The Role of Circulating Tumor DNA and Cell-Free DNA in the Management of Germ Cell Tumors: A Narrative Review

  • Isabella Dolendo
  • Shanice Cox
  • Dhruv Puri
  • Aditya Bagrodia
Keywords: Testicular cancer, germ cell tumors, cell-free DNA, circulating tumor DNA, liquid biopsy


Liquid biopsy has demonstrated success as a diagnostic, prognostic, and therapy response monitoring tool in various
cancers and could represent a rapid and minimally invasive alternative or complementary test for testicular germ cell
tumors (GCTs). This article aims to review the current state of the research into circulating tumor DNA (ctDNA) and
cell-free DNA (cfDNA) in testicular GCTs.
Studies have confirmed the presence of ctDNA and cfDNA can be identified in peripheral blood samples of patients
with testicular GCTs. Further research has attempted to optimize the methods for ctDNA detection in plasma to
improve the sensitivity of these tests; however, a single method with high sensitivity and reliability has yet to be
established. Previous studies have employes different methods for detecting cfDNA, including spectrophotometry,
capillary electrophoresis, quantitative polymerase chain reaction (PCR), reverse transcription-polymerase chain
reaction (RT-PCR), and whole genome sequencing. These studies have various elements of cfDNA examined such as
total cfDNA quantity, methylation patterns, and specific mutations. Additional studies have investigated the efficacy
of cfDNA detection in combination with other tests including miRNA analysis.
The application of cfDNA as a biomarker has been rapidly expanding in several malignancies. However, there is a
relative paucity of research on the clinical utility of cfDNA in testicular cancer, and many questions remain about
the significance and feasibility of this biomarker in GCTs. Cell-free DNA shows promise as a biomarker to enhance
detection and disease monitoring in testicular cancer, but robust studies are needed to develop an optimal and
reproducible method for cfDNA detection in order to determine its clinical application in testicular cancer.

How to Cite
Dolendo, I., Cox, S., Puri, D., & Bagrodia, A. (2023). The Role of Circulating Tumor DNA and Cell-Free DNA in the Management of Germ Cell Tumors: A Narrative Review. Société Internationale d’Urologie Journal, 4(4), 293-300.