Towards a diagnostic test for cancers of unknown origin
Cancer of Unknown Primary (CUP) affects 3–5% of cancer patients in Belgium. In these patients, metastases are found, but the original tumor site is unclear/unknown. Even extensive pathological analysis often fails to determine the tumor’s origin, complicating treatment decisions and prognostic evaluations. Consequently, CUP patients face low survival rates—only 15% survive beyond one year post-diagnosis. Additionally, the lack of a clear diagnosis places a significant psychological burden on patients and their families.
Scientists from Ghent and Antwerp have independently developed a promising new test to better diagnose cancers of unknown origin. Both research groups utilized a DNA methylation test, which detects chemical markers on DNA, to determine the source of tumors. The team of CRIG group leader and chairperson Prof. Katleen De Preter (VIB-UGent Center for Medical Biotechnology), developed a blood test, while simultaneously, the team of Prof. Guy Van Camp (University of Antwerp) created a tissue-based test, each with its own advantages.
Proof-of-concept studies on patient samples from Ghent University Hospital showed the methods require minimal DNA, are cost-effective, and work across various sample types, with over 75% of cases successfully identifying the tumor origin using the blood test.
The Ghent and Antwerp teams will now combine their expertise, with support from Kom op tegen Kanker, to create a comprehensive test applicable to both blood and tissue samples.
You can find the links to the original research articles here:
-A Fast, Affordable, and Minimally Invasive Diagnostic Test for Cancer of Unknown Primary Using DNA Methylation Profiling. De Wilde et al. Lab Invest. 2024
-IMPRESS: Improved Methylation Profiling Using Restriction Enzymes and smMIP Sequencing, Combined with a New Biomarker Panel, Creating a Multi-Cancer Detection Assay. Vandenhoeck et al. 0224; British Journal of Cancer.
(based on the news item on the VIB website (in Dutch))