[HTML][HTML] Truncation and constitutive activation of the androgen receptor by diverse genomic rearrangements in prostate cancer

C Henzler, Y Li, R Yang, T McBride, Y Ho… - Nature …, 2016 - nature.com
C Henzler, Y Li, R Yang, T McBride, Y Ho, C Sprenger, G Liu, I Coleman, B Lakely, R Li…
Nature communications, 2016nature.com
Molecularly targeted therapies for advanced prostate cancer include castration modalities
that suppress ligand-dependent transcriptional activity of the androgen receptor (AR).
However, persistent AR signalling undermines therapeutic efficacy and promotes
progression to lethal castration-resistant prostate cancer (CRPC), even when patients are
treated with potent second-generation AR-targeted therapies abiraterone and enzalutamide.
Here we define diverse AR genomic structural rearrangements (AR-GSRs) as a class of …
Abstract
Molecularly targeted therapies for advanced prostate cancer include castration modalities that suppress ligand-dependent transcriptional activity of the androgen receptor (AR). However, persistent AR signalling undermines therapeutic efficacy and promotes progression to lethal castration-resistant prostate cancer (CRPC), even when patients are treated with potent second-generation AR-targeted therapies abiraterone and enzalutamide. Here we define diverse AR genomic structural rearrangements (AR-GSRs) as a class of molecular alterations occurring in one third of CRPC-stage tumours. AR-GSRs occur in the context of copy-neutral and amplified AR and display heterogeneity in breakpoint location, rearrangement class and sub-clonal enrichment in tumours within and between patients. Despite this heterogeneity, one common outcome in tumours with high sub-clonal enrichment of AR-GSRs is outlier expression of diverse AR variant species lacking the ligand-binding domain and possessing ligand-independent transcriptional activity. Collectively, these findings reveal AR-GSRs as important drivers of persistent AR signalling in CRPC.
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