Genomic rearrangements involve USP16 and RUNX1 genes in CMML patients. A: CMML 88 aCGH profile of chromosome 21 shows regional deletions in 21q21.3 and 21q22.12. Arrows point to USP16 and RUNX1 genes targeted by transition profiles located in these respective regions. This suggests that potential gene breaks involve USP16 and RUNX1. B: PCR characterization of USP16-RUNX1 fusions in CMML. USP16, RUNX1 and USP16-RUNX1 transcripts were detected in the BM cells of the patients. The size of amplified products is shown on the right. The existence of alternatively spliced RUNX1 products could explain the various sizes observed for USP16-RUNX1 and RUNX1 transcripts. cDNA of normal lymphocytes were used as control. Primers specific for the human GUSB transcript were used for control of the RT-PCR quality control.
Gelsi-Boyer et al. BMC Cancer 2008 8:299 doi:10.1186/1471-2407-8-299