Cancer-associated gene analysis of cervical cytology samples and liquid-based cytology significantly improve endometrial cancer diagnosis sensitivity

Abstract

To the best of our knowledge, there are no useful screening methods for early detection of endometrial cancer in asymptomatic individuals. The present study evaluated the usefulness of genetic analysis of liquid-based cytology (LBC) specimens by assessing whether pathological genetic mutations detected in cancer tissue sections were detected in LBC specimens from the cervix and uterus. The primary endpoint was genetic analysis of cervical cytology specimens and LBC for the detection of endometrial cancer. Endometrial thickening (>11 mm) assessed using transvaginal ultrasonography was present in 60% of cases and adenocarcinoma assessed using cervical cytology was present in 50% of cases. In 70% of cases, pathogenic mutations detected in cancer tissue sections were also detected in cervical and/or endometrial LBC specimens. The pathogenic variants identified were PTEN in four cases, tumor protein P53, PI3K catalytic subunit α and fibroblast growth factor receptor 2 in two cases each and APC regulator of WNT signaling pathway, KRAS and catenin β;1 in one case each. In the present study, a combination of endometrial thickening assessed by transvaginal ultrasonography, cervical cytology and genetic analysis resulted in a high sensitivity of 90% for detection of endometrial cancer. The combination of these tests is more expensive than conventional methods, but delayed detection of uterine cancer requires multidisciplinary treatment, which increases healthcare costs. Increased spending on early detection of uterine cancer is better economically and may improve patient quality of life.