Figure 1.
Karyogram of APL according to SNP-A analysis in our series.
Coloured bars depict the extension of abnormalities. Gains appear in blue at the right of each chromosome; losses in red and CN-LOH in green, at the left side of it.
Table 1.
Main characteristics of our series.
Table 2.
Detailed list of abnormalities found in our series (n = 48).
Figure 2.
Schematic representation of CNA adjacent to the translocation breakpoints found in our series.
On the left panel, the Smooth Signal of chromosome 15 and 17 from case APL_32 are represented. Results from diagnosis sample are shown in blue and from complete remission sample, in green. On the right, chromosomes 15 and 17 are depicted with G-banding and arrows pointing the location of the PML and RARA genes. Areas shaded in blue show regions duplicated and in red, deleted. Panel (A) corresponds to isochromosome der(17)t(15;17); Panel (B) shows a small duplication of the PML gene, and in panel (C) both the PML and the RARA genes are duplicated. These two cases had a cryptic t(15;17) by CC, that was revealed by FISH. In panel (D) two small deletions are found distally to the translocation breakpoints.
Figure 3.
Heatmap and pie chart depicting abnormalities found in our series in addition to the t(15;17).
Each column represents one patient. Abnormalities are listed in the Y axis and coloured in the corresponding row of the heatmap. Abnormalities detected by Conventional Cytogenetics (CC) (red) and FLT3 mutations (green) are frequent events; however, SNP-A revealed an important proportion of patients with potentially leukemogeneic abnormalities (blue). Dup: duplication: del: deletion; CNA: copy-number abnormality.
Table 3.
Comparison of type, size and number of SNP-A abnormalities in reported APL series.
Table 4.
Minimal deleted or gained regions found in APL series, their frequency and the genes included in each region.