Late Breaking Abstract - Identification and Significance of Single Nucleotide Variants in Large Cell Neuroendocrine Carcinoma of the Lung

<bold>Background:</bold> Single Nucleotide Variants (SNVs) represent variations in the genome where a single nucleotide differs among individuals or paired chromosomes. Non-synonymous SNVs alter protein sequences and potentially affect function, while synonymous SNVs do not. Although many SNVs are neutral, some are pathogenic and influence disease susceptibility and drug response. Emerging research highlights the importance of SNVs in non-small cell lung cancer as biomarkers for diagnosis, prognosis, and therapeutic targets. <bold>Aims:</bold> To detect SNVs in large cell neuroendocrine carcinoma (LCNEC). <bold>Methods:</bold> We employed advanced sequencing technologies and comprehensive bioinformatics tools to detect and interpret SNVs. The study involved analyzing genomic data to identify SNVs that are deleted or duplicated, followed by statistical tests to determine the randomness of SNV occurrence. Specific focus was given to identifying SNVs in critical genes associated with LCNEC. <bold>Results:</bold> Our analysis identified several significant SNVs that were either deleted or duplicated, and statistical tests indicated non-random occurrence patterns. Notably, we discovered several vital SNVs in genes, such as MLH-1, which are implicated in the development and progression of LCNEC. The findings suggest potential biomarkers for targeted therapy and prognosis in LCNEC patients. <bold>Conclusion:</bold> The research highlights the critical role of SNVs in understanding the molecular pathology of LCNEC and emphasizes the potential of SNVs as biomarkers for diagnosis, prognosis, and therapeutic targets. Continued investigation into SNVs is essential for advancing personalized medicine and improving patient outcomes in LCNEC.