Liquid Biopsy-Based Early Screening for Endometrial Cancer in Regional Chinese Populations

NCT07892755 | Recruiting

• 1 other identifier: 2026-241
• Study Type: observational
• Target: 512
• Locations: 1 country
• Sites: 1

Brief Summary

Endometrial cancer is one of the most common gynecological malignancies, and its incidence is rising. Currently, there is a lack of highly effective and non-invasive screening methods. Liquid biopsy, which analyzes cell-free DNA (cfDNA) in the blood, has emerged as a promising approach for early cancer detection. This observational study aims to develop and evaluate a non-invasive blood test to screen for early-stage endometrial cancer and to distinguish between benign and malignant endometrial lesions. This study plans to enroll 512 female participants, divided into three groups: 216 patients with stage I-IV endometrial cancer, 80 patients with atypical endometrial hyperplasia (a precancerous condition), and 216 healthy controls. We will collect peripheral blood samples from all participants and perform low-pass whole-genome sequencing (WGS) on the extracted plasma cfDNA. By analyzing specific DNA features (such as DNA fragment patterns, end motifs, and copy number variations) and using artificial intelligence (machine learning), we will build a predictive model. This study hopes to establish a more effective, non-invasive early screening strategy to improve the clinical diagnosis of endometrial cancer in the Chinese population.

Conditions

Endometrial Cancer; Atypical Endometrial Hyperplasia

Keywords

Liquid Biopsy; Cell-Free DNA; Whole Genome Sequencing; Fragmentomics

Outcome Measures

Primary Outcomes (1)

• Diagnostic performance (sensitivity and specificity) of the cfDNA fragmentomics model for early screening of endometrial cancer

  Evaluate the accuracy and specificity of a multi-omics cfDNA-based model (incorporating fragmentomics and copy number variation features) in predicting the risk of endometrial cancer.

  At baseline (time of blood collection)

Secondary Outcomes (1)

• Ability of the cfDNA model to differentiate between benign and malignant endometrial lesions

  At baseline (time of blood collection)

Study Arms (3)

Cohort A: Endometrial Cancer

Patients with histologically and/or cytologically confirmed stage I-IV endometrial cancer. Baseline plasma samples and complete clinical and pathological information will be collected.

Cohort B: Atypical Endometrial Hyperplasia

Patients with atypical endometrial hyperplasia. Baseline plasma samples and complete clinical and pathological information will be collected.

Cohort C: Healthy Control

Healthy female subjects confirmed by systematic examination to have no tumors or suspicious nodules. Age-matched with Cohorts A and B. Baseline plasma samples will be collected.

Eligibility Criteria

• Age: Up to 18 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

he study includes three cohorts: 216 patients with stage I-IV endometrial cancer, 80 patients with atypical endometrial hyperplasia, and 216 age-matched healthy female controls. All participants are recruited from regional Chinese populations.

You may qualify if:

• Female, aged \> 18 years.
• Participants fully understand the study requirements and sign the written informed consent.
• Cohort A (Endometrial Cancer): Patients with histologically and/or cytologically confirmed stage I-IV endometrial cancer; comprehensive clinical and pathological information is available.
• Cohort B (Atypical Hyperplasia): Patients diagnosed with atypical endometrial hyperplasia; comprehensive clinical and pathological information is available.
• Cohort C (Healthy Control): Healthy female subjects with no tumors or suspicious nodules confirmed by systematic examination.

You may not qualify if:

• Pregnant women.
• Current diagnosis of tumors other than endometrial cancer or a history of previous tumors.
• Received any form of tumor treatment prior to blood draw, including surgery, radiotherapy/chemotherapy, endocrine therapy, targeted therapy, or immunotherapy.
• Current febrile illness, or acute/inflammatory disease requiring internal medical treatment within 14 days prior to blood draw.
• Organ transplant recipients or previous recipients of allogeneic bone marrow or stem cell transplants.
• Poor health status or unsuitable for blood draw.
• Any other clinically significant disease or condition that, in the investigator's opinion, may affect protocol compliance, affect the subject's ability to sign informed consent, or make the subject unsuitable for this clinical study.

Sponsors & Collaborators

• Guizhou Provincial People's Hospital: lead
• Nanjing Geneseeq Technology Inc.: collaborator

Study Sites (1)

Guizhou Provincial People's Hospital

Guiyang, Guizhou, 550002, China

RECRUITING

Related Publications (3)

• Cristiano S, Leal A, Phallen J, Fiksel J, Adleff V, Bruhm DC, Jensen SO, Medina JE, Hruban C, White JR, Palsgrove DN, Niknafs N, Anagnostou V, Forde P, Naidoo J, Marrone K, Brahmer J, Woodward BD, Husain H, van Rooijen KL, Orntoft MW, Madsen AH, van de Velde CJH, Verheij M, Cats A, Punt CJA, Vink GR, van Grieken NCT, Koopman M, Fijneman RJA, Johansen JS, Nielsen HJ, Meijer GA, Andersen CL, Scharpf RB, Velculescu VE. Genome-wide cell-free DNA fragmentation in patients with cancer. Nature. 2019 Jun;570(7761):385-389. doi: 10.1038/s41586-019-1272-6. Epub 2019 May 29.

  PMID: 31142840 BACKGROUND

• Liu J, Hu D, Lin Y, Chen X, Yang R, Li L, Zhan Y, Bao H, Zang L, Zhu M, Zhu F, Yan J, Zhu D, Zhang H, Xu B, Xu Q. Early detection of uterine corpus endometrial carcinoma utilizing plasma cfDNA fragmentomics. BMC Med. 2024 Jul 29;22(1):310. doi: 10.1186/s12916-024-03531-8.

  PMID: 39075419 BACKGROUND

• Rao Q, Zhou H, Weng W, He Y, Li N, He P, Tang W, He M, Zhu X, Zhu D, Bao H, Wu X, Wang H, Lin Z, Zhang B. Early detection, clinicopathological subtyping, and prognosis prediction for endometrial cancer patients using fragmentomics liquid biopsy assay. ESMO Open. 2025 Oct;10(10):105770. doi: 10.1016/j.esmoop.2025.105770. Epub 2025 Sep 24.

  PMID: 40992272 BACKGROUND

MeSH Terms

Conditions

Endometrial Neoplasms; Endometrial Hyperplasia

Condition Hierarchy (Ancestors)

Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases

Study Officials

• Yong Li, MD

  Guizhou Provincial People's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Yong Li, MD

CONTACT

+8613628566285; liyong7229771@163.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 18, 2026
• First Posted: October 23, 2026
• Study Start: August 10, 2026
• Primary Completion (Estimated): August 9, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: October 23, 2026

Record last verified: 2026-10

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)