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. Author manuscript; available in PMC: 2016 Jun 1.
Published in final edited form as: Am J Surg Pathol. 2015 Jun;39(6):813–825. doi: 10.1097/PAS.0000000000000389

Figure 3. RAD51B-associated gene fusion in uterine PEComa (Case 10).

Figure 3

(A) Schematic representation of the two fusion transcript candidates identified by RNAseq, involving the RAD51B locus on 14q24.1 with RRAGB located on xp11.2, resulting in a t(x;14)(p11.2;q24.1) translocation, and the other involving the RAD51B with OPHN1 gene on xq12 resulting in a t(x;14)(q12;q24.1); (B) Fusion candidates were validated by RT-PCR showing fusion of the RAD51B exon 8 to RRAGB exon 2 with an intervening intronic sequence of Xp11.21, and the fusion of RAD51B exon 3 with OPHN1 exon 17. (C) FISH break-apart assays showing unbalanced rearrangement of RAD51B gene (arrows) with loss of the telomeric signal (upper left). FISH break-apart assay showing unbalanced rearrangement of RRAGB gene (arrows) on Xp11.21 with loss of the telomeric signal (lower left); FISH for OPHN1 gene on Xq12 showing loss of one copy of signals, indicating a larger deletion at this locus (upper right). The RAD51B-OPHN1 fusion assay (lower right) showing fusion of the RAD51B (red) with a small fragment of OPHN1 (green) gene (arrows), suggesting a deletion in the OPHN1 gene locus. (t-telomeric; c-centromeric) (D) Bar chart showing increased expression of RRAGB in PEC10 compared to other PEComas. The dot plot further shows the differential exon expression of RRAGB (case 9, after the exon 2 breakpoint) compared to other PEComas.