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

Nat Commun. 2016 Nov 29:7:13668. doi: 10.1038/ncomms13668.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Cell Line, Tumor
  • Chromosomes, Human, Pair 11 / genetics
  • Clone Cells
  • Exons / genetics
  • Gene Dosage
  • Gene Expression Regulation, Neoplastic
  • Gene Rearrangement / genetics*
  • Genome, Human*
  • Humans
  • Male
  • Neoplasm Metastasis
  • Prostatic Neoplasms, Castration-Resistant / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Receptors, Androgen / metabolism*

Substances

  • AR protein, human
  • RNA, Messenger
  • Receptors, Androgen