Description
Our research group has recently identified novel differential genetic targets that may discriminate gynecological tumors at the tissue level; however, developing accurate and non-invasive diagnostic methods is a priority in areas such as gynecology/oncology.
In this sense, we are investigating novel approaches to shift the diagnostic and therapeutic focus toward a targeted and early preoperative assessment of malignancy risk. Research based on single-cell sequencing will allow us to infer tumor heterogeneity and change the clinical interventions from the total cell mass of the tumor to a population of small cells.
Our research based on liquid biopsy could also allow the development of predictive models for differential diagnosis, thus avoiding the risk of hidden diffusion of malignant gynecological tumors.
Description
Our research group has recently identified novel differential genetic targets that may discriminate gynecological tumors at the tissue level; however, developing accurate and non-invasive diagnostic methods is a priority in areas such as gynecology/oncology.
In this sense, we are investigating novel approaches to shift the diagnostic and therapeutic focus toward a targeted and early preoperative assessment of malignancy risk. Research based on single-cell sequencing will allow us to infer tumor heterogeneity and change the clinical interventions from the total cell mass of the tumor to a population of small cells.
Our research based on liquid biopsy could also allow the development of predictive models for differential diagnosis, thus avoiding the risk of hidden diffusion of malignant gynecological tumors.
Team members
Dr. Aymara Mas is Senior Principal Investigator at the Carlos Simon Foundation and Miguel Servet Researcher (ISCIII) at the INCLIVA Health Research Institute, Valencia (Spain)
Her research focuses on understanding the factors contributing to the pathophysiology of benign and malignant gynecologic tumors, including smooth muscle tumors and uterine and ovarian cancer.
Dr. Mas performed an international post-doctoral fellowship for 2 years at Augusta University (Georgia, USA), primarily studying uterine disorders, completing her Ph.D. training at La Fe Health Research Institute, Valencia (Spain), with a Sara Borrel Grant (ISCIII).
Over the past 10 years, she has made significant contributions including the functional proof of concept for the existence of somatic stem cells (SSCs) in the human myometrium and uterine leiomyomas (PMID: 24890270)Â based on side population methods (PMID: 22633281) and specific biomarkers (PMID: 25989979; PMID: 28395335). She also collaborated with many groups to study the role of steroid hormone receptors (PMID: 27739139), signaling pathways (PMID: 30075150), and genetic (PMID: 25542836) and epigenetic alterations (PMID: 25922306) in the pathogenesis and growth of uterine leiomyomas, looking further into new approaches to improve the efficacy of gene therapy against these benign tumors (PMID: 27020169). She has also revealed, through integrative genomic and transcriptomic profiling, the differential molecular signature of uterine leiomyoma versus leiomyosarcoma tumors (PMID: 31121144; PMID: 35216305), giving rise to 2 patent applications.
Her commitment to research excellence has been demonstrated by an established record of 9 research projects (5 as principal investigator) and 30 basic and translational publications in peer-reviewed journals from an area of high relevance, such as female reproductive health, specifically in uterine leiomyomas. She has participated in national and international grants and has been internationally awarded by the Society of Reproductive Investigation (SRI) and the American Society of Reproductive Medicine (ASRM). She also guides Medicine Degree students in their final projects and Ph.D. students.
Nowadays, her team uses high-throughput sequencing technologies to identify molecular biomarkers associated with tumor growth and progression and develop predictive models that allow non-invasive therapeutic and preventive strategies.
ResearcherID: E-4409-2018
Carolina Lliberos, Ph.D.
Postdoctoral Researcher
Paula Punzon
Predoctoral Researcher
Sandra Boldu
Predoctoral Researcher
Esther Lara
Laboratory Technician
Main Publications
Effect of aging on the human myometrium at single-cell resolution
Punzon-Jimenez P., Machado-Lopez A., Perez-Moraga R, Llera-Oyola J, Grases D, Galvez-Viedma M, Sibai M, Satorres-Perez E, Lopez-Agullo S, Badenes R, Ferrer-Gomez C, Porta-Pardo E, Roson B, Simon C, Mas A. Nat Commun. 2024 Jan 31;15(1):945.
https://doi.org/10.1038/s41467-024-45143-z. PMID: 38296945.
Molecular Management of High-Grade Serous Ovarian Carcinoma
Punzón-Jiménez P, Lago V, Domingo S, Simón C, Mas A.
Int J Mol Sci. 2022 Nov 9;23(22):13777.
https://doi.org/10.3390/ijms232213777. PMID: 36430255; PMCID: PMC9692799.
Integrative Genomic and Transcriptomic Profiling Reveals a Differential Molecular Signature in Uterine Leiomyoma versus Leiomyosarcoma
Machado-Lopez A, Alonso R, Lago V, Jimenez-Almazan J, Garcia M, Monleon J, Lopez S, Barcelo F, Torroba A, Ortiz S, Domingo S, Simon C, Mas A.
Int J Mol Sci. 2022 Feb 16;23(4):2190.
https://doi.org/10.3390/ijms23042190. PMID: 35216305; PMCID: PMC8877247.
Molecular and Cellular Insights into the Development of Uterine Fibroids
Machado-Lopez A, Simon C, Mas A.
Int J Mol Sci. 2021 Aug 6;22(16):8483.
https://doi.org/10.3390/ijms22168483. PMID: 34445194
The differential diagnoses of uterine leiomyomas and leiomyosarcomas using DNA and RNA sequencing
Mas A, Alonso R, Garrido-Gomez T, Escorcia P, Montero B, Jimenez-Almazan J, Martin J, Pellicer N, Monleon J, Simon C.
Am J Obstet Gynecol. 2019 Oct;221(4):320.e1-320.e23.
https://doi.org/10.1016/j.ajog.2019.05.018. PMID: 31121144.