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Updated: Aug 4, 2026
Cell-Free DNA Integrity Analysis in Urine Samples
Published on: January 5, 2017
Hypermethylated SHOX2 in circulating cell-free DNA post renal cell carcinoma surgery as TNM-independent biomarker for
Thomas Büttner1, Romina Zarbl2, Philipp Krausewitz1
1Department of Urology and Pediatric Urology, University Hospital Bonn Bonn, Germany.
Hypermethylated SHOX2 (mSHOX2) in cell-free DNA effectively identifies high-risk renal cell carcinoma (RCC) patients post-surgery. This biomarker aids in detecting minimal residual disease and guiding adjuvant therapy decisions for improved recurrence risk stratification.
Area of Science:
- Oncology
- Molecular Diagnostics
- Biomarker Discovery
Background:
- Adjuvant immune checkpoint inhibitor trials in renal cell carcinoma (RCC) require enhanced recurrence risk stratification.
- Limitations exist in using circulating tumor DNA (ctDNA) for RCC risk assessment.
- Hypermethylated SHOX2 (mSHOX2) in cell-free DNA is investigated as a potential surrogate marker.
Purpose of the Study:
- To explore the utility of mSHOX2 in circulating cell-free DNA for identifying high-risk RCC patients post-surgery.
- To evaluate mSHOX2 as a prognostic biomarker for recurrence and survival outcomes in RCC.
Main Methods:
- Liquid biopsies were collected from 45 RCC patients post-surgery.
- Real-time PCR analyzed SHOX2 methylation in circulating cell-free DNA.
- Survival analyses (MFS, CSS, OS) were performed using Cox regression and Log-rank tests.
Main Results:
- 17 patients were mSHOX2 positive, correlating with poorer overall survival (OS) and cancer-specific survival (CSS).
- mSHOX2 positivity indicated a nearly 6-fold increased recurrence risk (HR 5.89).
- Multivariable analysis confirmed mSHOX2 as an independent predictor of recurrence, irrespective of TNM staging.
Conclusions:
- mSHOX2 in cell-free DNA is a viable biomarker for identifying high-risk RCC patients post-surgery.
- Detection of mSHOX2 suggests the presence of minimal residual disease.
- This easily implementable biomarker can inform adjuvant therapy decisions in RCC management.
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