The oncogenic fusion protein TAZ::CAMTA1 promotes genomic instability and senescence through hypertranscription

Commun Biol. 2023 Nov 18;6(1):1174. doi: 10.1038/s42003-023-05540-4.

Abstract

TAZ::CAMTA1 is a fusion protein found in over 90% of Epithelioid Hemangioendothelioma (EHE), a rare vascular sarcoma with an unpredictable disease course. To date, how TAZ::CAMTA1 initiates tumour formation remains unexplained. To study the oncogenic mechanism leading to EHE initiation, we developed a model system whereby TAZ::CAMTA1 expression is induced by doxycycline in primary endothelial cells. Using this model, we establish that upon TAZ::CAMTA1 expression endothelial cells rapidly enter a hypertranscription state, triggering considerable DNA damage. As a result, TC-expressing cells become trapped in S phase. Additionally, TAZ::CAMTA1-expressing endothelial cells have impaired homologous recombination, as shown by reduced BRCA1 and RAD51 foci formation. Consequently, the DNA damage remains unrepaired and TAZ::CAMTA1-expressing cells enter senescence. Knockout of Cdkn2a, the most common secondary mutation found in EHE, allows senescence bypass and uncontrolled growth. Together, this provides a mechanistic explanation for the clinical course of EHE and offers novel insight into therapeutic options.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium-Binding Proteins / genetics
  • Endothelial Cells / pathology
  • Genomic Instability
  • Hemangioendothelioma, Epithelioid* / genetics
  • Hemangioendothelioma, Epithelioid* / pathology
  • Humans
  • Oncogene Proteins, Fusion / genetics
  • Trans-Activators* / genetics
  • Transcription Factors / genetics
  • Transcriptional Coactivator with PDZ-Binding Motif Proteins

Substances

  • Trans-Activators
  • Transcriptional Coactivator with PDZ-Binding Motif Proteins
  • Calcium-Binding Proteins
  • Transcription Factors
  • Oncogene Proteins, Fusion
  • CAMTA1 protein, human