Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients

Background: Type II ovarian cancer (OC) is generally diagnosed at an advanced stage, translating into a poor survival rate. Current screening methods for OC have failed to demonstrate a reduction in mortality. The uterine lavage technique has been used to detect tumor-specific <i>TP53</i>...

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Bibliographic Details
Main Authors: Diana Žilovič, Ieva Vaicekauskaitė, Rūta Čiurlienė, Rasa Sabaliauskaitė, Sonata Jarmalaitė
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Cancers
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Online Access:https://www.mdpi.com/2072-6694/15/3/868
Description
Summary:Background: Type II ovarian cancer (OC) is generally diagnosed at an advanced stage, translating into a poor survival rate. Current screening methods for OC have failed to demonstrate a reduction in mortality. The uterine lavage technique has been used to detect tumor-specific <i>TP53</i> mutations from cells presumably shed from high-grade serous ovarian cancer (HGSOC). We aimed to pilot whether the detection of <i>TP53</i> mutation in uterine cavity lavage can be used as a diagnostic method for HGSOC using an expanded gene panel. Methods: In this study 90, uterine lavage and 46 paired biopsy samples were analyzed using next-generation sequencing (NGS) targeting <i>TP53</i> as well as five additional OC-related genes: <i>BRCA1</i>, <i>BRCA2</i>, <i>PI3KCA</i>, <i>PTEN</i>, and <i>KRAS</i>. Results: Uterine lavage was successfully applied to all patients, and 56 mutations were detected overall. <i>TP53</i> mutations were detected in 27% (10/37) of cases of type HGSOC; <i>BRCA1</i> and <i>BRCA2</i> mutations were also frequent in this group (46%; 17/37). Overall concordance between tissue and liquid biopsy samples was 65.2%. Conclusion: Uterine lavage <i>TP53</i> mutations in combination with other biomarkers could be a useful tool for the detection of lowly invasive HGSOC.
ISSN:2072-6694