Figures & data
Figure 1. Molecular analysis of white blood cell DNA performed at RUMC. The karyotype did not show the expected t(15;17) rearrangement (a), but interphase and metaphase FISH revealed separation of the green and orange RARA break apart (BA) probe signals from their location on chromosome 17 (white arrows, b and c). Interphase and metaphase FISH with single fusion (SF) PML and RARA probes revealed the movement of RARA to chromosome 15 at the location of PML as a small yellow fusion signal (white arrows, d and e). The PML-RARA fusion gene was detected by reverse transcriptase PCR using primers to exon 3 and exon 6 of the PML gene and reverse primer to exon 3 of RARA (f: Lane 1, molecular weight standard, lane 2 PML exon 6 forward primer, lane 3 PML exon 3 forward primer lane 4, RARA exon 2 forward primer, lane 5 reagent blank). The major PCR product detected at about 500 bp (starred, lane 3) contained exons 3–6 of the PML gene.
![Figure 1. Molecular analysis of white blood cell DNA performed at RUMC. The karyotype did not show the expected t(15;17) rearrangement (a), but interphase and metaphase FISH revealed separation of the green and orange RARA break apart (BA) probe signals from their location on chromosome 17 (white arrows, b and c). Interphase and metaphase FISH with single fusion (SF) PML and RARA probes revealed the movement of RARA to chromosome 15 at the location of PML as a small yellow fusion signal (white arrows, d and e). The PML-RARA fusion gene was detected by reverse transcriptase PCR using primers to exon 3 and exon 6 of the PML gene and reverse primer to exon 3 of RARA (f: Lane 1, molecular weight standard, lane 2 PML exon 6 forward primer, lane 3 PML exon 3 forward primer lane 4, RARA exon 2 forward primer, lane 5 reagent blank). The major PCR product detected at about 500 bp (starred, lane 3) contained exons 3–6 of the PML gene.](/cms/asset/25c7c4c2-3283-4469-b0be-8814f52e2155/ionc_a_1817551_f0001_c.jpg)
Figure 2. Structure and suggested structure of classical and cryptic translocations. Binding location of the single fusion (SF), break apart (BA) probes and RT-qPCR primers (arrows) are shown. In the classical APL t(15;17) translocations, the PML gene breaks at three breakpoint cluster regions (bcrs): intron 6 (bcr1), exon 6 (bcr2) and intron 3 (bcr3). RARA breakpoints occur in intron 2. A proposed structure based molecular analysis includes intra-chromosomal rearrangement of PML in addition to the insertion of RARA.
![Figure 2. Structure and suggested structure of classical and cryptic translocations. Binding location of the single fusion (SF), break apart (BA) probes and RT-qPCR primers (arrows) are shown. In the classical APL t(15;17) translocations, the PML gene breaks at three breakpoint cluster regions (bcrs): intron 6 (bcr1), exon 6 (bcr2) and intron 3 (bcr3). RARA breakpoints occur in intron 2. A proposed structure based molecular analysis includes intra-chromosomal rearrangement of PML in addition to the insertion of RARA.](/cms/asset/c7b3a99b-12fe-4efb-91ed-7561d1dcf871/ionc_a_1817551_f0002_c.jpg)