Journal Article (Review Article)

DKFZ-2026-00597

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Clinical validity of circulating tumor DNA as a diagnostic biomarker for prostate cancer: a systematic review.

de Vrieze, M. (First author)DKFZ* ; Zhang, N.DKFZ* ; Seibold, P.DKFZ* ; Gerhäuser, C.DKFZ* ; Albers, P. ; Krilaviciute, A. (Last author)DKFZ*

2026
AACR Philadelphia, Pa.

Abstract: Current diagnostic pathways for prostate cancer (PCa) have unsatisfactory specificity and rely heavily on magnetic resonance imaging, underscoring the need for novel diagnostic biomarkers. This article provides a systematic review of the evidence on using blood-derived cell-free DNA (cfDNA)-based biomarkers for PCa diagnosis. A structured review was conducted according to the PRISMA guidelines. Original peer-reviewed research articles published before August 2025 were identified from PubMed/Medline, Web of Science, and Embase using keyword combinations concerning PCa, cfDNA, and diagnostic test performance. Studies that compared blood-derived cfDNA-based diagnostic biomarkers in men with and without PCa were included. Fifty-nine articles were identified and analyzed. Most articles reported qualitative cfDNA assays relying on PCR (N=37) or next generation sequencing (NGS; N=10). Diagnostic test performance improved for aggressive and metastatic PCa. However, evidence regarding clinical validity in localized disease is scarce, particularly for NGS-based methods (3 studies). GSTP1 promoter hypermethylation, the most frequently investigated biomarker, showed an average sensitivity and specificity of 35.1% and 91.2%, respectively, for the detection of localized PCa. Overall, circulating tumor DNA represents a promising diagnostic biomarker for PCa early detection. High-quality discovery and validation research in the intended-use setting are essential to fully understand clinical validity and utility.

Note: #EA:C130#LA:C130# / epub

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Contributing Institute(s):

1. Personalisierte Früherkennung des Prostatakarzinoms (C130)
2. Epigenomik (B370)

Research Program(s):

1. 313 - Krebsrisikofaktoren und Prävention (POF4-313) (POF4-313)

Appears in the scientific report 2026

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Essential Science Indicators ; IF < 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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