The Potential of Liquid Biopsy in Detection of Endometrial Cancer Biomarkers: A Pilot Study

• Published in: International journal of molecular sciences Vol. 24; no. 9; p. 7811
• Main Authors: Kodada, Dominik, Hyblova, Michaela, Krumpolec, Patrik, Janostiakova, Nikola, Barath, Peter, Grendar, Marian, Blandova, Gabriela, Petrovic, Oliver, Janega, Pavol, Repiska, Vanda, Minarik, Gabriel
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 25.04.2023; MDPI
• Subjects: Biomarkers; Biomarkers, Tumor - genetics; Biopsy; Blood circulation; Blood plasma; Cancer; Care and treatment; Change detection; Circulating Tumor DNA - genetics; Classification; ctDNA; Deoxyribonucleic acid; Diagnosis; Diagnostic systems; DNA; DNA methylation; DNMT3A mutations; Endometrial cancer; Endometrial Neoplasms - diagnosis; Endometrial Neoplasms - genetics; Endometrium; Female; Genes; Hematopoiesis; Hemopoiesis; Histology; Humans; liquid biopsy; Liquid Biopsy - methods; Lymphatic system; Medical prognosis; Metabolic syndrome; Methyltransferases; Mutation; Oncology, Experimental; Patients; Peripheral blood; Pilot Projects; Prognosis; Proteins; Reproducibility of Results; Tumors; Ultrasonic imaging; Uterus; Womens health; Slovakia; endometrial cancer; DNMT3A mutations; ctDNA; liquid biopsy
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms24097811

Endometrial cancer belongs to the most common gynecologic cancer types globally, with increasing incidence. There are numerous ways of classifying different cases. The most recent decade has brought advances in molecular classification, which show more accurate prognostic factors and the possibility of personalised adjuvant treatment. In addition, diagnostic approaches lag behind these advances, with methods causing patients discomfort while lacking the reproducibility of tissue sampling for biopsy. Minimally invasive liquid biopsies could therefore represent an alternative screening and diagnostic approach in patients with endometrial cancer. The method could potentially detect molecular changes in this cancer type and identify patients at early stages. In this pilot study, we tested such a detection method based on circulating tumour DNA isolated from the peripheral blood plasma of 21 Slovak endometrial cancer patients. We successfully detected oncomutations in the circulating DNA of every single patient, although the prognostic value of the detected mutations failed to offer certainty. Furthermore, we detected changes associated with clonal hematopoiesis, including mutations, which were present in the majority of circulating tumour DNA samples.