Gene expression analysis of desmoid tumors in desmoid mouse model. Mus musculus strain:C57BL/6N

Desmoid tumors are known as locally invasive fibromatoses associated with mutations in beta-catenin (CTNNB1). Desmoid tumors do not metastasize, but the high recurrence rate after surgical resection requires the identification of therapeutic target molecules or signaling pathways. In this project, we developed a novel genetically-engineered mouse model of desmoid tumors by expressing a constitutively active form of beta-catenin in fibroblasts. To verify the role of the TGF-beta pathway in desmoid formation, we also introduced Smad4 knockout (KO) into our model. In this project, we performed RNA-seq to examine gene expression in desmoid tumors developed in Smad4-wild-type and knockout mouse models.

硬纤维瘤（desmoid tumor）被认为是与β-连环蛋白（beta-catenin，CTNNB1）突变相关的局部侵袭性纤维瘤病。硬纤维瘤不发生远处转移，但手术切除后复发率居高不下，因此亟需鉴定治疗靶分子或信号通路。本研究通过在成纤维细胞中表达组成型激活形式的β-连环蛋白，构建了一种新型硬纤维瘤基因工程小鼠模型。为验证转化生长因子-β（TGF-β）信号通路在硬纤维瘤形成中的作用，本研究还在该模型中引入了Smad4基因敲除（KO）体系。本研究通过RNA测序（RNA-seq），检测了Smad4野生型及基因敲除小鼠模型中形成的硬纤维瘤的基因表达情况。