The ETV6 gene,, located on 12p13.2, encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. ETV6 is a DNA-binding protein involved in transcription regulation during embryonic development and hematopoiesis. ETV6 variants—rearrangements, in particular—have been observed in myelodysplastic syndromes, other hematologic malignancies, and sarcomas.

Infantile fibrosarcoma (IFS) is a soft-tissue sarcoma that arises in the first year of life and is the most common non-rhabdomyosarcoma in this age group. Classically, IFS is driven by the t(12;15)(p13;q25) translocation encoding the ETV6–NTRK3 fusion protein.