Cytogenetic distribution of chromosomal associated abnormalities in total cohort
| Cytogenetic subgroup . | t(9;22) . | t(1;19) . | t(12;21) . | t(14q32) . | t(11q23) . | del(20q) . | del(12p) . | t(9q . | abn(13q) . | del(6q) . | +8/8q . | del(7p) . | abn(11q) . | t(7q) . | del(17p) . | t(5q) . | Breakpoint/PAX5 . | Complex . | High hyper . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Centro . | Intra . | Telo . | |||||||||||||||||||
| t(9;22) | 22 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(1;19) | — | 10 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(12;21) | — | — | 9 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(14q32) | — | — | — | 5 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(11q23)/MLL | — | — | — | — | 2 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| del(20q) | 1 | — | — | — | — | 27 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| del(12p) | — | — | 5 | 1 | — | — | 21 | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(9q other than ABL1 | — | 2 | 1 | — | 1 | 4 | 2 | 21 | — | — | — | — | — | — | — | — | — | — | — | — | — |
| abn(13q) | 1 | 1 | — | — | — | 1 | 4 | 2 | 17 | — | — | — | — | — | — | — | — | — | — | — | — |
| del(6q) | — | 2 | 3 | — | — | 1 | 6 | 3 | 5 | 13 | — | — | — | — | — | — | — | — | — | — | — |
| +8/8q | 4 | — | — | — | — | 3 | 3 | — | 2 | — | 11 | — | — | — | — | — | — | — | — | — | — |
| del(7p) | 2 | 2 | 1 | 1 | 1 | — | — | 1 | 2 | — | — | 11 | — | — | — | — | — | — | — | — | — |
| abn(11q) other than MLL | 2 | 1 | 2 | — | — | 2 | 2 | 1 | 3 | 2 | 2 | 1 | 10 | — | — | — | — | — | — | — | — |
| t(7q) | — | — | — | 1 | — | 1 | — | 1 | 2 | — | — | 1 | 2 | 9 | — | — | — | — | — | — | — |
| del(17p) | 1 | 1 | — | — | — | 1 | — | — | 2 | 1 | — | 1 | — | — | 8 | — | — | — | — | — | — |
| t(5q) | 1 | — | 1 | — | — | — | — | 1 | — | — | — | 1 | — | 1 | 1 | 8 | — | — | — | — | — |
| Breakpoint/PAX5 | |||||||||||||||||||||
| Centromeric | 20 | 9 | 5 | 4 | 1 | 15 | 9 | 12 | 10 | 7 | 6 | 9 | 7 | 3 | 7 | 3 | 92 | — | — | — | — |
| Intragenic | — | — | — | 1 | 1 | 9 | 6 | 2 | 1 | 1 | 3 | 1 | 1 | 4 | 1 | 2 | 2 | 32 | — | — | — |
| Telomeric | 2 | 1 | 4 | — | — | 3 | 6 | 7 | 6 | 5 | 2 | 1 | 2 | 2 | 3 | 5 | 2 | 29 | — | — | |
| Complex | NA | NA | NA | NA | NA | 13 | 7 | 12 | 14 | 7 | 6 | 2 | 5 | 3 | 5 | 1 | 30 | 8 | 12 | 50 | — |
| High hyper | 1 | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | — | — | 2 | 1 | 2 |
| Cytogenetic subgroup . | t(9;22) . | t(1;19) . | t(12;21) . | t(14q32) . | t(11q23) . | del(20q) . | del(12p) . | t(9q . | abn(13q) . | del(6q) . | +8/8q . | del(7p) . | abn(11q) . | t(7q) . | del(17p) . | t(5q) . | Breakpoint/PAX5 . | Complex . | High hyper . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Centro . | Intra . | Telo . | |||||||||||||||||||
| t(9;22) | 22 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(1;19) | — | 10 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(12;21) | — | — | 9 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(14q32) | — | — | — | 5 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(11q23)/MLL | — | — | — | — | 2 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| del(20q) | 1 | — | — | — | — | 27 | — | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| del(12p) | — | — | 5 | 1 | — | — | 21 | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| t(9q other than ABL1 | — | 2 | 1 | — | 1 | 4 | 2 | 21 | — | — | — | — | — | — | — | — | — | — | — | — | — |
| abn(13q) | 1 | 1 | — | — | — | 1 | 4 | 2 | 17 | — | — | — | — | — | — | — | — | — | — | — | — |
| del(6q) | — | 2 | 3 | — | — | 1 | 6 | 3 | 5 | 13 | — | — | — | — | — | — | — | — | — | — | — |
| +8/8q | 4 | — | — | — | — | 3 | 3 | — | 2 | — | 11 | — | — | — | — | — | — | — | — | — | — |
| del(7p) | 2 | 2 | 1 | 1 | 1 | — | — | 1 | 2 | — | — | 11 | — | — | — | — | — | — | — | — | — |
| abn(11q) other than MLL | 2 | 1 | 2 | — | — | 2 | 2 | 1 | 3 | 2 | 2 | 1 | 10 | — | — | — | — | — | — | — | — |
| t(7q) | — | — | — | 1 | — | 1 | — | 1 | 2 | — | — | 1 | 2 | 9 | — | — | — | — | — | — | — |
| del(17p) | 1 | 1 | — | — | — | 1 | — | — | 2 | 1 | — | 1 | — | — | 8 | — | — | — | — | — | — |
| t(5q) | 1 | — | 1 | — | — | — | — | 1 | — | — | — | 1 | — | 1 | 1 | 8 | — | — | — | — | — |
| Breakpoint/PAX5 | |||||||||||||||||||||
| Centromeric | 20 | 9 | 5 | 4 | 1 | 15 | 9 | 12 | 10 | 7 | 6 | 9 | 7 | 3 | 7 | 3 | 92 | — | — | — | — |
| Intragenic | — | — | — | 1 | 1 | 9 | 6 | 2 | 1 | 1 | 3 | 1 | 1 | 4 | 1 | 2 | 2 | 32 | — | — | — |
| Telomeric | 2 | 1 | 4 | — | — | 3 | 6 | 7 | 6 | 5 | 2 | 1 | 2 | 2 | 3 | 5 | 2 | 29 | — | — | |
| Complex | NA | NA | NA | NA | NA | 13 | 7 | 12 | 14 | 7 | 6 | 2 | 5 | 3 | 5 | 1 | 30 | 8 | 12 | 50 | — |
| High hyper | 1 | — | — | — | — | — | — | 1 | — | — | — | — | — | — | — | — | — | — | 2 | 1 | 2 |
Patients were classified according to the presence of the following chromosomal abnormalities: t(9;22)(q34;q11)/BCR-ABL1, t(1;19)(q23;p13)/TCF3-PBX1, t(12;21)(p13;q22)/ ETV6-RUNX1, 11q23 translocations/MLL, 14q32 translocations/IGH, and the chromosomal regions most often disrupted in this cohort (≥ 8 patients): 20q deletion, 12p deletion, 9q translocation different from 9q34/ABL1, 13q abnormalities (deletion or translocation), 6q deletion, trisomy 8 or 8q gain, 7p deletion, 11q abnormalities different from 11q23/MLL, 7q translocation, 17p deletion, 5q translocation, high hyperdiploidy, and complex karyotype, excluding those patients with t(9;22), t(1;19), t(12;21), 14q32/IGH, and 11q23/MLL. For patients with such recurrent translocations, complexity calculation was NA. 9p breakpoint localization was mapped by cytogenetic analysis and was indicated in the table according to PAX5 probe position (centromeric, telomeric, and intragenic). Therefore, the submicroscopic deletions of PAX5 exons, not detectable by cytogenetic methods, were not investigated.
— indicates no case; and NA, not applicable.