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This study identified the ASPL-TFE3 gene fusion created by the characteristic chromosome translocation in alveolar soft part sarcoma, giving the disease a defining molecular marker and a diagnostic test.
Molecular cloning of the unbalanced der(17)t(X;17)(p11;q25) translocation in alveolar soft part sarcoma showing fusion of the ASPL (ASPSCR1) gene on chromosome 17 to the TFE3 transcription factor gene on the X chromosome, producing a fusion transcription factor.
TFE3 immunostaining and ASPSCR1-TFE3 fusion testing confirm the diagnosis of alveolar soft part sarcoma and link it to a family of TFE3-rearranged tumours including a type of renal cell carcinoma.