A reliable transcriptomic risk-score applicable to formalin-fixed paraffin-embedded biopsies improves outcome prediction in localized prostate cancer.

Molecular diagnostic testing Molecular pathology Personalized medicine Prognostic biomarker Prostate cancer Transcriptome

Journal

Molecular medicine (Cambridge, Mass.)
ISSN: 1528-3658
Titre abrégé: Mol Med
Pays: England
ID NLM: 9501023

Informations de publication

Date de publication:
01 Feb 2024
Historique:
received: 11 07 2023
accepted: 22 01 2024
medline: 2 2 2024
pubmed: 2 2 2024
entrez: 2 2 2024
Statut: epublish

Résumé

Clinical manifestation of prostate cancer (PCa) is highly variable. Aggressive tumors require radical treatment while clinically non-significant ones may be suitable for active surveillance. We previously developed the prognostic ProstaTrend RNA signature based on transcriptome-wide microarray and RNA-sequencing (RNA-Seq) analyses, primarily of prostatectomy specimens. An RNA-Seq study of formalin-fixed paraffin-embedded (FFPE) tumor biopsies has now allowed us to use this test as a basis for the development of a novel test that is applicable to FFPE biopsies as a tool for early routine PCa diagnostics. All patients of the FFPE biopsy cohort were treated by radical prostatectomy and median follow-up for biochemical recurrence (BCR) was 9 years. Based on the transcriptome data of 176 FFPE biopsies, we filtered ProstaTrend for genes susceptible to FFPE-associated degradation via regression analysis. ProstaTrend was additionally restricted to genes with concordant prognostic effects in the RNA-Seq TCGA prostate adenocarcinoma (PRAD) cohort to ensure robust and broad applicability. The prognostic relevance of the refined Transcriptomic Risk Score (TRS) was analyzed by Kaplan-Meier curves and Cox-regression models in our FFPE-biopsy cohort and 9 other public datasets from PCa patients with BCR as primary endpoint. In addition, we developed a prostate single-cell atlas of 41 PCa patients from 5 publicly available studies to analyze gene expression of ProstaTrend genes in different cell compartments. Validation of the TRS using the original ProstaTrend signature in the cohort of FFPE biopsies revealed a relevant impact of FFPE-associated degradation on gene expression and consequently no significant association with prognosis (Cox-regression, p-value > 0.05) in FFPE tissue. However, the TRS based on the new version of the ProstaTrend-ffpe signature, which included 204 genes (of originally 1396 genes), was significantly associated with BCR in the FFPE biopsy cohort (Cox-regression p-value < 0.001) and retained prognostic relevance when adjusted for Gleason Grade Groups. We confirmed a significant association with BCR in 9 independent cohorts including 1109 patients. Comparison of the prognostic performance of the TRS with 17 other prognostically relevant PCa panels revealed that ProstaTrend-ffpe was among the best-ranked panels. We generated a PCa cell atlas to associate ProstaTrend genes with cell lineages or cell types. Tumor-specific luminal cells have a significantly higher TRS than normal luminal cells in all analyzed datasets. In addition, TRS of epithelial and luminal cells was correlated with increased Gleason score in 3 studies. We developed a prognostic gene-expression signature for PCa that can be applied to FFPE biopsies and may be suitable to support clinical decision-making.

Sections du résumé

BACKGROUND BACKGROUND
Clinical manifestation of prostate cancer (PCa) is highly variable. Aggressive tumors require radical treatment while clinically non-significant ones may be suitable for active surveillance. We previously developed the prognostic ProstaTrend RNA signature based on transcriptome-wide microarray and RNA-sequencing (RNA-Seq) analyses, primarily of prostatectomy specimens. An RNA-Seq study of formalin-fixed paraffin-embedded (FFPE) tumor biopsies has now allowed us to use this test as a basis for the development of a novel test that is applicable to FFPE biopsies as a tool for early routine PCa diagnostics.
METHODS METHODS
All patients of the FFPE biopsy cohort were treated by radical prostatectomy and median follow-up for biochemical recurrence (BCR) was 9 years. Based on the transcriptome data of 176 FFPE biopsies, we filtered ProstaTrend for genes susceptible to FFPE-associated degradation via regression analysis. ProstaTrend was additionally restricted to genes with concordant prognostic effects in the RNA-Seq TCGA prostate adenocarcinoma (PRAD) cohort to ensure robust and broad applicability. The prognostic relevance of the refined Transcriptomic Risk Score (TRS) was analyzed by Kaplan-Meier curves and Cox-regression models in our FFPE-biopsy cohort and 9 other public datasets from PCa patients with BCR as primary endpoint. In addition, we developed a prostate single-cell atlas of 41 PCa patients from 5 publicly available studies to analyze gene expression of ProstaTrend genes in different cell compartments.
RESULTS RESULTS
Validation of the TRS using the original ProstaTrend signature in the cohort of FFPE biopsies revealed a relevant impact of FFPE-associated degradation on gene expression and consequently no significant association with prognosis (Cox-regression, p-value > 0.05) in FFPE tissue. However, the TRS based on the new version of the ProstaTrend-ffpe signature, which included 204 genes (of originally 1396 genes), was significantly associated with BCR in the FFPE biopsy cohort (Cox-regression p-value < 0.001) and retained prognostic relevance when adjusted for Gleason Grade Groups. We confirmed a significant association with BCR in 9 independent cohorts including 1109 patients. Comparison of the prognostic performance of the TRS with 17 other prognostically relevant PCa panels revealed that ProstaTrend-ffpe was among the best-ranked panels. We generated a PCa cell atlas to associate ProstaTrend genes with cell lineages or cell types. Tumor-specific luminal cells have a significantly higher TRS than normal luminal cells in all analyzed datasets. In addition, TRS of epithelial and luminal cells was correlated with increased Gleason score in 3 studies.
CONCLUSIONS CONCLUSIONS
We developed a prognostic gene-expression signature for PCa that can be applied to FFPE biopsies and may be suitable to support clinical decision-making.

Identifiants

pubmed: 38302875
doi: 10.1186/s10020-024-00789-9
pii: 10.1186/s10020-024-00789-9
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

19

Informations de copyright

© 2024. The Author(s).

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Auteurs

Michael Rade (M)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Markus Kreuz (M)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Angelika Borkowetz (A)

Department of Urology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Ulrich Sommer (U)

Institute of Pathology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Conny Blumert (C)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Susanne Füssel (S)

Department of Urology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Catharina Bertram (C)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Dennis Löffler (D)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Dominik J Otto (DJ)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
Basic Science Division, Computational Biology Program, Fred Hutchinson Cancer Center, Seattle, WA, USA.

Livia A Wöller (LA)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Carolin Schimmelpfennig (C)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Ulrike Köhl (U)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
Institute of Clinical Immunology, University of Leipzig, Leipzig, Germany.

Ann-Cathrin Gottschling (AC)

Department of Urology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Pia Hönscheid (P)

Institute of Pathology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Gustavo B Baretton (GB)

Institute of Pathology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Manfred Wirth (M)

Department of Urology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Christian Thomas (C)

Department of Urology, Faculty of Medicine, University Hospital, Technische Universität Dresden, Dresden, Germany.

Friedemann Horn (F)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.

Kristin Reiche (K)

Department of Diagnostics, Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany. kristin.reiche@izi.fraunhofer.de.
Institute of Clinical Immunology, University of Leipzig, Leipzig, Germany. kristin.reiche@izi.fraunhofer.de.
Center for Scalable Data Analytics and Artificial Intelligence (ScaDS.AI), University of Leipzig, 04105, Leipzig, Germany. kristin.reiche@izi.fraunhofer.de.

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