Accuracy of the Preoperative Molecular Diagnosis of Uterine Tumors by Liquid Biopsy

Summary

The development of precise and non-invasive diagnostic methods is a priority in areas such as gynaecology and oncology, and above all in improving the health of those patients with a surgical indication for hysterectomy, laparoscopic or laparotomic myomectomy for diagnosis of uterine tumours. Indeed, in the absence of an accurate and objective preoperative diagnostic option, all patients with suspected benign tumours should be considered at risk for occult leiomyosarcoma.

Recently, the concept of "liquid biopsy" has emerged as a minimally invasive alternative to surgical biopsies for solid tumours with highly recurrent mutations, avoiding the sampling of tumour tissue before and after treatment. Generally, the liquid biopsy is obtained by taking a sample of blood or other body fluids, to provide tumour-specific information.

Based on these premises, a prospective, observational and multicentre case-control study is proposed, the objective of which is to evaluate the diagnostic precision (sensitivity, specificity, negative predictive value and positive predictive value) in the detection of molecular differences by liquid biopsy in patients with suspected myometrial tumour (leiomyoma / leiomyosarcoma).

Depending on the results of these analysis, the application of this technology could allow the differential diagnosis of the tumour in a non-invasive and objective way, as well as the development of biomarkers and effective targeted therapies in the treatment of leiomyosarcomas. Consequently, we would also be increasing our knowledge of tumour biology and associated pathologies in a clinical and therapeutic context.

Conditions

• Leiomyoma, Uterine
• Leiomyosarcoma Uterus

Interventions

PROCEDURE

Collection of Leiomyoma samples

Peripheral blood will be collected from the candidate patient with suspected myometrial tumours, prior to the surgery already planned form medical indication in accordance with routine clinical practice. A sample of tumour tissue will be collected during surgery and sent to pathologists for diagnosis in accordance with the usual clinical practice. The tumour paraffin block/sections will be requested for the study only after the diagnosis.

PROCEDURE

Collection of Leiomyosarcoma samples

Peripheral blood will be collected from the candidate patient with suspected myometrial tumours, prior to the surgery already planned form medical indication in accordance with routine clinical practice. A sample of tumour tissue will be collected during surgery and sent to pathologists for diagnosis in accordance with the usual clinical practice. The tumour paraffin block/sections will be requested for the study only after the diagnosis.

PROCEDURE

Collection of control samples

Peripheral blood will be collected during an analysis or gynaecological consultation already planned by routine clinical practice. The sample will be sent to Igenomix for molecular analysis.

Sponsors & Collaborators

• Igenomix

  lead INDUSTRY

Principal Investigators

• Carlos Simón, MD, PhD · Igenomix

• Aymara Mas, PhD · Igenomix Foundation

Eligibility

Min Age

18 Years

Max Age

80 Years

Sex

FEMALE

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-09-30

Primary Completion

2023-05-31

Completion

2023-05-31

Countries

• Spain

Study Locations