USP16-RUNX1 rearrangement in CMML 88. Organization of chromosomal region 21q21.3-q22.12 with the location of the breakpoints (BP) and deleted regions from centromere (cen) to telomere (tel). Mb scale of the corresponding 21q21.3, 21q22.11 and 21q22.12 regions corresponds to cytogenetic bands. Only genes flanking affected regions are reported on the figure. Breakpoints BP1 and BP3 targeting USP16 and RUNX1 are associated with deletions defined by intervals [BP1-BP2] and [BP3-BP4]. The USP16-RUNX1 gene fusion is explained by the inversion of the central interval [BP2-BP3]. ATG codons are in exon 2 (ex 2) and exon 1 (ex 1) of USP16 and RUNX1, respectively.
Gelsi-Boyer et al. BMC Cancer 2008 8:299 doi:10.1186/1471-2407-8-299