Malignant peripheral nerve sheath tumor (MPNST) is a highly aggressive and recurrent soft tissue sarcoma. It most commonly occurs secondary to neurofibromatosis type I, and it has a 5-year survival rate of only 8–13%. To better study the tumor heterogeneity of MPNST and to develop diverse treatment options, more tumor-derived cell lines are needed to obtain richer biological information. Here, we established a primary cell line of relapsed MPNST RsNF cells derived from a patient diagnosed with NF1 and detected the presence of NF1 mutations and SUZ12 somatic mutations through whole-exome sequencing(WES). Through tumor molecular marker targeted sequencing and single-cell transcriptome sequencing, it was found that chromosome 7 copy number variation (CNV) was gained in this cell line, and ZNF804B, EGFR, etc., were overexpressed on chromosome 7. Therefore, RsNF cells can be used as a useful tool in NF1-associated MPNST genomic amplification studies and to develop new therapeutic strategies.

恶性周围神经鞘瘤（MPNST）是一种高度侵袭性和复发性软组织肉瘤。它最常继发于 I 型神经纤维瘤病，5 年生存率仅为 8-13%。为了更好地研究MPNST的肿瘤异质性并开发多样化的治疗方案，需要更多的肿瘤来源的细胞系以获得更丰富的生物学信息。在这里，我们建立了源自诊断为 NF1 的患者的复发 MPNST RsNF 细胞的原代细胞系，并通过全外显子组测序 (WES)检测了NF1突变和SUZ12体细胞突变的存在。通过肿瘤分子标志物靶向测序和单细胞转录组测序，发现该细胞系存在7号染色体拷贝数变异（CNV），且ZNF804B、EGFR等在7号染色体上过表达。因此，RsNF细胞可用作NF1相关 MPNST 基因组扩增研究和开发新治疗策略的有用工具。