Clinical significance of germline multi-gene panel testing in patients with endometrial cancer
10.3760/cma.j.cn114452-20241114-00625
- VernacularTitle:胚系多基因检测在子宫内膜癌患者中的临床应用研究
- Author:
Huiqin JIANG
1
;
Fei HUANG
1
;
Xinning CHEN
1
;
Chunyan ZHANG
1
;
Baishen PAN
1
;
Beili WANG
1
;
Wei GUO
1
Author Information
1. 复旦大学附属中山医院检验科，上海 200032
- Publication Type:Journal Article
- Keywords:
Endometrial neoplasms;
DNA mismatch repair;
Germline mutation;
Multi-gene panel testing
- From:
Chinese Journal of Laboratory Medicine
2025;48(9):1194-1200
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the relationship between clinicopathological features and germline mismatch repair (MMR) gene variants in endometrial cancer patients and to evaluate the clinical utility of germline multi-gene panel testing.Methods:This single-center, retrospective case series study included 100 endometrial cancer patients treated in Zhongshan Hospital, Fudan University between July 2022 and February 2024. We collected clinicopathological data and tumor molecular testing results. 61 cancer susceptibility genes were tested using next-generation sequencing, and the associations between the detection rate of germline variants and the clinicopathological characteristics in endometrial cancer patients were explored.Results:Among 100 patients, 28% (28/100) were found to have pathogenic variants in cancer susceptibility genes, of which 20 patients carried germline MMR gene variants and the remaining 8 patients carried variants in other cancer susceptibility genes. Of the 20 patients diagnosed with Lynch syndrome, only 40% (8/20) met the Chinese family history criteria for Lynch syndrome. Among 53 patients with intact MMR protein expression, 1 patient was identified with a germline MMR gene variant. In the 14 Lynch syndrome patients with confirmed microsatellite status, 5/14 of those showed low microsatellite instability or microsatellite stability. Germline multi-gene panel testing in all endometrial cancer patients additionally identified 1 Lynch syndrome patient and 8 patients with non-Lynch hereditary cancers.Conclusion:Current clinical screening criteria may miss some endometrial cancer patients with Lynch syndrome. Compared with traditional screening pattern, germline multi-gene panel testing not only improves the detection rate of Lynch syndrome in endometrial cancer patients but also identifies other hereditary cancer predispositions.
