Preoperative assessment of malignancy risk for gynecological tumors is needed to prevent dissemination of cancer after surgery. Our group has recently identified novel differential genetic targets that may discriminate myometrial tumors at tissue level. Further approaches are proposed to evaluate tumor heterogeneity at single-cell resolution and tumor-liquid biopsy for non- invasive preoperative diagnosis and long-term therapeutic treatments.
Preoperative assessment of malignancy risk for uterine leiomyomas and leiomyosarcomas is needed to prevent accidental dissemination of cancer after morcellation. Our group has previously identified novel differential genetic targets that may discriminate leiomyomas and leiomyosarcomas at tissue level. With this research line, our main goal is to develop of a predictive model based on tumor liquid biopsy as a first step toward preoperative diagnosis and long-term therapeutic treatment for these tumours in the female reproductive tract.
During the last decades, the scientific community has been trying to overcome the deficiencies of the CA125 biomarker for the early diagnosis of ovarian cancer (OC), specifically for High-grade Serous Carcinoma (HGSC), which represents 75% of OC, by combining it with other markers (such as HE4) and with available imaging techniques, or monitoring its behavior over time; all ultimately without any apparent achievement. Based on these premises we aim to develop of a predictive model for non-invasive, early and accurate diagnosis of high-grade serous carcinoma (HGSC) addressed to patients with suspicious of ovarian cancer. At the end, success will arise, if possible, from the identification of biomarkers in the earliest stages of OC, where treatment can have a lasting impact on the survival of these patients.
Despite the genomic / transcriptomic analysis carried out by our research group have provided insights into the role of copy number and gene expression variation in disease, they have been based on the analysis of the entire tumor, which implies a technical limitation due to intratumoral heterogeneity (Mas et al., 2019). Based on these premises, we aim to elucidate the mechanism of myometrial tumorigenesis by identifying specific cell types and states of the human myometrium and uterine fibroids. Consequently, the integration of its differential cellular / molecular characteristics could offer a high potential for the discovery of biomarkers that would allow to find new therapeutic targets for the individualized treatment of affected patients.