Translational Study of MSS, TP53 Mutation and Chromosome Instability Relationship in Endometrial Carcinoma

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Endometrial Neoplasms; TP53 Gene Mutation; Chromosomal Instability; Microsatellite Stable Endometrial Carcinoma

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.

• Study Type: Observational
• Enrollment (Estimated): 110

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

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).

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
recurrence	disease recur	2026-06-30

Collaborators and Investigators

• Sponsor: Peking Union Medical College Hospital

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2024
• Primary Completion (Estimated): June 1, 2025
• Study Completion (Estimated): June 1, 2025

Study Registration Dates

• First Submitted: July 22, 2024
• First Submitted That Met QC Criteria: July 22, 2024
• First Posted (Actual): July 26, 2024

Study Record Updates

• Last Update Posted (Actual): July 26, 2024
• Last Update Submitted That Met QC Criteria: July 22, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Keywords: Endometrial Cancer; TP53 Gene Mutation; microsatellite stability; Chromosomal Instability; Whole genome duplication
• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Histologic Type; Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Neoplasms, Glandular and Epithelial; Uterine Neoplasms; Genital Neoplasms, Female; Uterine Diseases; Chromosome Aberrations; Genomic Instability; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Genital Diseases, Female; Carcinoma; Endometrial Neoplasms; Chromosomal Instability
• Other Study ID Numbers: ECMTC

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No