Liquid Biopsy Using Methylation Sequencing for Lung Cancer

Clinical Utility of Circulating Tumor DNA Methylation in the Diagnosis of Primary Lung Cancer

This study aims to investigate the utility of circulating tumor DNA (ctDNA) methylation sequencing in the diagnosis of primary lung cancer.

Study Overview

• Status: Completed
• Conditions: Lung Cancer; Diagnoses Disease
• Intervention / Treatment: Diagnostic test: Circulating Tumor DNA Methylation Sequencing

Detailed Description

Plasma sample of patients with and without lung cancer will be collected and analyzed using methylation-sensitive enzyme sequencing method. Diagnostic performance of ctDNA methylation sequencing will be compared with that of tumor markers (CEA, Cyfra 21-1, and NSE) combined.

• Study Type: Observational
• Enrollment (Actual): 280

Contacts and Locations

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of
    • Samsung Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 15 years to 85 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

• Lung cancer

  1. Pathologically proven lung cancer

  2. Clinically suspected lung cancer on chest CT scan

     1. nodule, mass, pulmonary infiltrate, or consolidation
     2. size : diameter at least 1 cm
     3. CT attenuation of solid or part-solid
     4. planned to follow-up, biopsy, or surgical resection

• Benign pulmonary disease

  1. COPD : post bronchodilator FEV1/FVC < 0.7 and FEV1 pred < 80%
  2. ILD : either histologic or clinical diagnosis
  3. Pneumonia : community or hospital acquired
  4. Bronchiectasis : chest CT diagnosis
  5. NTM : at least 2 isolation of pathogen from sputum
  6. Pulmonary vascular disease : embolism, pulmonary hypertension, arteriovenous malformation

Description

Inclusion Criteria:

• Lung cancer group

  1. Pathologically proven lung cancer
  2. Clinically suspected lung cancer on chest CT scan

• Benign pulmonary disease group

  • Chronic obstructive pulmonary disease, interstitial lung disease, pneumonia, bronchiectasis, non-tuberculous mycobacterial lung disease, pulmonary vascular disease

Exclusion Criteria:

• Patients with previous history of lung cancer
• Patients who have been diagnosed with other malignancy within 5 years
• Unstable vital status
• Active pulmonary tuberculosis
• Infection with hepatitis B virus (HBV), hepatitis C virus (HCV), or human immunodeficiency virus (HIV)

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Lung cancer	Diagnostic test: Circulating Tumor DNA Methylation Sequencing; Whole blood (21mL) collection through venipuncture. Analysis of tumor markers and ctDNA methylation sequencing.
Benign pulmonary disease	Diagnostic test: Circulating Tumor DNA Methylation Sequencing; Whole blood (21mL) collection through venipuncture. Analysis of tumor markers and ctDNA methylation sequencing.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic sensitivity of ctDNA methylation sequencing	Using pathologic diagnosis of lung cancer as gold standard, diagnostic sensitivity of ctDNA methylation will be compared with that of tumor markers.	2 year
Diagnostic specificity of ctDNA methylation sequencing	Using pathologic diagnosis of lung cancer as gold standard, diagnostic specificity of ctDNA methylation will be compared with that of tumor markers.	2 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic accuracy of ctDNA methylation sequencing	Using pathologic diagnosis of lung cancer as gold standard, diagnostic accuracy of ctDNA methylation will be compared with that of tumor markers.	2 year
Positive predictive value of ctDNA methylation sequencing	Using pathologic diagnosis of lung cancer as gold standard, positive predictive value of ctDNA methylation will be compared with that of tumor markers.	2 year
Negative predictive value of ctDNA methylation sequencing	Using pathologic diagnosis of lung cancer as gold standard, negative predictive value of ctDNA methylation will be compared with that of tumor markers.	2 year

Collaborators and Investigators

• Sponsor: Samsung Medical Center
• Collaborators: EDGC Inc.
• Investigators: Principal Investigator: Sang-Won Um, MD, PhD, Samsung Medical Center

Study record dates

Study Major Dates

• Study Start (Actual): February 3, 2020
• Primary Completion (Actual): January 31, 2022
• Study Completion (Actual): January 31, 2022

Study Registration Dates

• First Submitted: January 31, 2020
• First Submitted That Met QC Criteria: January 31, 2020
• First Posted (Actual): February 5, 2020

Study Record Updates

• Last Update Posted (Actual): February 8, 2022
• Last Update Submitted That Met QC Criteria: February 5, 2022
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Keywords: Lung Cancer; Liquid Biopsy; Methylation Sequencing
• Additional Relevant MeSH Terms: Pathologic Processes; Respiratory Tract Diseases; Neoplasms; Lung Diseases; Neoplasms by Site; Respiratory Tract Neoplasms; Thoracic Neoplasms; Lung Neoplasms; Disease
• Other Study ID Numbers: 2019-11-080

Drug and device information, study documents

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