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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.
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.
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| Measure | Description | Time Frame |
|---|---|---|
| microsatellite stability status | microsatellite stability status | 2025-06-30 |
| TP53 mutation | TP53 mutation | 2025-06-30 |
| Chromosomal instability | Chromosomal instability (Whole genome duplication, Aneuploidy) | 2025-06-30 |
| Measure | Description | Time Frame |
|---|---|---|
| recurrence | disease recur | 2026-06-30 |
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Inclusion Criteria:
Exclusion Criteria:
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Prospective and retrospective samples were collected from September 1, 2024 to June 30, 2025, with an estimated total sample size of 110 cases, including 80 fresh tumor tissues and 30 archival tumor tissues. There were 40 TP53 mutations (high copy type) and 70 TP53 negative (MSS type).
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Preserved or fresh tumor tissue. Tumor tissue samples were embedded in paraffin wax, section thickness was 6μm, and section number was 10 (surgical tissue) or 15 (puncture tissue). Tumor cell content > 30%.
| ID | Term |
|---|---|
| D016889 | Endometrial Neoplasms |
| D043171 | Chromosomal Instability |
| ID | Term |
|---|---|
| D014594 | Uterine Neoplasms |
| D005833 | Genital Neoplasms, Female |
| D014565 | Urogenital Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D014591 | Uterine Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D000091662 | Genital Diseases |
| D002869 | Chromosome Aberrations |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D042822 | Genomic Instability |
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