Supplementary Figure 6: SH3PXD2A-HTRA1 fusion expression in schwannomas.

(a) Quantitative real-time PCR using probes specific to the fusion breakpoint confirms the SH3PXD2A-HTRA1 fusion in 7/51 RNA samples from FFPE tissues (out of a total detection rate of 12/125 (10%) of our samples). (b) Alignment to an in silico reconstruction of the HTRA1-SH3PXD2A fusion, with discordant RNA reads mapping across the fusion junction. (c) Validation RT-PCR using primers specific to the HTRA1-SH3PXD2A fusion to confirm presence of the fusion identified from deFuse RNA-Seq analysis. (d) Sanger sequencing confirms the fusion sequence at the breakpoint. (e) RT-PCR for the SH3PXD2A-HTRA1 fusion in 20 vestibular schwannomas from NF2 patients. (f) The two positive cases (5 and 9) have the fusion in the tumor but not in blood.