Recent cytogenetic studies show that ASPS exhibits a conserved abnormality in the form of an unbalanced translocation der(17)t(X;17)(p11;q25), which fuses the N-terminal region of the alveolar soft-part locus gene (ASPL), located at 17q25, to the C-terminal region of the transcription factor E3 (TFE3), located at Xp11. This evidence concerns the gene ASPSCR1 and alveolar soft part sarcoma.