Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive tumors, accounting for around 5% of all soft tissue sarcomas. A better understanding of the pathogenesis of these tumors and the development of effective treatments are needed. In this context, established tumor cell lines can be very informative, as they may be used for in-depth molecular analyses and improvement of treatment strategies. Here, we present the genomic and transcriptomic profiling analysis of a MPNST cell line (BL1391) that was spontaneously established in our laboratory from a primary tumor that had not been exposed to genotoxic treatment. This cell line shows peculiar genetic features, such as a large marker chromosome composed of high-copy number amplifications of regions from chromosomes 1 and 11 with an embedded neocentromere. Moreover, the transcriptome profiling revealed the presence of several fusion transcripts involving the CACHD1, TNMA4, MDM4, and YAP1 genes, all of which map to the amplified regions of the marker. BL1391 could be a useful tool to study genomic amplifications and neocentromere seeding in MPNSTs and to develop new therapeutic strategies.

恶性外周神经鞘瘤 (MPNST) 是侵袭性肿瘤，约占所有软组织肉瘤的 5%。需要更好地了解这些肿瘤的发病机制并开发有效的治疗方法。在这种情况下，已建立的肿瘤细胞系可以提供非常丰富的信息，因为它们可用于深入的分子分析和治疗策略的改进。在这里，我们介绍了 MPNST 细胞系 (BL1391) 的基因组和转录组分析分析，该细胞系是在我们的实验室中自发建立的，来自未接受基因毒性治疗的原发性肿瘤。该细胞系显示出特殊的遗传特征，例如由来自染色体 1 和 11 的区域的高拷贝数扩增和嵌入的新着丝粒组成的大型标记染色体。而且，CACHD1、TNMA4、MDM4和YAP1基因，所有这些基因都映射到标记的扩增区域。BL1391 可能是研究 MPNST 中基因组扩增和新着丝粒播种以及开发新治疗策略的有用工具。