Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer

Study Overview
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Brief Summary
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In patients diagnosed as endometrial cancer by thorough pathologic examinations, Lynch syndromes are screened by (1)immunohistochemical staining (for MLH1, MSH2, MSH6 and PMS2), (2) tests of microsatellite instability and (3) clinical criteria (Amsterdam I or II criteria and Bethesda criteria). For patients with any suspicious discoveries of Lynch syndromes from aforementioned screening methods, a molecular diagnosis with next-generation sequencing for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) is given to confirm Lynch syndromes. For patients of Lynch syndromes and endometrial cancer, relatives of blood lineage are tested by Sanger method or qPCR to find out carriers of mutation genes of Lynch syndromes.

Official Title
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Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer

Conditions
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Colorectal Neoplasms, Hereditary Nonpolyposis, Endometrial Neoplasms

Intervention / Treatment
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* Diagnostic Test: immunohistochemical staining
* Diagnostic Test: tests of microsatellite instability
* Diagnostic Test: clinical criteria of Lynch syndromes
* Diagnostic Test: sequencing for mismatch repair genes


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Survivals of endometrial cancer Exclusion Criteria: Metatatic malignacies to uterine Leiomyosarcoma of uterus

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Diagnostic Test: immunohistochemical staining|immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2|
|Diagnostic Test: tests of microsatellite instability|microsatellite instability in tissues of endometrial cancer|
|Diagnostic Test: clinical criteria of Lynch syndromes|Amsterdam I or II criteria and Bethesda criteria|
|Diagnostic Test: sequencing for mismatch repair genes|next-generation sequencing, Sanger method or qPCR for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM)|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Distribution of Lynch syndromes in endometrial cancer | Proportions of patients carrying mismatch repair gene in endometrial cancer | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Reliability of immunohistochemical staining for screening Lynch syndromes | Sensitiviy and specitiviy of immunohistochemical staining for screening Lynch syndromes | 2 years | 
| Reliability of microsatellite instability for screening Lynch syndromes | Sensitiviy and specitiviy of microsatellite instability for screening Lynch syndromes | 2 years | 
| Reliability of clinical criteria for screening Lynch syndromes | Sensitiviy and specitiviy of clinical criteria for screening Lynch syndromes | 2 years |