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Lynch Syndrome-Associated Endometrial Cancer With Combined EPCAM-MSH2 Deletion: A Case Report
Rong Huang1, Xiangyu Deng1, Zhenhua Zhang1
1Department of Oncology, Affiliated Hospital of Southwest Medical University, Luzhou, China.
Background:
Lynch syndrome (LS), an autosomal dominant disorder, is characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes like MSH2. EPCAM deletions cause a minority (3%) of LS cases. However, there are only a few reports of LS-associated endometrial cancer (LS-EC) induced by the inactivation of the MSH2 gene due to EPCAM deletions.
Case Presentation:
We present the case of a 45-years old woman diagnosed with endometrial cancer (EC). Definitive surgery revealed meso-differentiated endometrioid adenocarcinoma, stage IA without lymph-vascular space invasion. Four months later, she received radiation therapy (125I radioactive seeds implantation), and platinum-containing regimen combined chemotherapy because of vaginal stump metastasis of EC. After five years, we performed immunohistochemistry (IHC) on pelvic mass because of presacral metastatic lymph node. IHC showed the absence of MSH2 and MSH6 protein expression in the pelvic mass tissue. Peripheral blood was used for genetic testing based on her cancer diagnosis and family history of cancer in close relatives. Genetic testing revealed deletions of exon 8 and 9 in EPCAM and deletions of exon 1 and 8 in MSH2; thus, we diagnosed the presence of LS. The patient underwent interstitial brachytherapy (BT) of the presacral metastatic lymph node.
Conclusion:
This case highlights that patients with LS-EC who are carriers of combined EPCAM-MSH2 deletion might experience better oncologic outcomes even with early recurrence.
Insights
Lynch syndrome-associated endometrial cancer (LS-EC) in a patient with combined EPCAM-MSH2 deletion showed potential for favorable outcomes despite early recurrence. This case emphasizes the importance of genetic testing for LS-EC.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Lynch syndrome (LS) is an autosomal dominant disorder caused by germline pathogenic variants in DNA mismatch repair (MMR) genes.
- EPCAM deletions account for a small percentage of LS cases, occasionally leading to MSH2 gene inactivation.
- Reports of LS-associated endometrial cancer (LS-EC) due to EPCAM deletions inactivating MSH2 are infrequent.
Purpose of the Study:
- To present a case of LS-EC in a patient with combined EPCAM-MSH2 deletion.
- To highlight the clinical course and genetic findings in this rare presentation of LS-EC.
- To discuss potential oncologic outcomes in patients with LS-EC carrying combined EPCAM-MSH2 deletions.
Main Methods:
- Case report of a 45-year-old woman diagnosed with endometrial cancer (EC).
- Immunohistochemistry (IHC) to assess MSH2 and MSH6 protein expression in tumor tissue.
- Peripheral blood genetic testing to identify EPCAM and MSH2 deletions.
Main Results:
- The patient was diagnosed with stage IA endometrioid adenocarcinoma, treated with surgery, radiation, and chemotherapy.
- Recurrence with vaginal stump metastasis and presacral lymph node metastasis occurred.
- IHC revealed absent MSH2 and MSH6 expression; genetic testing confirmed EPCAM and MSH2 deletions, diagnosing LS.
- The patient received interstitial brachytherapy for the presacral metastasis.
Conclusions:
- Patients with LS-EC harboring combined EPCAM-MSH2 deletions may exhibit improved oncologic outcomes, even with early disease recurrence.
- This case underscores the significance of comprehensive genetic evaluation in LS-EC management.
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