Skip to main content

This is a preprint.

It has not yet been peer reviewed by a journal.

The National Library of Medicine is running a pilot to include preprints that result from research funded by NIH in PMC and PubMed.

medRxiv logoLink to medRxiv
[Preprint]. 2023 Dec 1:2023.12.01.23299215. [Version 1] doi: 10.1101/2023.12.01.23299215

Genomic and epigenomic analysis of plasma cell-free DNA identifies stemness features associated with worse survival in AR -altered lethal prostate cancer

Pradeep S Chauhan, Irfan Alahi, Savar Sinha, Alexander L Shiang, Ryan Mueller, Jace Webster, Ha X Dang, Debanjan Saha, Lilli Greiner, Breanna Yang, Gabris Ni, Elisa M Ledet, Ramandeep K Babbra, Wenjia Feng, Peter K Harris, Faridi Qaium, Ellen B Jaeger, Patrick J Miller, Sydney A Caputo, Oliver Sartor, Russell K Pachynski, Christopher A Maher, Aadel A Chaudhuri
PMCID: PMC10705653  PMID: 38077092

Summary

Metastatic castration-resistant prostate cancer (mCRPC) resistant to androgen receptor (AR)-targeted agents is often lethal. Unfortunately, biomarkers for this deadly disease remain under investigation, and underpinning mechanisms are ill-understood. Here, we applied deep sequencing to ∼100 mCRPC patients prior to the initiation of first-line AR-targeted therapy, which detected AR /enhancer alterations in over a third of patients, which correlated with lethality. To delve into the mechanism underlying why these patients with cell-free AR /enhancer alterations developed more lethal prostate cancer, we next performed genome-wide cell-free DNA epigenomics. Strikingly, we found that binding sites for transcription factors associated with developmental stemness were nucleosomally more accessible. These results were corroborated using cell-free DNA methylation data, as well as tumor RNA sequencing from a held-out cohort of mCRPC patients. Thus, we validated the importance of AR /enhancer alterations as a prognostic biomarker in lethal mCRPC, and showed that the underlying mechanism for lethality involves reprogramming developmental states toward increased stemness.

Full Text Availability

The license terms selected by the author(s) for this preprint version do not permit archiving in PMC. The full text is available from the preprint server.


Articles from medRxiv are provided here courtesy of Cold Spring Harbor Laboratory Preprints

RESOURCES