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. Author manuscript; available in PMC: 2017 Feb 1.
Published in final edited form as: Am J Surg Pathol. 2016 Feb;40(2):224–235. doi: 10.1097/PAS.0000000000000538

Figure 2. Novel VGLL2-NCOA2 complex fusion in congenital/infantile SRMS by 5’RACE.

Figure 2

As VGLL2 and NCOA2 genes have opposite directions of transcription a functional fusion requires a break/inversion of one of the partners. (A) Schematic view of the intragenic VGLL2 break and inversion, confirmed by VGLL2 break-apart FISH with constant split signals (yellow, centromeric; green, telomeric). (B) Schematic diagram of the t(6;8) translocation, fusing the 5’VGLL2 portion to the 3’NCOA2; subsequent FISH validation using 3-color VGLL2-NCOA2 fusion assay (arrow showing fused red-yellow signals; yellow, centromeric of VGLL2; red, centromeric of NCOA2); (C) 5’RACE showing the fusion of VGLL2 exon 2 to NCOA2 exon 14 (SRMS3).