key papersKey paper
The der(17)t(X;17) of alveolar soft part sarcoma fuses TFE3 to ASPL
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.
Overview
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.
Basic scienceChanged practice
Authors
Ladanyi M, Lui MY, Antonescu CR, et al.
Published
Oncogene, 2001
Findings
- ASPL-TFE3 fusion identified as the consistent alteration in alveolar soft part sarcoma.
What it means
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.
Caveats
- No direct therapeutic target has followed from the fusion itself.