Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in...

Area of Science:

• Oncology
• Genetics
• Biomarkers

Background:

• Circulating tumor DNA (ctDNA) is a valuable, minimally invasive biomarker for assessing tumor burden and treatment response.
• Accurate monitoring of liver disease, particularly hepatocellular carcinoma (HCC), is crucial for effective patient management.

Purpose of the Study:

• To evaluate the utility of targeted next-generation sequencing (NGS) for ctDNA mutation profiling in patients with liver disease.
• To identify common mutations and patterns in ctDNA associated with hepatocellular carcinoma (HCC).

Main Methods:

• Targeted next-generation sequencing (NGS) was performed on 90 ctDNA samples from patients with liver disease and 10 healthy controls.
• A gene panel of 176 cancer-relevant genes was employed to detect mutations.
• Identified variants were analyzed for their frequency, location, and co-occurrence patterns.

Main Results:

• Mutations were detected in 98.89% of patient ctDNA samples.
• Nineteen coding variants in 10 cancer-related genes, including TP53, ACVR2A, and MUC16, were identified in 96.7% of patients.
• Insertions and deletions were the most common mutation types, found in nearly 95% of patients.

Conclusions:

• Targeted NGS-based ctDNA mutation profiling is a sensitive tool for detecting mutations in liver disease patients.
• This approach holds potential for monitoring hepatocellular carcinoma (HCC) and informing treatment strategies.