This retrospective case-control study aims to investigate the genetic mechanisms of primary Pulmonary Lymphoepithelioma-like Carcinoma, identify genetic susceptibility loci associated with its onset, and explore potential pathogenic genes, providing new insights for its etiological research.

Pulmonary lymphoepithelioma-like carcinoma (pLELC) is a rare non-small cell lung cancer (NSCLC) that histologically resembles nasopharyngeal carcinoma (NPC) and predominantly affects the Asian population. Epstein-Barr virus (EBV) infection is a recognized pathogenic factor, and the regional prevalence of pLELC suggests that genetic susceptibility also plays an important role. However, no genetic studies on pLELC have been conducted, leaving its genetic etiology poorly understood. In this study, genotyping for all the subjects was performed by using Illumina Infinium Global Screening Array. Genome-wide association followed by meta-analysis was performed for pLELC cases and healthy controls. The primary objective of this study is to discover susceptibility genes that explain the genetic mechanisms of pLELC.

Case:

Inclusion criteria:

The subject is pathologically diagnosed with primary pulmonary lymphoepithelioma-like carcinoma.

Exclusion criteria:

The subject is diagnosed with metastatic nasopharyngeal carcinoma; The subject has heavy cardiovascular, liver, or kidney disease.

Controls:

Inclusion criteria:

The subject is in good physical condition and has a stable level of consciousness;

Exclusion criteria:

The subject has prevalent cancer; The subject has heavy cardiovascular, liver, or kidney disease.

The study population consisted of cases and controls with specific inclusion and exclusion criteria. Cases were individuals pathologically diagnosed with primary pulmonary lymphoepithelioma-like carcinoma (PLELC), excluding those with metastatic nasopharyngeal carcinoma or severe cardiovascular, liver, or kidney disease. Controls were individuals in good physical condition with stable levels of consciousness, excluding those with a history of cancer or severe cardiovascular, liver, or kidney disease.

To prioritize participant confidentiality and privacy, we have decided not to release Individual Participant Data (IPD). This decision reflects our commitment to safeguarding the sensitive information of participants, in full compliance with ethical standards and privacy laws. It is taken to protect the well-being and privacy of all individuals involved in the study.