Development of a Predictive Model for Early Differential Diagnosis of Uterine Leiomyomas and Leiomyosarcomas

The development of an accurate and non-invasive diagnostic method is a priority in areas such as gynecology and oncology, specifically to improve the health of those patients with surgical indication for diagnosis of myometrial tumors: leiomyomas and/or leiomyosarcomas. Recently, Next Generation Sequencing (NGS) technology has been successfully applied in different areas of knowledge, being effective not only for the detection of DNA mutations, but also providing through bioinformatic tools, new insights in the understanding of chromosomal instability. In addition, the detection of circulating tumor DNA (ctDNA) through this type of techniques could revolutionize the non-invasive detection and monitoring of this type of tumors. The proposed study aims to perform the differential molecular analysis of myometrial tumor tissue (uterine leiomyomas / leiomyosarcomas), as well as peripheral blood of a group of patients with surgical indication of hysterectomy, laparoscopic or laparotomic myomectomy by diagnosis of myometrial tumors. Thus, the obtained samples will be processed for the realization of techniques of massive parallel sequencing or NGS that, together with a specialized bioinformatic software, will facilitate the interpretation of the obtained data. Combination of both platforms, sequencing and bioinformatics, will offer a high potential for the discovery of genetic variants and genomic markers. Depending on the results of these analyses, differential diagnosis of leiomyoma and leiomyosarcoma could be determined, in addition to increasing knowledge of myometrial biology and associated pathologies in a clinical and therapeutic context. Moreover, the application of this technology could allow the development of biomarkers and targeted therapies effective in the treatment of uterine leiomyomas and/or leiomyosarcomas.

Sex

Female

Minimum age

18 Years

Maximum age

75 Years

Inclusion Criteria:

* Patients who voluntarily sign the informed consent approved by the research Ethics Committee (EC) after having been duly informed of the nature of the study, before carrying out any test, knowing the potential risks, benefits and discomforts arising from their participation. Participants should be informed that they may leave the study at any time, without this implying any consequences for their subsequent medical care.
* Body Mass Index (BMI) = 18-35 kg/m2
* Age = 18-75 years
* Surgical indication of hysterectomy, laparoscopic or laparotomic myomectomy by imaging diagnosis (ultrasound, resonance, Computerized Tomography Scan ...) of tumor mass in the myometrium, whether primary or recurrent.

Exclusion Criteria:

* Patients who have participated in another biomedical study or who have received an experimental treatment during the last 30 days, unless approved by the sponsor.
* Patients who have received chemotherapy or radiotherapy 6 months before diagnosis (in case of recurrence).
* Pregnant patients before or during the development of the study.
* Existence of serious or uncontrolled bacterial, fungal or viral infections that, in the opinion of the principal investigator, may interfere with the patient's participation in the study or in the evaluation of the study results.
* Any illness or medical condition that is unstable or could endanger the patient's safety and compliance in the study.
* Psychological, family, sociological or geographical situations that do not allow compliance with the protocol or the signing of informed consent.