What is circulating tumor DNA and how is it used to diagnose and manage cancer?
Circulating tumor DNA (ctDNA) consists of small fragments of genetic material released into the bloodstream by dying cancer cells, offering a non-invasive way to monitor tumor activity.
Overview
Circulating tumor DNA (ctDNA) refers to DNA found in the bloodstream that originates from cancerous cells and tumors. Most DNA is typically contained within a cell’s nucleus. However, as a tumor grows, cells die and are replaced by new ones. During this process, the dead cells break down and release their contents—including DNA—into the bloodstream. These ctDNA fragments are small, usually comprising fewer than 200 nucleotides (building blocks) in length.
The quantity of ctDNA present in an individual varies based on the type of tumor, its location, and the stage of the cancer.
Clinical Applications
The detection and analysis of ctDNA can be beneficial in several clinical scenarios:
- Detecting and diagnosing a tumor: Because tumor DNA contains multiple genetic changes (variants) that differ from an individual's normal DNA, finding these differences aids in tumor detection. This can reduce the need for a tumor biopsy, which may be challenging if the tumor is in a difficult-to-access location, such as the lung or brain.
- Guiding tumor-specific treatment: Analyzing the genome of tumor cells via ctDNA can help doctors identify the most effective treatment. Currently, U.S. Food and Drug Administration approval for using ctDNA testing to personalize cancer treatment is limited.
- Monitoring treatment: A decrease in the quantity of ctDNA in the blood suggests that the tumor is shrinking and the treatment is successful.
- Monitoring remission: A lack of ctDNA in the bloodstream during periods with no symptoms indicates that the cancer has not returned.