Chromosomal Instability, Endometrial Neoplasms, Microsatellite Stable Endometrial Carcinoma, TP53 Gene Mutation
Conditions
Keywords
Endometrial Cancer, Chromosomal Instability, microsatellite stability, TP53 Gene Mutation, Whole genome duplication
Brief summary
The objective is to understand the relationship between TP53 mutation, MSS and chromosome instability in endometrial cancer and the effect on clinical prognosis.We will collect a small amount of tumor tissue samples. NGS panel detection and WGD/AS analysis were performed on the tissue. Paracancer tissue was used as a negative control and relevant information in medical records during the operation. Then we will collect clinical diagnosis and disease information through telephone follow-up after the completion of the operation.
Detailed description
The test is sequenced using Illumina high-throughput sequencers and accompanying kits. Conduct preliminary quality control on the samples, and the tumor cell content of the tissue samples shall not be less than 30%. Tissue DNA was extracted from tumor tissue samples according to the instructions of the QIAGEN DNA extraction kit. Samples qualified for quality control shall be arranged for further library construction. The extracted DNA samples were sequentially purified by fragment purification, terminal repair, splicing, fragment size selection, PCR amplification, product purification, library enrichment, and library product quality control. After qualified quality control, the constructed library was sequenced by Illumina matching kit. Bioinformatics analysis would be conducted.
Interventions
None listed
Sponsors
Peking Union Medical College Hospital
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* willing to participate in the study and sign the informed consent * age ≥18 years old * researchers evaluated that it was suitable to participate in this translational study * Endometrial cancer was confirmed histologically * histopathological molecular classification was consistent with pMMR type and POLE wild type * The tumor tissue obtained by operation was the primary lesion
Exclusion criteria
* Received chemotherapy within 14 days prior to sample collection, or received anti-tumor drug therapy such as radiotherapy, biotherapy, endocrine therapy, targeted therapy, immunotherapy, within 21 days prior to sample collection * previously treated with KIF18A inhibitors * researchers believed that the subjects were not suitable for the translational study for other reasons
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| microsatellite stability status | 2025-06-30 | microsatellite stability status |
| TP53 mutation | 2025-06-30 | TP53 mutation |
| Chromosomal instability | 2025-06-30 | Chromosomal instability (Whole genome duplication, Aneuploidy) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| recurrence | 2026-06-30 | disease recur |
Outcome results
None listed