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BackgroundCirculating tumor DNA (ctDNA) is a promising tool for diagnosing and predicting cancer prognosis. However, its clinical utility in metastatic renal cell carcinoma (mRCC) remains unclear, particularly in terms of clinical prognosis.MethodsWe enrolled 124 patients with mRCC in the MONSTAR-SCREEN study (UMIN 000036749) between August 2019 and February 2022, a national observational ctDNA-based screening study, and performed ctDNA sequencing before and at the time of resistance to systemic therapy.ResultsctDNA were assessed in 178 samples containing 432 mutations. The most frequently altered genes at baseline were VHL (25.0%), PBRM1 (10.9%), TERT2 (8.7%), BAP1 (8.7%), and MTOR (7.6%). Patients receiving first-line therapy with tumor fraction (TF) ConclusionsOur findings demonstrated that ctDNA profiling is feasible in mRCC and can predict disease progression after treatment.

Original publication

DOI

10.1038/s41416-025-02985-8

Type

Journal article

Journal

British journal of cancer

Publication Date

07/2025

Volume

133

Pages

111 - 120

Addresses

Department of Urology, Osaka University Graduate School of Medicine, Osaka, Japan. taigo.kato@gmail.com.

Keywords

Humans, Carcinoma, Renal Cell, Kidney Neoplasms, Ubiquitin Thiolesterase, Tumor Suppressor Proteins, Prognosis, Mutation, Adult, Aged, Aged, 80 and over, Middle Aged, Japan, Female, Male, Biomarkers, Tumor, Circulating Tumor DNA