RUNX1 Mutations in Stomach Adenocarcinoma: Unveiling a New Player in Solid Tumors and Its Immune Microenvironment Impact

Introduction: RUNX1, a transcription factor crucial for hematopoiesis and frequently mutated in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), has recently been implicated in solid tumors. This study investigates the role of RUNX1 mutations in stomach adenocarcinoma and their impact on the tumor immune microenvironment.

Methods: Bioinformatic approaches using GEPIA (Gene Expression Profiling Interactive Analysis) and TIMER (Tumor Immune Estimation Resource) were used to analyze gene expression data and immune cell infiltration in stomach adenocarcinoma samples with and without RUNX1 mutations.

Results: Stomach adenocarcinomas harboring RUNX1 mutations exhibited significantly higher levels of macrophage infiltration compared to wild-type tumors. Gene expression analysis revealed upregulation of key inflammatory mediators, including IFNG, TNF, IL1B, and NLRP3, in RUNX1-mutated samples. These findings suggest a strong association between RUNX1 mutations and an enhanced inflammatory tumor microenvironment.

Conclusions: This study establishes a potential link between RUNX1 mutations, increased immune cell recruitment, and elevated expression of pro-inflammatory genes in stomach adenocarcinoma. This altered immune landscape may have important implications for disease progression and the development of targeted therapeutic approaches. Furthermore, these findings extend our understanding of RUNX1's role beyond hematological malignancies, highlighting its significance in solid tumors and opening new avenues for research and potential therapeutic interventions.