Abstract
Recent advances in liquid biopsy technologies have transformed our ability to noninvasively monitor molecular alterations in patients, paving the way for truly personalized medicine.
We have developed a pioneering approach for the detection of fusion genes in circulating cell-free nucleic acids, providing a sensitive and specific tool for early cancer diagnosis and disease monitoring. By integrating deep sequencing, bioinformatics pipelines, and machine learning–based fusion discovery, this method enables the identification of tumour-derived fusion transcripts from a simple blood sample—without the need for invasive tissue biopsies.
This approach offers unprecedented potential for real-time tracking of tumour evolution, treatment response, and minimal residual disease, allowing clinicians to tailor therapies according to each patient’s molecular profile. Beyond oncology, fusion gene detection in liquid biopsy holds promise for a wide range of disorders involving genomic rearrangements, setting a new standard for precision diagnostics and personalized therapeutic strategies.
Recent results in glioblastoma (2022): We found that in patients with glioblastoma, gene– gene fusions such as KDR–PDGFRA, NCDN–PDGFRA, BCR–ABL1, COL1A1–PDGFB, NIN–
PDGFRB, FGFR1–BCR, and ROS1 fusions were detected in cfDNA with substantial frequency; these fusions corresponded to known druggable targets. These findings demonstrate that fusion detection via liquid biopsy in glioblastoma can reveal druggable alterations and track tumour evolution (1).
Recent results in oral cavity cancers (2025): In Oral Squamous Cell Carcinoma (OSCC), we identified a novel fusion gene TRMO-TRNT1 in cfDNA from high-grade tumours, alongside copy number variations and other gene alterations, with the concentration of cfDNA correlating with tumour stage, malignancy, and patient survival (2).
This combined evidence underscores the promise of fusion gene detection via liquid biopsy for real-time molecular monitoring, precision diagnostics, and early therapeutic intervention—especially in cancers (such as glioblastoma and OSCC), where tumour tissue is difficult to access or heterogeneously distributed.
- Palande, , Siegal, T., Detroja, R., Gorohovski, A., Glass, R., Flueh, C., Kanner, A.A., Laviv, Y., Har-Nof, S., Levy-Barda, A. et al. (2022) Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis. Mol Oncol, 16, 2098-2114.
- Bhattacharya, M., Yaniv, D., D’Souza, D.P., Yosefof, E., Tzelnick, S., Detroja, R., Wax, T., Levy-Barda, A., Baum, G., Mizrachi, A. et al. (2025) Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non- Invasive Approach for Detecting Structural Variants, Fusions, and Oncoviruses. Cancers (Basel), 17.
Biography
Dr. Milana Frenkel-Morgenstern is a Senior Lecturer at the Scojen Institute of Synthetic Biology, Reichman University, specializing in genomics, cell cycle regulation, evolutionary biology, chimeric proteins, and gene-gene fusions. Her research integrates computational and experimental approaches, utilizing cutting-edge sequencing technologies and AI-driven big data analysis to uncover novel biological insights.