Intraindividual epigenetic heterogeneity underlying phenotypic subtypes of advanced prostate cancer

K Kei Mizuno S Sheng-Yu Ku V Varadha Balaji Venkadakrishnan M Martin K. Bakht M Michael Sigouros J Joanna Chan A Anna Trigos J Jordan H. Driskill J Jyothi Manohar A Abigail King A Adam G. Presser M Min Jin Kim A Alok K. Tewari (Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School) H Henry W. Long (Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute) D David Quigley (Department of Physics, University of Warwick 2 , Gibbet Hill Road, Coventry CV4 7AL,) T Toni K. Choueiri (Department of Medical Oncology Dana‐Farber Cancer Institute Boston Massachusetts USA) S Steven Balk S Sarah Hill J Juan Miguel Mosquera D David Einstein S Shahneen Sandhu (From the Sandra and Edward Meyer Cancer Center (J.D.W.) and the Department of Medicine (J.D.W., M.A.P.), Weill Cornell Medicine, and Memorial Sloan Kettering Cancer Center (M.A.P.) — both in New York; Istituto Oncologico Veneto, IRCCS, Padua (V.C.-S.), European Institute of Oncology, IRCCS, Milan (P.Q.), Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, IRCCS, Meldola (M.G.), University of Siena and the Center for Immuno-Oncology, University Hospital of Siena, Siena (M.M.), and Istituto Nazionale Tumori IRCCS Fondazione Pascale, Naples (P.A.A.) — all in Italy; Maria Sklodowska-Curie National Institute of Oncology, Warsaw, Poland (P.R.); Texas Oncology–Baylor Charles A. Sammons Cancer Center, Dallas (C.L.C.); University Hospital Essen, the German Cancer Consortium, the National Center for Tumor Diseases–West, the Research Alliance Ruhr, Research Center One Health, and University Duisburg-Essen — all in Essen, Germany (D.S.); the College of Medicine, Swansea University, Swansea (J.W.), Brist...) M Mary-Ellen Taplin (Dana–Farber Cancer Institute, Boston) H Himisha Beltran

Abstract

Abstract Castration-resistant prostate cancer is a heterogeneous disease with variable phenotypes commonly observed in later stages of the disease. These include cases that retain expression of luminal markers and those that lose hormone dependence and acquire neuroendocrine features. While there are distinct transcriptomic and epigenomic differences between castration-resistant adenocarcinoma and neuroendocrine prostate cancer, the extent of overlap and degree of diversity across tumor metastases in individual patients has not been fully characterized. Here we perform combined DNA methylation, RNA-sequencing, H3K27ac, and H3K27me3 profiling across metastatic lesions from patients with CRPC/NEPC. Integrative analyses identify DNA methylation-driven gene links based on location (H3K27ac, H3K27me3, promoters, gene bodies) pointing to mechanisms underlying dysregulation of genes involved in tumor lineage (ASCL1, AR ) and therapeutic targets (PSMA, DLL3, STEAP1, B7-H3). Overall, these data highlight how integration of DNA methylation with RNA-sequencing and histone marks can inform intraindividual epigenetic heterogeneity and identify putative mechanisms driving transcriptional reprogramming in castration-resistant prostate cancer.

Article Details

Volume / Issue Vol. 16, Issue 1
Published July 01, 2025
ISSN 2041-1723
Publisher Nature Portfolio

Journal Info

Nature Communications

Nature Portfolio

ISSN: 2041-1723 Open Access Life Sciences

Authors (23)

K

Kei Mizuno

S

Sheng-Yu Ku

V

Varadha Balaji Venkadakrishnan

M

Martin K. Bakht

M

Michael Sigouros

J

Joanna Chan

A

Anna Trigos

J

Jordan H. Driskill

J

Jyothi Manohar

A

Abigail King

A

Adam G. Presser

M

Min Jin Kim

A

Alok K. Tewari

Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School

H

Henry W. Long

Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute

D

David Quigley

Department of Physics, University of Warwick 2 , Gibbet Hill Road, Coventry CV4 7AL,

T

Toni K. Choueiri

Department of Medical Oncology Dana‐Farber Cancer Institute Boston Massachusetts USA

S

Steven Balk

S

Sarah Hill

J

Juan Miguel Mosquera

D

David Einstein

S

Shahneen Sandhu

From the Sandra and Edward Meyer Cancer Center (J.D.W.) and the Department of Medicine (J.D.W., M.A.P.), Weill Cornell Medicine, and Memorial Sloan Kettering Cancer Center (M.A.P.) — both in New York; Istituto Oncologico Veneto, IRCCS, Padua (V.C.-S.), European Institute of Oncology, IRCCS, Milan (P.Q.), Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, IRCCS, Meldola (M.G.), University of Siena and the Center for Immuno-Oncology, University Hospital of Siena, Siena (M.M.), and Istituto Nazionale Tumori IRCCS Fondazione Pascale, Naples (P.A.A.) — all in Italy; Maria Sklodowska-Curie National Institute of Oncology, Warsaw, Poland (P.R.); Texas Oncology–Baylor Charles A. Sammons Cancer Center, Dallas (C.L.C.); University Hospital Essen, the German Cancer Consortium, the National Center for Tumor Diseases–West, the Research Alliance Ruhr, Research Center One Health, and University Duisburg-Essen — all in Essen, Germany (D.S.); the College of Medicine, Swansea University, Swansea (J.W.), Brist...

M

Mary-Ellen Taplin

Dana–Farber Cancer Institute, Boston

H

Himisha Beltran