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Published on: August 4, 2021
Molecular alterations in endometrial archived liquid-based cytology
Alessia Di Lorito1, Sandra Rosini, Eleonora Falò
1Department of Oncology, Cytodiagnostic Unit, Obstetrics and Gynecological Clinic, G. d'Annunzio University, Chieti-Pescara, Italy. ale_dilori@libero.it
Diagnostic Cytopathology
|July 19, 2012
Summary
Liquid-based cytology (LBC) shows promise for detecting endometrial cancer. PTEN mutations were identified in FFPE samples, with some concordance in LBC, paving the way for early cancer detection.
Area of Science:
- Gynecological oncology
- Molecular diagnostics
- Cancer research
Background:
- Endometrial cancer is a prevalent gynecological malignancy with increasing incidence.
- Liquid-based cytology (LBC) and endoflower dispositive enable endometrial cell examination and molecular analysis.
- Understanding molecular alterations in endometrioid endometrial cancer is crucial.
Purpose of the Study:
- To assess the feasibility of detecting molecular alterations (PTEN, PI3K mutations) in endometrial cancer using LBC samples.
- To evaluate the concordance of molecular findings between LBC and formalin-fixed paraffin-embedded (FFPE) blocks.
- To explore the potential of LBC for early detection and screening of endometrial cancer.
Main Methods:
- Collected 72 endometrial LBC samples and corresponding FFPE blocks (2004-2010).
- Isolated DNA from LBC and FFPE samples; assessed quality and quantity.
- Analyzed PTEN exon 5 and PI3K exon 20 mutations using Sanger sequencing.
Main Results:
- Successfully isolated high-quality DNA from 67/72 FFPE cases.
- Identified PTEN mutations in exon 5 in two FFPE samples; no PI3K mutations detected.
- Demonstrated concordance between LBC and FFPE for wild-type and one mutated PTEN case; low DNA yield limited confirmation in the second mutated case.
Conclusions:
- Molecular analysis of endometrial cancer is feasible using LBC, showing concordance with FFPE samples.
- LBC holds potential for detecting precursor lesions and for screening high-risk women.
- This approach may usher in a new era for endometrial cancer diagnosis and early detection.

