Table 1.
Cytogenetic groups identified in a large series of CML patients at diagnosis
| Cases | Chromosomal rearrangements | Ph chromosome | Deletions |
5'BCR/3'ABL location |
5'ABL/3'BCR location |
|---|---|---|---|---|---|
| Variant t(9;22) | |||||
| #1 | t(1;9;22)(q32.1;q34;q11) | Ph+ | del(1)(q32), del(9)(q34), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR on der(1) |
| #2 | t(1;9;22)(p34.2;q34;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(1) |
| #3 | der(9)t(9;22)(q34;q11), der(1)ins(1;22) (p36;q11q13), der(22)t(9;22) |
Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(1) |
| #4 | t(2;9;22)(q37.1;q34;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(2) |
| #5 | t(3;9;22)(p21.31;q34;q11) | Ph+ | del(22)(q11) | Ph | 5'ABL on der(9), 3'BCR on der(3) |
| #6 | t(3;9;22)(p21.31;q34;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(3) |
| #7 | t(3;9;22)(p21.31;q34;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(3) |
| #8 | t(4;9;22)(p16.3;q34;q11) | Ph+ | del(9)(q34) | Ph | 5'ABL on der(4), 3'BCR on der(4) |
| #9 | t(4;9;22)(p16;q34;q11) | Ph+ | del(9)(q34), del(22)(q11) | Ph | 5'ABL on der(4), 3'BCR deleted |
| #10 | t(4;9;22)(q12;q34;q11) | Ph+ | del(4)(q12), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR on der(4) |
| #11 | t(4;9;22)(p16.2;q34;q11) | Ph+ | del(4)(p16), del(9)(q34), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR deleted |
| #12 | t(6;9;22)(p12.3;q34;q11) | Ph+ | del(6)(p12), del(9)(q34) | Ph | 5'ABL deleted, 3'BCR on der(6) |
| #13 | t(6;9;22)(p21.31;q34;q11) | Ph+ | del(6)(p21p21), del(9)(q34q34), del(22)(q11q11) |
Ph | 5'ABL deleted, 3'BCR on der(6) |
| #14 | t(6;9;22)(q14.1;q34;q11) | Ph+(×2) | - | Ph | 5'ABL on der(9), 3'BCR on der(6) |
| #15 | t(7;9;22)(p14.3;q34;q11) | Ph+ | del(7)(p14), del(9)(q34), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR deleted |
| #16 | t(7;9;22)(p22;q34;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(7) |
| #17 | der(9)t(9;22)(q34;q11), der(9)ins(9;9) (q34;q22q34) |
Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #18 | t(9;22;9;14)(q34;q11;p12;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #19 | t(9;11;22)(q34;q13.1;q11) | Ph+ | del(9)(q34), del(11)(q13), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR deleted |
| #20 | t(9;11;22)(q34;q21;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(11) |
| #21 | t(9;12;22)(q34;q23.3;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(12) |
| #22 | t(9;12;22)(q34;q13.2;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #23 | t(9;12;22)(q34;q24.31;q11) | Ph+ | del(9)(q34), del(12)(q24), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR on der(12) |
| #24 | t(9;12;22)(q34;q24.21;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(12) |
| #25 | t(9;13;22)(q34;q14.12;q11) | Ph+ | del(9)(q33q34), del(13)(q14), del(22)(q11) | Ph | 5'ABL on der(13), 3'BCR deleted |
| #26 | der(9)t(9;22)(q34;q11), der(14)ins(14;9)(q32;q34q34), der(22)t(9;22) |
Ph+ | del(9)(q34), del(22)(q11) | Ph | 5'ABL on der(14), 3'BCR on der(14) |
| #27 | t(9;14;15;22)(q34;q24.2;?;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(14) |
| #28 | t(9;15;22)(q34;q24.3;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(15) |
| #29 | t(9;16;22) (q34;p11.2;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(16) |
| #30 | t(9;16;17;22)(q34;q24.3;p13.1;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(17) |
| #31 | t(9;17;22)(q34;q21.2;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #32 | t(9;17;22) (q34;q25.3;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(17) |
| #33 | t(9;17;22) (q34;p13.3;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(17) |
| #34 | t(9;19;22)(q34;q13.32;q11) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(19) |
| #35 | t(9;21;22)(q34;q22.13;q11) | Ph+ | del(9)(q34), del(21)(q22), del(22)(q11) | Ph | 5'ABL deleted, 3'BCR deleted |
| #36 | t(9;X;22)(q34;q13.1;q11) | Ph+ | del(9)(q33q34) | Ph | 5'ABL deleted, 3'BCR on der(X) |
| #37 | t(7;9;22)(q22.2;q34;q11) | masked Ph | - | der(7) | 5'ABL on der(9), 3'BCR on der(9) |
| #38 | t(8;9;22)(p12;q34;q11) | masked Ph | - | der(8) | 5'ABL on der(9), 3'BCR on der(9) |
| #39 | t(9;10;22)(q34;p11.22;q11) | masked Ph | del(9)(q34), del(22)(q11) | der(10) | 5'ABL deleted, 3'BCR deleted |
| #40 | t(9;15;22)(q34;q24.1;q11) | masked Ph | - | der(22) | 5'ABL on der(9), 3'BCR on der(9) |
| #41 | t(6;9;12;22)(p22.1;q34;q13.13;q11) | masked Ph | del(9)(q34) | der(22) | 5'ABL on der(9), 3'BCR on der(6) |
| #42* | der(9)ins(9;22)(q34;q11q11), der(22)t(20;22)(q13.33;q11) |
masked Ph | - | der(9) | 5'ABL on der(9), 3'BCR on der(20) |
| #43* | der(22)t(12;22)(p13;q11)ins(22;9)(q11;q34q34) | masked Ph | del(9)(q34) | der(22) | 5'ABL deleted, 3'BCR on der(12) |
| Cryptic insertions | |||||
| #44 | ins(9;22)(q34;q11q11) | Ph- | del(9)(q34), del(22)(q11q12) | der(9) | 5'ABL deleted, 3'BCR on der(22) |
| #45 | der(22)t(9;22)(q34;q11)ins(22;22)(q11;q11q12) | Ph- | - | der(22) | 5'ABL on der(9), 3'BCR on der(22) |
| #46* | der(9)ins(22;9)(q11;q34q34)t(9;11)(p22.3;p15.4) | Ph- | - | der(22) | 5'ABL on der(9), 3'BCR on der(22) |
| #47* | ins(9;22)(q34;q11q11), t(1;20;21) | Ph- | - | der(9) | 5'ABL on der(9), 3'BCR on der(22) |
| #42* | der(9)ins(9;22)(q34;q11q11), der(22)t(20;22)(q13.33;q11) |
masked Ph | - | der(9) | 5'ABL on der(9), 3'BCR on der(20) |
| #43* | der(22)t(12;22)(p13;q11)ins(22;9)(q11;q34q34) | masked Ph | del(9)(q34) | der(22) | 5'ABL deleted, 3'BCR on der(12) |
| Additional chromosomal rearrangements | |||||
| #48 | t(9;22)(q34;q11), del(11)(q14q24) | Ph+ | del(11)(q14q24) | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #49 | t(9;22)(q34;q11), t(14;15)(q32.31;q24.1) | Ph+ | del(14)(q32), del(22)(q11) | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #50 | der(9)t(9;22)(q34;q11)t(9;11)(p24.1;q12.1) | Ph+ | - | Ph | 5'ABL on der(9), 3'BCR on der(9) |
| #46* | der(9)ins(22;9)(q11;q34q34)t(9;11)(p22.3;p15.4) | Ph- | - | der(22) | 5'ABL on der(9), 3'BCR on der(22) |
| #47* | ins(9;22)(q34;q11q11), t(1;20;21) | Ph- | - | der(9) | 5'ABL on der(9), 3'BCR on der(22) |
Three subgroups of CML patients have been identified according to the chromosomal rearrangements detected by FISH experiments: cases showing variant t(9;22) rearrangements, patients characterized by cryptic insertions of the ABL1 into the BCR region (or vice versa), and cases bearing additional chromosomal abnormalities. Cases #1- #36 showed a Ph+ chromosome together with a masked der(9) whereas a masked Ph in association with a classic der(9) was revealed in patients #37- #43. For each subgroup, the chromosomal rearrangements identified, the appearance of the der(22) chromosome, the occurrence of microdeletions next to chromosomal breakpoints, the location of the 5'BCR/3'ABL1 and of the 3'ABL1/5'BCR fusion genes are reported.
* indicates cases included in several cytogenetic subgroups.