神经纤维瘤病型1（NF1）是一种影响多种组织发育和生长的常染色体显性遗传病。NF1是恶性外周神经鞘肿瘤、视神经胶质瘤和白血病发生的主要风险因素。NF1编码神经纤维微黄蛋白（neurofibromin）。EVI2A、EVI2B和OMGP这三个基因位于NF1的27b内含子内。然而，这些基因的功能尚不清楚。EVI2A和EVI2B编码可能的跨膜蛋白。小鼠同源基因与小鼠白血病相关的病毒插入有关。小鼠Evi2b已被确认为C/EBPα的直接靶基因，C/EBPα是对髓系细胞分化至关重要的转录因子。这些基因与NF1患者观察到的白血病有关也是有可能的。这些基因可能作为NF1表型变异的调节因子。因此，我们对白血病和NF1肿瘤中的EVI2B基因进行了研究。我们分析了10例、20例和3例NF1、白血病和NF1-白血病患者的DNA，以及六个NF1肿瘤组织。通过DNA测序分析确定了病毒整合序列，并使用流式细胞术和定量实时PCR技术分析了蛋白质含量和EVI2B基因表达。与对照相比，表皮神经纤维瘤中EVI2B基因表达在蛋白质和mRNA水平上都增加了。然而，与对照相比，结节性神经纤维瘤的蛋白质水平显著降低，而mRNA水平增加。此外，还检测到外显子末端附近的455个碱基的整合。当将该整合序列与NCBI逆转录病毒基因组数据库进行比对时，与HIV-1病毒的包膜基因的匹配度达到了87%。这些初步结果显示EVI2B在NF1肿瘤发生和白血病中可能具有重要作用。©2023年，作者在Springer Science+Business Media, LLC独家授权下发表，归Springer Nature所有。

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that affects the development and growth of various tissues. NF1 is a major risk factor for the development of malignancies, particularly malignant peripheral nerve sheath tumors, optic gliomas, and leukemia. NF1 encodes a neurofibromin. Three genes, EVI2A, EVI2B, and OMGP, are embedded within intron 27b of NF1. However, the function of these genes remains unclear. EVI2A and EVI2B encode for putative transmembrane proteins. Mouse homologs are associated with viral insertions involved in leukemia in mice. Mouse Evi2b has been identified as a direct target gene of C/EBPα, a transcription factor critical for myeloid differentiation. Also possible is that these genes are related to the leukemia observed in patients with NF1. These genes might act as modifiers of NF1 phenotypic variations. Therefore, we investigated the EVI2B gene in leukemia and NF1 tumors. We analyzed DNA from 10, 20, and 3 patients with NF1, leukemia, and NF1-leukemia, respectively, and six NF1 tumor tissues. DNA sequencing analysis was used to identify the viral integration sequence, and the protein amounts and EVI2B gene expression were analyzed by flow cytometry and quantitative real-time PCR techniques. The EVI2B gene expression was increased in cutaneous neurofibroma compared with the control both at the level of protein and mRNA. However, its expression in plexiform neurofibroma was decreased significantly at protein level and increased at mRNA level compare to control. Moreover, integration of 455 bases near the 3' end of the exon was detected. When this integrated sequence was blasted into the NCBI retroviral genome database, an 87% match with the HIV-1 virus envelope gene was obtained. These preliminary results show that EVI2B might be important in NF1 tumorigenesis and leukemia.© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.