Rahrmann Eric P, Moriarity Branden S, Otto George M, Watson Adrienne L, Choi Kwangmin, Collins Margaret H, Wallace Margaret, Webber Beau R, Forster Colleen L, Rizzardi Anthony E, Schmechel Stephen C, Ratner Nancy, Largaespada David A
Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota; Center for Genome Engineering, University of Minnesota, Minneapolis, Minnesota; Brain Tumor Program, University of Minnesota, Minneapolis, Minnesota.
Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota; Center for Genome Engineering, University of Minnesota, Minneapolis, Minnesota; Brain Tumor Program, University of Minnesota, Minneapolis, Minnesota.
Am J Pathol. 2014 Jul;184(7):2082-98. doi: 10.1016/j.ajpath.2014.04.006. Epub 2014 May 13.
Malignant peripheral nerve sheath tumors (MPNSTs) are genetically diverse, aggressive sarcomas that occur sporadically or in association with neurofibromatosis type 1 syndrome. Reduced TP53 gene expression and amplification/overexpression of the epidermal growth factor receptor (EGFR) gene occur in MPNST formation. We focused on determining the cooperativity between reduced TP53 expression and EGFR overexpression for Schwann cell transformation in vitro (immortalized human Schwann cells) and MPNST formation in vivo (transgenic mice). Human gene copy number alteration data, microarray expression data, and TMA analysis indicate that TP53 haploinsufficiency and increased EGFR expression co-occur in human MPNST samples. Concurrent modulation of EGFR and TP53 expression in HSC1λ cells significantly increased proliferation and anchorage-independent growth in vitro. Transgenic mice heterozygous for a Trp53-null allele and overexpressing EGFR in Schwann cells had a significant increase in neurofibroma and grade 3 PNST (MPNST) formation compared with single transgenic controls. Histological analysis of tumors identified a significant increase in pAkt expression in grade 3 PNSTs compared with neurofibromas. Array comparative genome hybridization analysis of grade 3 PNSTs identified recurrent focal regions of chromosomal gains with significant enrichment in genes involved in extracellular signal-regulated kinase 5 signaling. Collectively, altered p53 expression cooperates with overexpression of EGFR in Schwann cells to enhance in vitro oncogenic properties and tumorigenesis and progression in vivo.
恶性外周神经鞘瘤(MPNSTs)是一种基因多样的侵袭性肉瘤,可散发性发生或与1型神经纤维瘤病综合征相关。TP53基因表达降低以及表皮生长因子受体(EGFR)基因的扩增/过表达在MPNST形成过程中出现。我们着重研究在体外(永生化人雪旺细胞)雪旺细胞转化以及体内(转基因小鼠)MPNST形成过程中,TP53表达降低与EGFR过表达之间的协同作用。人类基因拷贝数改变数据、微阵列表达数据以及组织芯片分析表明,TP53单倍体不足和EGFR表达增加在人类MPNST样本中共同出现。在HSC1λ细胞中同时调节EGFR和TP53表达可显著增加体外增殖和非锚定依赖性生长。与单转基因对照相比,携带Trp53无效等位基因杂合且在雪旺细胞中过表达EGFR的转基因小鼠,神经纤维瘤和3级PNST(MPNST)形成显著增加。肿瘤的组织学分析表明,与神经纤维瘤相比,3级PNST中pAkt表达显著增加。3级PNST的阵列比较基因组杂交分析确定了染色体增益的复发性局灶区域,这些区域在参与细胞外信号调节激酶5信号传导的基因中显著富集。总体而言,p53表达改变与雪旺细胞中EGFR过表达协同作用,增强体外致癌特性以及体内肿瘤发生和进展。
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