47 ∼ 49, XY, -2, dic(5;17)(q11;p11), der(7)t(2;7)(q11;q11)t(2;12)(q37;q12), +8, +r(11)×3, der(12)t(2;12)(?;q12), +13 | — |
| 11 | 71 | M | AML | A | RE | 49, XY, der(2)t(2;16)(p25;?), -5, r(5), +der(8)t(8;15)(q13;q25), +10, der(11)t(11;12), +der(11)×3, -12, +13, der(15)t(8;15)(q?;q25), der(16)t(12;16)(?;q24), -17, -18 | — |
| 12 | 66 | F | MDS/RAEB | A | — | 40, XX, -2, -3, -5, der(6;16)dic(6;16)(q16;p13)t(2;16)(?;q24), r(7)(p12q11.2), i(11)(q10), der(12)t(12;21)(p12;q?)t(3;21)(p22;?), -13, der(15)t(3;15)(q21;p10), der(17)t(13;17)(q11;p12), der(21;22)(q10;q10) | — |
| 13 | 67 | M | AML M2 | B | — | 45, XY, del(5)(q13q31), der(11)t(11;11)(q23;q?), -15 | — |
| 14 | 65 | F | AML M2 | A | — | 43, X, -X, der(5)t(5;7)(p11;q32)del(5)(q13q31), der(7)t(5;7)(p11;q32), qdp(11)(q23q25), -17, -18 | — |
| 15 | 61 | M | AML M4 | B | CT | 46, XY, del(5)(q13q31), der(22)ins(22;11)(q11;q?q?) | — |
| 16 | 84 | F | AML M2 | A | — | 44, XX, der(5)t(5;17)(q11;q11), der(11)t(11;22)(q23;q11)dup(11;22)(q22q23;q11q13), +der(11)dup(11)(q22q25)t(11;22)(q23;q11)dup(11;22)(q22q23;q11q13), dic(12;15)(p11;p11), -17, -22 | — |
| 17 | 57 | F | AML M4 | B | — | 48, XX, +der(11), +der(11) | — |
| 18 | 43 | M | AML M2 | B | PM? | 44, XY, del(5)(q13q33), dic(6;17)(p23;p13), der(11), -18 | — |
| 19 | 64 | M | AML M1 | A | PM | 46, XY, der(17)t(11;17)(q13;p13) | — |
| 20 | 26 | F | AML M4 | A | — | 46, XX, del(5)(q13q33), der(11)t(11;17)(p15;q21), +r(11)(p11q25), -17 | — |
| 21 | 63 | M | AML M2 | A | — | 42, XY, der(5)del(5)(p15)del(5)(q13), -7, der(12)t(12;16)(p11;p11), ins(12;5)(p13;q?q?), -16, -18, der(22;22)(p10;p10) | — |
| 22 | 82 | M | AML M1 | A | — | 44, XY, del(5)(q31), der(5)t(5;17)(q13;q?), trp(11)(q14q25), -17, der(17)t(5;17)(q?;q25), -8 | — |
| 23 | 46 | F | MDS/RAEB-T | B | CT | 44, XX, -5, der(7)t(5;7)(p11;p11)t(5;7)(q13;q22)t(5;7)(q23;q34), -11, der(18)t(11;18)(?;p12.2) | — |
| 24 | 46 | F | AML M2 | B | — | 42, X, -X, -3, der(5)t(5;17)(q11;q11)ins(5;11)(p13;?), -9, del(11)(p11.2), r(11), +der(11)dup(11)(q?q?)t(11;21)(q?;q?)t(3;21)(q11;q?), -17, -21 | — |
| 25 | 80 | M | AML M0 | B | — | 42∼43, XY, -3, der(5)t(5;19)(q11.2;?), del(6)(p22), der(9)t(6;9)(p22;q34), der(11;15)(q10;q10), der(12)t(12;19)(p11;?), -17, -19, der(20)t(11;20)(q2?3;q13.3) | — |
| 26 | 74 | F | AML M1 | B | — | 49, X, t(X;1)(p11;p11), t(1;22)(q31;q12), der(3)t(3;11)(q12;q21∼23), del(5)(q21q31), der(6)(17pter→17p1?::15q2?1→q11::14q32→q11::6p23→6qter), der(7)t(6;7)(p23;q22), +der(8)t(3;8)(q21;q24), +r(11), -14, +15, ider(15)(q10)t(11;15)(q13;q?)×2, der(17)t(15;17)(q2?1;p1?), +22 | — |
| 27 | 58 | M | AML M5A | C | — | 45, XY, ins(4;11)(q2?;q?q?), del(5)(q13q33), dup(11)(q?q?), der(12)t(11;12)(q?;p11.2)hsr(11)(q23), -16 | — |
| 28 | 80 | M | AML M1 | A | — | 44, X, -Y, del(5)(q13q33), der(5)t(5;11)(q35;q13), -7, der(21)(21pter→21q2?1::7?::21q?::7?::21q?::7?::21q?::7?) | 10 (3) |
| 29 | 48 | M | AML M2 | B | PM | 45∼46, XY, der(5)t(5;17)(q11;q11), r(11;11)(p15q25;11q?), -17, +mar | 10 (15) |
| 30 | 68 | F | AML M2 | A | — | 45, XX, inv(4)(p15.3q23), inv(5)(p15.3q11.1), der(5)del(5)(q13q35)t(5;13)(q13;q21), der(13)t(5;13)(q35;q21), der(16)t(10;16)(q22;p13), -18, der(19)t(11;19)(q13;p13.3) | 10 (24) |
| 31 | 77 | M | AML | A | — | 46, XY, t(1;21)(q31;q21), der(7)t(7;11)(p22;q23)dup(11)(q23q24), dup(11)(q23q24), +dup(11)(q23q24) | |
| UoC-M1 | — | — | — | — | — | 43X, -Y, add(5)(q13), dic(5;9)(p15;p13), -7, +der(9)t(9;19)(q11;q11), dic(9;?;16;?)(9qter-9p1?3::?::16p11-16q22::?), -11, +16, dic(16;21)(q11;p12), der(17)t(7;17)(p14;p12), -19, -19, +mar1, +mar2, +mar3 | 24 |
RAEB indicates refractory anemia with excess blasts; CT, prior chemotherapy; RT, prior radiotherapy; PM: prior MDS; RE, relapse; RAEB-T, refractory anemia with excess blasts in transformation; and —, not applicable.
Disease phenotype according to the French-American-British classification.
Group as defined in “Results.”
Dominant clonal aberration or composite karyotype. Karyotypes of patients no. 1-6, 8-10, 14, 15, 17, 18, 20, 21, 24 and 28-30 were characterized using spectral karyotyping or multiplex-FISH.
References reporting previously published cases; case numbers identifying the individual patient samples in the respective reports are indicated in parentheses.