Department of Oncology and Children's Research Center, University Children's Hospital, Steinwiesstrasse 32, 8032, Zurich, Switzerland.
Experimental Infectious Diseases and Cancer Research, Children's Research Center, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland.
Sci Rep. 2022 Jun 23;12(1):10671. doi: 10.1038/s41598-022-12659-7.
As the second most common pediatric bone and soft tissue tumor, Ewing sarcoma (ES) is an aggressive disease with a pathognomonic chromosomal translocation t(11;22) resulting in expression of EWS-FLI1, an "undruggable" fusion protein acting as transcriptional modulator. EWS-FLI1 rewires the protein expression in cancer cells by activating and repressing a multitude of genes. The role and contribution of most repressed genes remains unknown to date. To address this, we established a CRISPR activation system in clonal SKNMC cell lines and interrogated a custom focused library covering 871 genes repressed by EWS-FLI1. Among the hits several members of the TGFβ pathway were identified, where PEG10 emerged as prime candidate due to its strong antiproliferative effect. Mechanistic investigations revealed that PEG10 overexpression caused cellular dropout via induction of cell death. Furthermore, non-canonical TGFβ pathways such as RAF/MEK/ERK, MKK/JNK, MKK/P38, known to lead to apoptosis or autophagy, were highly activated upon PEG10 overexpression. Our study sheds new light onto the contribution of TGFβ signalling pathway repression to ES tumorigenesis and suggest that its re-activation might constitute a novel therapeutic strategy.
作为第二大常见的儿科骨与软组织肿瘤,尤因肉瘤(Ewing sarcoma,ES)是一种侵袭性疾病,具有特征性的染色体易位 t(11;22),导致 EWS-FLI1 的表达,这是一种“不可成药”的融合蛋白,作为转录调节剂。EWS-FLI1 通过激活和抑制众多基因来重新编程癌细胞中的蛋白质表达。迄今为止,大多数受抑制基因的作用和贡献仍不清楚。为了解决这个问题,我们在克隆的 SKNMC 细胞系中建立了一个 CRISPR 激活系统,并对一个包含 871 个被 EWS-FLI1 抑制的基因的定制焦点文库进行了质询。在这些命中的基因中,鉴定出了几个 TGFβ 通路的成员,其中 PEG10 由于其强烈的抗增殖作用而成为主要候选物。机制研究表明,PEG10 的过表达通过诱导细胞死亡导致细胞脱落。此外,非典型 TGFβ 通路,如 RAF/MEK/ERK、MKK/JNK、MKK/P38,已知会导致细胞凋亡或自噬,在 PEG10 过表达时被高度激活。我们的研究揭示了 TGFβ 信号通路抑制对 ES 肿瘤发生的贡献,并表明其重新激活可能构成一种新的治疗策略。