Predictive Value of PREMM5, MMRpredict, and Universal Tumor Screening for Lynch Syndrome in Vietnam

NCT06863038 | Not Yet Recruiting

• 1 other identifier: VN_Predict_Lynch_241223
• Study Type: observational
• Target: 572
• Locations: 1 country
• Sites: 1

Brief Summary

This study evaluates the predictive value of PREMM5, MMRpredict models, and Universal Tumor Screening in detecting Lynch Syndrome in colorectal cancer (CRC) patients in Vietnam. Vietnamese CRC patients (18-70 years) undergoing colonoscopy will be enrolled. Participants will complete a medical history questionnaire and provide blood samples for genetic testing. Tumor biopsy specimens will undergo Immunohistochemistry staining, BRAF V600E mutation, and MLH1 methylation analysis in case of loss of MLH1/PMS2 expression. Next-Generation Sequencing will detect germline MMR mutations, and biallelic somatic mutations will be analyzed if no germline mutations are found.

Conditions

Lynch Syndrome; Colorectal Cancer (CRC)

Keywords

Lynch Syndrome; Universal Tumor Screening; Colorectal cancer; PREMM5; MMRpredict

Outcome Measures

Primary Outcomes (1)

• Predictive Value of PREMM5, MMRpredict, and Universal Tumor Screening for Lynch Syndrome in Colorectal Cancer Patients

  The study evaluates the diagnostic accuracy of PREMM5, MMRpredict models, and Universal Tumor Screening (IHC testing) in detecting Lynch Syndrome (LS) in colorectal cancer (CRC) patients. The outcome will be assessed by calculating sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and area under the receiver operating characteristic curve (AUC-ROC) for each screening method compared to gold-standard germline MMR gene mutation testing (via Next-Generation Sequencing - NGS).

  At study completion (Month 24). The primary outcome will be analyzed after all participants have completed sample collection, genetic testing, and data processing, expected within 24 months from study initiation.

Secondary Outcomes (4)

• Prevalence of Lynch Syndrome in Colorectal Cancer Patients

  At study completion (Month 24)

• Clinical Characteristics of Lynch Syndrome-Associated CRC

  At study completion (Month 24)

• Endoscopic and histopathological features of Lynch Syndrome-Associated CRC

  At study completion (Month 24)

• Comparison of Screening Criteria and Prediction Models for Lynch Syndrome

  At study completion (Month 24)

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will include Vietnamese patients aged 18-70 years who undergo colonoscopy at the University Medical Center Ho Chi Minh City and Nguyen Tri Phuong Hospital with suspected colorectal tumors. Eligible participants will be those diagnosed with colorectal adenocarcinoma through biopsy.

You may qualify if:

• Aged 18 to 70 years
• Provide informed consent to participate in the study
• Undergo colonoscopy with endoscopic findings suspicious for CRC
• Have biopsy-confirmed adenocarcinoma through colonoscopic biopsy

You may not qualify if:

• Active gastrointestinal bleeding
• Currently using anticoagulants or antiplatelet agents
• History of coagulation disorders or difficulty controlling bleeding
• Incomplete colonoscopy to the cecum (excluding cases of tumor-induced obstruction)

Sponsors & Collaborators

• University of Medicine and Pharmacy at Ho Chi Minh City: lead
• Gene Solutions: collaborator

Study Sites (1)

University of Medicine and Pharmacy at Ho Chi Minh City

Ho Chi Minh City, 700000, Vietnam

Location

Biospecimen

Retention: SAMPLES WITH DNA

This study will retain formalin-fixed paraffin-embedded (FFPE) tumor tissue samples and peripheral blood samples collected from participants. Tumor biopsy specimens will be obtained during colonoscopy and used for histopathological analysis, immunohistochemistry (IHC), BRAF V600E mutation analysis, and MLH1 methylation assessment. Blood samples (2 mL in EDTA tubes) will be used for germline DNA extraction and Next-Generation Sequencing (NGS) for MMR gene mutations. Tumor tissue may also undergo somatic MMR gene sequencing in cases without germline mutations. Samples will be stored securely at -80°C for blood DNA and at room temperature for FFPE blocks following institutional biorepository guidelines.

MeSH Terms

Conditions

Colorectal Neoplasms, Hereditary Nonpolyposis; Colorectal Neoplasms

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Rectal Diseases

Study Officials

• Doan TN Nguyen, MD

  University of Medicine and Pharmacy at Ho Chi Minh City

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Doan TN Nguyen, MD

CONTACT

+84918206883; nhadoannguyen@ump.edu.vn

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 28, 2025
• First Posted: March 7, 2025
• Study Start: March 17, 2025
• Primary Completion (Estimated): March 17, 2027
• Study Completion (Estimated): November 30, 2027
• Last Updated: March 7, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

VN (1)