SRSF12 is a prognostic biomarker involved in immune infiltration in acute myeloid leukemia

Acute myeloid leukemia (AML) is a disease characterized by the proliferation of abnormal cells originating from blood stem cells. Understanding the pathogenesis and progression of AML, as well as identifying molecular markers for early diagnosis and prognosis assessment, is of paramount importance. The AML dataset was obtained from the Cancer Genome Atlas (TCGA), while the normal sample dataset was derived from the Genotype-Tissue Expression(GTEx) dataset. Furthermore, the association between SRSF12 expression and drug response was assessed using the Cancer Therapeutic Response Portal (CTRP) database to evaluate its potential therapeutic value. Finally, SRSF12 expression in AML cells was measured using quantitative real-time PCR (qRT-PCR). The difference in SRSF12 expression between 13 types of tumors and normal tissue samples was found to be statistically significant (<i>P</i> &lt; 0.05). SRSF12 exhibited predominantly high expression in AML, indicating its potential as a diagnostic and prognostic marker for AML patients. High expression of SRSF12, along with age and cytogenetic risk, emerged as independent predictors of favorable prognosis in AML patients (<i>P</i> &lt; 0.05). PCR demonstrated a significant increase in SRSF12 expression in AML patients. Overall, our findings suggest that the high expression of SRSF12 in AML patients is a poor prognostic factor, which may provide a new option for the diagnosis, and targeted therapy of AML. <b>What is the context?</b> Acute myeloid leukemia (AML) is a malignant clonal disease originating from hematopoietic stem progenitor cells. It is of great significance to identify the pathogenesis and development of AML and to search for molecular markers for early diagnosis and prognosis assessment. <b>What is new?</b> In this study, the expression of SRSF12 in AML patients was analyzed by bioinformatics and RT-qPCR, and the relationship between clinical traits and prognosis was analyzed, and it was found that SRSF12 was highly expressed in AML tissues, and in addition, high expression of SRSF12 was associated with good prognosis of patients, and its expression was correlated with white blood cell count, FAB stage and cytogenetics. Enrichment analysis showed that SRSF12 was mainly involved in PI3K-AKT signaling pathway, Jak-STA signaling pathway, etc., and the expression of SRSF12 was positively correlated with helper T cell infiltration, but negatively correlated with neutrophil and macrophage infiltration. PPI analysis showed that SRSF12 interacted with SRSF11 and other proteins, and we also found that SRSF12 expression was significantly associated with a variety of drugs in hematopoietic and lymphoid tissues. <b>What is the impact?</b> This study provides further evidence to prove it, SRSF12 may be used as a new potential biomarker to predict the prognosis and guide the precise diagnosis and treatment of patients in the future.

急性髓系白血病（Acute myeloid leukemia, AML）是一类起源于造血干细胞的异常细胞增殖性疾病。阐明AML的发病机制与疾病进展，同时筛选可用于早期诊断及预后评估的分子标志物，具有至关重要的临床意义。本研究的AML数据集取自癌症基因组图谱（The Cancer Genome Atlas, TCGA），正常样本数据集则来源于基因型-组织表达（Genotype-Tissue Expression, GTEx）数据库。此外，本研究借助癌症治疗反应门户（Cancer Therapeutic Response Portal, CTRP）数据库分析了SRSF12的表达与药物反应之间的关联，以评估其潜在治疗价值；同时采用实时定量聚合酶链反应（quantitative real-time PCR, qRT-PCR）检测了AML细胞中SRSF12的表达水平。研究发现，13种肿瘤组织与正常组织样本中SRSF12的表达差异具有统计学意义（*P* < 0.05）。SRSF12在AML组织中呈显著高表达，提示其可作为AML患者的诊断及预后标志物。SRSF12高表达与患者年龄、细胞遗传学风险一同被证实为AML患者良好预后的独立预测因素（*P* < 0.05）。qRT-PCR结果显示，AML患者体内SRSF12的表达水平显著升高。综上，本研究结果表明，AML患者体内SRSF12高表达是一项不良预后因素，该发现可为AML的诊断及靶向治疗提供全新思路。**研究背景**：急性髓系白血病（AML）是一类起源于造血干祖细胞的恶性克隆性疾病。阐明AML的发病机制与疾病进展，筛选用于早期诊断及预后评估的分子标志物，具有重要的研究价值。**研究创新点**：本研究通过生物信息学分析与RT-qPCR技术，检测了AML患者体内SRSF12的表达水平，并分析了其与临床特征及预后的关联。结果显示，SRSF12在AML组织中呈高表达，且其高表达与患者良好预后相关；此外，SRSF12的表达水平与白细胞计数、FAB分型及细胞遗传学特征密切相关。富集分析结果表明，SRSF12主要参与PI3K-AKT信号通路、Jak-STAT信号通路等生物学过程；其表达水平与辅助性T细胞浸润呈正相关，而与中性粒细胞及巨噬细胞浸润呈负相关。蛋白质相互作用（Protein-Protein Interaction, PPI）分析显示，SRSF12可与SRSF11等蛋白发生相互作用；同时本研究还发现，SRSF12的表达与造血及淋巴组织中的多种药物敏感性显著相关。**研究意义**：本研究进一步证实SRSF12可作为新型潜在生物标志物，用于未来临床中预测患者预后、指导精准诊疗，为AML的诊疗提供新的潜在方向。