Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.

ABSTRACT:

Background

Endometrial cancer (EC) is one of the leading causes of cancer death among women and early detection is crucial for its successful treatment. We previously showed that cytological examination combined with genetic analysis using liquid-based cytology (LBC) samples improved the diagnostic sensitivity of EC.

Methods

Among 218 individuals who underwent endometrial screening by LBC, 208 samples were analysed by cancer-panel sequencing. Excluding 13 samples with low sequence coverage, we further analysed 195 samples.

Results

Among the 195 women analysed, 39 and 15 were eventually shown to suffer from malignant endometrial and non-endometrial neoplasms, respectively. Driver mutation(s) were found in nine of the 15 cytology-negative patients with endometrial malig

SUBMITTER: Matsuura M 

PROVIDER: S-EPMC11524081 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature