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Fig. 1 | Molecular Cancer

Fig. 1

From: RUNX1 upregulation via disruption of long-range transcriptional control by a novel t(5;21)(q13;q22) translocation in acute myeloid leukemia

Fig. 1

Characterization of the t(5;21) translocation breakpoints and its impact on RUNX1 expression. a A representative karyotype from the relapsed AML BM of the patient revealed 46,XY,t(5;21)(q13;q22). The breakpoint regions on the derivative chromosomes 5 and 21 are arrowed. b FISH performed on a G-banded metaphase from the relapsed AML BM with the ETV6/RUNX1 dual-color translocation probe showing RUNX1 translocation to chromosome 5. The two green signals represent ETV6. c Chromosome 5q13 and 21q22 breakpoints mapped by WGS. The breakpoint locations (red arrows) are shown (hg19). P1 and P2 represent the two RUNX1 promoters. The green oval represents the silencer identified in this study. d Breakpoint-specific PCR and Sanger sequencing revealed identical breakpoint sequences in the MDS-transformed (AML-t) and relapsed (AML-r) AML BM samples. No PCR product was obtained from the initial MDS and post-transplant (PT) BM. e RUNX1 mRNA levels in BM collected at different disease states (MDS, PT and AML-r). RNA extracted from the MDS-transformed AML BM was of unsuitable quality for expression studies. Results are expressed as mean ± standard error (SE) from three independent experiments

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