Key Studies Investigating L1 in Endocrine-Related Cancers

Context: Long Interspersed Nuclear Element-1 (L1) retrotransposons, constituting 17% of the human genome, have emerged as key contributors to endocrine tumor biology. Deregulation of L1 in several cancers has been linked to tumor progression, genomic instability, and potential therapeutic vulnerabilities. Understanding the role of L1 in endocrine malignancies is crucial for improving diagnostic and therapeutic strategies.Evidence Acquisition: We conducted a systematic literature review of studies published through December 2024. Articles were screened based on L1 expression, methylation status, protein translation, and genomic integration events in endocrine-related cancers. Studies on L1-associated biomarker potential and therapeutic targeting were also evaluated.Evidence Synthesis: L1 expression and hypomethylation are consistently observed across multiple endocrine malignancies, with the highest prevalence in ovarian and prostate cancers. L1 deregulation contributes to tumorigenesis by promoting genomic instability and interacting with key oncogenic pathways, such as TP53. Emerging evidence highlights the potential of L1-based biomarkers, for early cancer detection and prognosis. Therapeutic interventions targeting L1 have demonstrated promising preclinical and early clinical trial results. Advanced bioinformatic tools have facilitated the identification of L1 insertions and expression profiles, enhancing our understanding of L1's impact on endocrine tumor biology.