Kristien Cool

Currently, we cannot provide a conclusive diagnosis for 3 to 5% of patients who are confronted with cancer. These patients have Cancer of Unknown Primary (CUP), i.e. a metastasized cancer for which the tissue-of-origin cannot be determined using the current diagnostic workflow. Identifying the tissue of origin is important for selecting the most appropriate treatment.

Previous studies have shown that different cancer types have distinct DNA methylation patterns. These patterns can therefore serve as a molecular “fingerprint” to classify tumors and identify their tissue of origin.

In this project, we aim to characterize the DNA methylation patterns of different, known, cancer types and use these data to build a reference atlas. The goal is to compare the methylation patterns of CUP tumors with those in the reference atlas, and, in this way, determine the most likely cancer type and tissue of origin.
Because obtaining tumor tissue through a biopsy is invasive and may not always be possible, we will investigate whether these methylation patterns can instead be determined from blood samples. Blood from patients with cancer contains circulating tumor DNA (ctDNA) released by tumor cells. By analyzing the DNA methylation patterns of this ctDNA, we aim to identify the tissue of origin without the need for an invasive biopsy.
 

• Lab address: 
  - Department of Pathology, PAD-building, entrance 23, Ghent University Hospital, Corneel Heymanslaan 10, 9000 Ghent, Belgium
  - VIB Center for Medical Biotechnology, UGent Department of Biomolecular Medicine, Technologiepark-Zwijnaarde 75 - 9052 Gent, Belgium