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This study identified the WWTR1-CAMTA1 gene fusion in nearly every epithelioid haemangioendothelioma from any body site, giving this rare vascular tumour a defining molecular marker.
Molecular study identifying a t(1;3) translocation fusing WWTR1 (encoding TAZ) to CAMTA1 in epithelioid haemangioendothelioma of soft tissue, bone, liver and lung, present in almost all cases and absent from other vascular tumours.
CAMTA1 immunohistochemistry and fusion testing confirm the diagnosis, and the TAZ-CAMTA1 fusion protein's dependence on the Hippo pathway is guiding drug development.
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