Figure 1. MiT/TFE gene rearrangements and mutational landscape of UTSW tRCC cohort.
(A) Circos plot with weighted lines for MiT/TFE gene fusions identified by RNA-Seq (n = 24). A previously unreported SFPQ-TFEB gene fusion t(6;1) (p21.1; p34.3) is shown in red. Where available, tumorgrafts are included in the periphery. (B–D) Characterization of novel SFPQ-TFEB tRCC case (KC03025) by H&E (B), TFEB IHC (C), and FISH using TFEB break-apart probes stained with CytoRed and CytoGreen (D). Scale bar: 50 μm (B and C). (E) Illustration of SFPQ-TFEB chimeric transcript. RRM, RNA recognition motif; TAD, transcription activation domain; bHLH, basic helix-loop-helix domain; LZ, leucine zipper. (F) Sanger sequencing electropherogram (one direction shown) of SFPQ-TFE3 gene fusion cDNA. (G) Oncoprint representation of somatic mutations for COSMIC database genes in tRCC cohort (n = 30).