2. UroToday Home
  3. Recent Abstracts
  4. Urologic Oncology
  5. Upper Tract Tumors

Patient-Specific Targeted Analysis of Circulating Tumour DNA in Plasma Is Feasible and May Be a Potential Biomarker in Upper Tract Urothelial Cancer - Beyond the Abstract

Circulating tumor DNA (ctDNA), which carries genetic alterations present in the tumor, is released into body fluids such as plasma when tumor cells die by apoptosis or necrosis. Thus, analyses of ctDNA offer a minimally invasive method for detection of tumor-specific mutations which could potentially be utilized as a clinical biomarker for disease progression and monitoring purposes for cancer patients.

In our current pilot study, we investigated whether known tumor-specific mutations could be measured in ctDNA from plasma in nine patients with upper urinary tract urothelial carcinoma.

Tumor-specific mutations in ctDNA from plasma were detected in five of the nine patients during their clinical course. These patients either progressed in their disease later or had large tumors when plasma was taken. The remaining patients where ctDNA in plasma could not be detected had small tumors and all were progression-free during follow-up.

Although the sample size of our study is limited, our preliminary results are promising and show that the method used for detecting ctDNA in plasma is feasible. However, larger studies are needed to determine the potential role of ctDNA testing as a clinical biomarker.

Written by: Ninni Mu,1-3 Cecilia Jylhä,1,3 Tomas Axelsson,4 Filip Sydén,5 Marianne Brehmer,5,6 Emma Tham7,8

  1. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  2. Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
  3. Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  4. Division of Urology, Danderyd Hospital, Stockholm, Sweden.
  5. Department of Urology, Stockholm South General Hospital, Stockholm, Sweden.
  6. Department of Clinical Sciences, Karolinska Institutet, Stockholm, Sweden.
  7. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  8. Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Read the Abstract