Acute myelogenous leukemia (AML) is one of the major hematological malignancies. In the human genome, several have been found to originate from retroviruses, and some of which are involved in the progression of various cancers. Hence, to investigate whether retroviral-like genes are associated with AML development, we conducted a transcriptome sequencing analysis of 12 retroviral-like genes of 150 AML patients and 32 healthy donor samples, of which RNA sequencing data were obtained from public databases. We found high expression of ERV3-1, an envelope gene of endogenous retrovirus group 3 member 1, in all AML patients examined in this study. In particular, blood and bone marrow cells of the myeloid lineage in AML patients, exhibited higher expression of ERV3-1 than those of the monocytic AML lineage. We also examined the protein expression of ERV3-1 by immunohistochemical analysis and found expression of the ERV3-1 protein in all 12 myeloid-phenotype patients and 7 out of 12 monocytic-phenotype patients, with a particular concentration observed at the membrane of some leukemic cells. Transcriptome analysis further suggested that upregulated ERV3-1 expression may be associated with chromosome 8 trisomy as anomaly was found to be more common among the high expression group than the low expression group. However, this finding was not corroborated by the immunohistochemical data. This discrepancy may have been caused, in part, by the small number of samples analyzed in this study. Although the precise associated molecular mechanisms remain unclear, our results suggest that ERV3-1 may be involved in AML development.

急性骨髓性白血病（AML）是主要的血液学恶性肿瘤之一。在人类基因组中，已经发现一些起源于逆转录病毒，其中一些与各种癌症的进展有关。因此，为了调查类逆转录病毒是否与AML发生有关，我们对150例AML患者和32个健康供体样品中的12个逆转录病毒样基因进行了转录组测序分析，其RNA测序数据来自公共数据库。我们在本研究检查的所有AML患者中均发现ERV3-1（内源性逆转录病毒第3组成员1的包膜基因）高表达。特别是，AML患者的髓系谱系的血液和骨髓细胞表现出较高的ERV3-1表达比单核AML谱系要高。我们还通过免疫组织化学分析检查了ERV3-1的蛋白表达，发现在所有12例髓样表型患者和12例单核细胞表型患者中有7例ERV3-1蛋白的表达，在某些白血病细胞膜上观察到了特定浓度细胞。转录组分析进一步表明，ERV3-1表达上调可能与8号染色体三体性有关，因为发现高表达组比低表达组更常见异常。但是，免疫组织化学数据并未证实这一发现。这种差异可能部分是由于本研究中分析的样品数量少。尽管尚不清楚确切的相关分子机制，