Table 2. Balanced and Unbalanced Translocations in MDS patients.
| No. | Age/ Sex | Translocation | Karyotype | Diagnosis | Translocation reported | Genes (breakpoints) | IPSS-R | Tx | AL | OS (mo) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 64/M | der(7)t(1;7)(q21;q11.2) | CK | RAEB-2 | 1q21b,c / 7q11a | HIP1 (7q11) | VH | HMA | No | 0.6 (Died) |
| 2 | 67/M | der(20)t(12;20)(q13;q13.3) | CK, MK | RCMD | 12q13b,c / 20q13b,c | NCOA3 (20q13) | VH | HMA | No | 1.5 (Died) |
| 3 | 65/M | der(3)t(3;7)(p14;p13) | CK, MK | RAEB-1 | 3p14a / 7p13a,c | - | VH | HMA | No | 8.2 (Died) |
| 4 | 86/F | t(4;16;12)(q25;p13.3;q13) | AA | RAEB-1 | 4q25b / 16p13b / 12q13b,c | CREBBP, GLIS2, MYH11 (16p13) | I | BSC | No | 58.7 (Alive) |
| 5 | 42/F | der(5)t(5;11)(q22;q13) | CK | RAEB-1 | 5q22b,c / 11q13b | MACROD1, NUMA1 (11q13) | VH | HMA | Yes | 13.3 (Died) |
| 6 | 75/M | der(14;20)t(14;20)(q10;p10) | CK, MK | RAEB-1 | 14q10b / 20p10a | - | VH | BSC | No | 2.1 (Died) |
| 7 | 60/F | der(1)t(1;7)(q10;p10) | MK | MDS-U | 1q10b / 7p10b,c | - | I | HSCT | No | 20.3 (Died) |
| 8 | 64/M | t(3;?)(q21;?) | CK, MK | RAEB-2 | 3q21b | GATA2, RPN1 (3q21) | VH | HMA | No | 1.0 (Died) |
| 9 | 78/F | der(12)t(12;14)(p13;q11.2) | CK, MK | RCMD | 12p13b / 14q11a,c | ETV6, KDM5A, ZNF384 (12p13) | VH | BSC | No | 0.2 (Died) |
| 10 | 74/F | der(11)t(11;11)(q23;p15) | CK | RAEB-2 | 11p15b / 11q23b | NUP98 (11p15), MLL (11q23) | VH | HMA | Yes | 12.6 (Died) |
| 11 | 66/M | der(5)t(X;5)(q22;q13) | CK | RAEB-1 | Xq22a / 5q13b,c | - | VH | BSC | No | 0.5 (Died) |
| 12 | 83/M | der(5)t(5;7)(q22;p13) | CK, MK | RCMD | 5q2b / 7p13a,c | - | VH | HMA | No | 12.2 (Loss) |
| 13 | 65/M | t(7;10)(q10;p10) | CK, MK | RAEB-2 | 7q10b / 10p10a | - | VH | HMA | No | 14.1 (Died) |
| 14 | 77/F | der(7)t(1;7)(p22;p10), der(17)t(8;17)(q13;p12) | CK, MK | RAEB-2 | 1p22b,c / 7p10b,c / 8q13a / 17p12b | CLCA2 (1p22), NCOA2 (8q13) | VH | HMA | Yes | 12.5 (Loss) |
| 15 | 68/M | t(17;21)(q21;q22) | AA | RCMD | Acute leukemia | H | HMA | No | 31.8 (Died) | |
| 16 | 76/M | der(16)t(7;16)(p15;p13.1), t(1;6)(p31;q21), t(12;15)(q13;q11.2) | CK, MK | RAEB-2 | 7p15b / 16p13b / 1p31a / 6q21b / 12q13b,c / 15q11a,c | HOXA9 (7p15), FOXO3 (6q21) | VH | HMA | Yes | 13.5 (Died) |
| 17 | 72/M | der(22)t(22;?)(q10;?) | CK, MK | RCMD | 22q10a | - | VH | BSC | No | 2.4 (Died) |
| 18 | 60/F | der(16)t(16;17)(q13;q11.2) | CK, MK | RAEB-2 | 16q13b / 17q11a | KSR1, WSB1, MYO18A, GOSR1, ZNF207, NF1 (17q11) | VH | HMA | Yes | 23.4 (Died) |
| 19 | 31/F | der(8)t(8;20)(q10;q12) | CK | RCUD | 8q10b / 20q12b | TOP1 (20q12) | H | BSC | No | 12.9 (Loss) |
| 20 | 42/M | der(6)t(1;6)(q21;p23) | AA | RAEB-1 | 1q21b,c / 6p23b,c | - | H | HMA | No | 2.3 (Died) |
| 21 | 60/M | der(5)t(5;15)(q13;q11.2) | CK, MK | RCMD | 5q13b,c / 15q11a,c | - | H | HMA | No | 9.9 (Died) |
| 22 | 52/M | der(7)t(1;7)(q12q36) | AA | RAEB-2 | 7q36b | EZH2, MNX1 (7q36) | VH | HMA | Yes | 6.5 (Died) |
| 23 | 71/M | t(1;7)(p22;q32) | CK, MK | RAEB-1 | 1p22b,c / 7q32b | - | VH | HMA | No | 1.1 (Died) |
| 24 | 60/M | der(2)t(2;10)(p?25;q?22), der(5)t(5;14)(q22;q11.2), der(6)t(6;10)(p23;q22) | CK, MK | RCMD | 2p25a / 10q22b,c / 5q22b,c / 14q11a,c / 6p23b,c | KAT6B, KCNMA1 (10q22) | VH | HMA | No | 1.5 (Died) |
| 25 | 56/M | t(5;7)(q13;q22) | CK | RAEB-2 | 5q13b,c / 7q22b | ZNF789, ZNF394 (7q22) | H | HMA | No | 57.2 (Loss) |
| 26 | 67/F | der(17)t(12;17)(q12;p11.2) | CK, MK | RAEB-2 | 12q12a / 17p11b | CPNE8 (12q12), SPECC1 (17p11) | VH | HMA | No | 33.7 (Loss) |
| 27 | 34/F | der(7)t(6;7)(p21;p22) | CK, MK | RAEB-2 | AML | VH | HSCT | Yes | 13.4 (Died) | |
| 28 | 63/F | t(1;14)(p36.1;q24) | CK | RAEB-2 | 1p36b /14q24a | CDK11B, PRDM16, MTOR (1p36) | VH | HMA | No | 12.4 (Died) |
| 29 | 57/F | der(16)t(1;16)(q21;q22) | A | MDS-U | 1q21b,c /16q22b | CBFB, NFATC3, PLA2G15 (16q22) | I | BSC | No | 96.7 (Alive) |
| 30 | 77/F | der(12)t(7;12)(p11.2;p11.2) | CK, MK | RAEB-2 | 7p11b / 12p11b | FGFR1OP2 (12p11) | VH | HMA | No | 5.0 (Loss) |
| 31 | 56/M | der(6)t(6;13)(p12;q22) | CK, MK | RAEB-2 | 6p12a / 13q22b | CLN5, FBXL3 (13q12) | VH | HMA | Yes | 6.8 (Died) |
| 32 | 35/F | t(1:19)(q21:q13) | CK | RCMD | 1q21b,c /19q13b | CEBPA (19q13) | H | BSC | No | 0.9 (Died) |
| 33 | 64/F | t(9;22)(q34;q11.2) | CK | RAEB-2 | AML, RAEB-2 | VH | HMA | No | 7.2 (Died) | |
| 34 | 65/M | der(1)t(1;10)(p13;q24) | A | RAEB-1 | 1p13b / 10q24a | NRAS, RBM15, DDX20 (1p13), GOT1, NT5C2 (10q24) | H | HMA | No | 21.0 (Died) |
| 35 | 65/F | del(20)t(1;20)(q11;q13.3) | A | RCUD | 1q11b / 20q13b,c | NCOA3 (20q13) | I | BSC | No | 7.1 (Died) |
| 36 | 67/M | del(13)t(5;13)(q21;q14),der(7)t(5;7)(p14;p13) | CK, MK | RAEB-2 | 5q21b / 13q1b, 5p14a / 7p13a,c | - | H | HMA | No | 12.0 (Died) |
| 37 | 76/F | t(X;11)(q13;q25) | CK, MK | RAEB-1 | Xq13b/ 11q25b | FOXO4 (Xq13) | VH | HMA | Yes | 4.0 (Died) |
| 38 | 70/M | t(4;14)(q35;q22) | A | RCMD | 4q35a / 14q22b | - | L | BSC | No | 88.5 (Alive) |
| 39 | 79/M | t(11;21)(p13;q21) | CK, MK | RAEB-2 | 21q22b | RUNX1 (21q22) | VH | BSC | No | 3.2 (Died) |
| 40 | 58/M | t(x:5)(q24;p15.3) | AA | RAEB-2 | Xq24a / 5p15a | SEPT6 (Xq24) | H | HMA, HSCT | Yes | 20.7 (Died) |
Abbreviations: CK, complex karyotype; MK, monosomal karyotype; AA, associated with another chromosomal abnormality; A, isolated chromosomal abnormality; RCUD, refractory cytopenia with unilineage dysplasia; RCMD, refractory cytopenia with multilineage dysplasia; RAEB refractory anemia with excess blasts; MDS-U, MDS unclassified;.IPSS-R, revised International Prognostic Scoring System; Tx, treatment; HMA, hypomethylating agent; BSC, best supportive care; HSCT, hematopoietic stem cell transplantation; AL, evaluation to acute leukemia; OS, overall survival.
aBreakpoints reported in AML.
bBreakpoints reported in both AML and MDS.
cBreakpoints reported more than 2 times in this study population.