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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 2. PEComa with DVL2-TFE3 gene fusion.

Figure 2

(Case 4).

(A) Schematic representation of the fusion of DVL2 located on 17p13.1 with TFE3 on Xp11.2, resulting in a t(X;17)(p11.2;p13.1) translocation. (B) RT-PCR validation showing fusion of the DVL2 exon 4 to TFE3 exon 7 (top right), followed by DNA PCR confirming the fusion of DVL2 exon 5 with TFE3 intron 6 with anti-parallel sequence of TFE3 exon 6 and TFE3 intron 5 in-between (bottom right). (C) FISH break-apart assays showing unbalanced rearrangements of DVL2 (arrows) with loss of telomeric signal (red) and trisomy of Xp11.2 locus with TFE3 rearrangements (arrows) (t-telomeric; c-centromeric).