Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
. 2018 Dec;109(12):4025-4032.
doi: 10.1111/cas.13819. Epub 2018 Oct 26.

Efficacy of liquid-based genetic diagnosis of endometrial cancer

Motoki Matsuura  1 , Kiyoshi Yamaguchi  2 , Masato Tamate  1 , Seiro Satohisa  1 , Mizue Teramoto  1 , Masahiro Iwasaki  1 , Shintaro Sugita  3 , Tadashi Hasegawa  3 , Rika Koubo  2 , Kiyoko Takane  2 , Tsuneo Ikenoue  2 , Yoichi Furukawa  2 , Tsuyoshi Saito  1
Affiliations
Comparative Study

Efficacy of liquid-based genetic diagnosis of endometrial cancer

Motoki Matsuura et al. Cancer Sci. 2018 Dec.

Abstract

Although liquid-based cytology (LBC) has increased the sensitivity of cytological diagnosis of endometrial cancer (EC) compared with conventional smear cytology, the sensitivity of LBC for the detection of EC is between 70% and 96% and remains unsatisfactory. In the present study, we compared the efficacy of LBC with liquid-based genetic diagnosis (LBGDx) by amplicon sequencing of five genes including PTEN, PIK3CA, CTNNB1, KRAS, and TP53 in 48 LBC subjects who underwent endometrial screening. Consequently, LBC classified 15 samples as "positive or suspicious for malignancy" and the 15 were later confirmed as EC. However, LBC failed to identify five cases who were diagnosed as EC by additional transvaginal ultrasound and endometrial curettage, indicating that the sensitivity of cytology alone was 75% (15/20). LBGDx identified 11 pathogenic PTEN variants in 10 subjects, six PIK3CA variants in nine, three CTNNB1 variants in five, two KRAS variants in four, and three TP53 variants in three. Collectively, at least one pathogenic variant was identified in 19 subjects, which included 17 EC (15 endometrioid carcinoma and 2 endometrial carcinosarcomas), and one cervical adenocarcinoma. However, LBGDx did not identify any pathogenic mutations in three of the 20 EC, indicating that the sensitivity of LBGDx alone was 85% (17/20). Although five EC were negative for malignancy by LBC and three were negative for pathogenic mutations by LBGDx, the combination of LBC and LBGDx would successfully diagnose all 20 EC. These data suggested that LBGDx is a useful strategy to improve the sensitivity of screening of EC by LBC.

Keywords: amplicon sequencing; endometrial cancer; endometrial cytology; genetic diagnosis; liquid-based cytology.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Number of subjects classified by cytology in combination with transvaginal ultrasound and/or endometrial curettage, and that by liquid‐based genetic diagnosis (LBGDx). LBC, liquid‐based cytology
Figure 2
Figure 2
Variations in the five genes and their association with cytological, histological, and WHO stage classifications
See this image and copyright information in PMC

References

    1. Matsuura M, Takahashi A, Nomura H, et al. Analysis of a single para‐aortic lymph node metastasis in endometrial cancer. J Cancer Sci Ther. 2018;10(2):19‐21.
    1. Matsuura M, Suzuki T, Morishita M, Tanaka R, Ito E, Saito T. Chemotherapy (CT) with radiotherapy versus CT alone for FIGO stage3c endometrial cancer. Eur J Gynaec Oncol. 2009;30(1):40‐44. - PubMed
    1. Fulciniti F, Yanoh K, Karakitsos P, et al. The Yokohama system for reporting directly sampled endometrial cytology: the quest to develop a standardized terminology. Diagn Cytopathol. 2018;46(5):400‐412. - PubMed
    1. Yanoh K, Hirai Y, Sakamoto A, et al. New terminology for intrauterine endometrial samples: a group study by the Japanese society of clinical cytology. Acta Cytol. 2012;56(3):233‐241. - PubMed
    1. Lv S, Wang R, Wang Q, et al. A novel solution configuration on liquid‐based endometrial cytology. PLoS ONE. 2018;13(2):e0190851. - PMC - PubMed

Publication types

MeSH terms