Identifying Genomic Mutations of Multiple Primary Lung Cancers by Circulating Tumor DNA

A Prospective Study of Identifying Genomic Mutations of Multiple Primary Lung Cancers by Circulating Tumor DNA

Targeted next generation sequencing (NGS) provides a promising method for diagnostic purposes by enabling the simultaneous detection of multiple gene mutations. This study is to evaluate the feasibility and application value by using NGS into identifying genomic mutations in multiple or multifocal primary lung cancers in cell-tumor DNA (ctDNA) from surgical patients

Tumor samples originating from clinically considered multiple or multifocal primary lung cancer patients were available for mutational analysis. DNA and RNA were extracted from fresh tumor tissue or formalin-fixed, paraffin-embedded (FFPE) tissue. A series of cancer-related genomic alterations including single nucleotide variations (SNVs), short insertions and deletions (InDels), copy number variations (CNVs) and gene rearrangements were identified by a comprehensive NGS Panal . High frequency mutations were also identified in blood sample by droplet digital polymerase chain reaction(ddPCR).

Inclusion Criteria:

• Patients must have given written informed consent
• Histopathologically confirmed NSCLC
• Considered multiple or multifocal primary lung cancer by clinical criteria

Exclusion Criteria:

• Malignant tumor history within the past 5 years
• Patients who received any treatment prior to resection
• Insufficient tumor tissue or blood sample