key papersKey paper
A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid haemangioendothelioma
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.
Overview
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.
Basic scienceChanged practice
Authors
Errani C, Zhang L, Sung YS, et al.
Published
Full text
Findings
- WWTR1-CAMTA1 fusion in the vast majority of epithelioid haemangioendotheliomas across sites.
What it means
CAMTA1 immunohistochemistry and fusion testing confirm the diagnosis, and the TAZ-CAMTA1 fusion protein's dependence on the Hippo pathway is guiding drug development.
Caveats
- A minority of cases carry an alternative YAP1-TFE3 fusion.