Abstract
BACKGROUND: Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are chronic hematological malignancies characterized by driver and nondriver mutations, leading to a deregulated immune system with aberrant cytokines and immune cells. Understanding the gene mutation landscape and immune state at various disease stages is crucial for guiding treatment decisions. While advanced techniques like single-cell RNA sequencing and mass cytometry provide valuable insights, their high costs and complexity limit clinical application. In contrast, bulk RNA sequencing (RNA-Seq) offers a cost-effective complementary approach for evaluating genetic mutations and immune profiles. METHODS: Peripheral blood and bone marrow samples from treatment-naïve patients diagnosed with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) were analyzed using RNA sequencing. Additionally, data from the microarray datasets [GSE26049, GSE2191] were included in this study. Bioinformatics methods were employed to interpret gene mutations and immune landscapes in MPN patients. RESULTS: Our findings demonstrate the potential value of RNA-Seq in identifying gene mutations and characterizing the immune profile, including immune cell infiltration, cytokine profiles, and distinct immune-related pathways involved in the development of MPN. CONCLUSION: Bulk RNA-Seq is a feasible tool for routine clinical practice, providing comprehensive insights into the immune and genetic landscape of MPNs. This approach could enhance personalized treatment strategies and improve prognostic accuracy, ultimately contributing to better management of MPN patients.