Fig. 1.

ETV6–NTRK3 fusion. a Whole-genome sequencing revealed a t(12;15)(p13.2;q25.3) translocation, resulting in an in-frame ETV6–NTRK3 fusion, denoted by black solid and dashed lines. The ETV6-breakpoint differs from the common ETV6-RUNX1 translocation hotspot, which is indicated (*). b The first 154 ETV6, and last 374 NTRK3 amino acids (AA) are fused, retaining ETV6′s sterile alpha motif (SAM) domain, as well as NTRK3′s protein tyrosine kinase (PTK) domain. Exon–exon boundaries are indicated with dashed vertical lines. c RNA-Seq confirmed the expression of the ETV6–NTRK3 fusion, with 62 sequencing reads supporting the breakpoint junction. Exons are numbered. RPM: reads per million mapped reads. ETV6 (NM_001987) and NTRK3 (NM_001012338) isoforms used in all figures