Colorectal Neoplasms, Hereditary Nonpolyposis, Endometrial Neoplasms
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTimmunohistochemical staining
immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2
DIAGNOSTIC_TESTtests of microsatellite instability
microsatellite instability in tissues of endometrial cancer
DIAGNOSTIC_TESTclinical criteria of Lynch syndromes
Amsterdam I or II criteria and Bethesda criteria
DIAGNOSTIC_TESTsequencing for mismatch repair genes
next-generation sequencing, Sanger method or qPCR for mismatch repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM)
Sponsors
Lei Li
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Survivals of endometrial cancer
Exclusion criteria
* Metatatic malignacies to uterine * Leiomyosarcoma of uterus
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Distribution of Lynch syndromes in endometrial cancer | 2 years | Proportions of patients carrying mismatch repair gene in endometrial cancer |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Reliability of immunohistochemical staining for screening Lynch syndromes | 2 years | Sensitiviy and specitiviy of immunohistochemical staining for screening Lynch syndromes |
| Reliability of microsatellite instability for screening Lynch syndromes | 2 years | Sensitiviy and specitiviy of microsatellite instability for screening Lynch syndromes |
| Reliability of clinical criteria for screening Lynch syndromes | 2 years | Sensitiviy and specitiviy of clinical criteria for screening Lynch syndromes |
Countries
China
Contacts
Primary ContactLei Li, MD
Outcome results
None listed