Identification of a novel gene fusion ( BMX-ARHGAP ) in gastric cardia adenocarcinoma
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RESEARCH
Open Access
Identification of a novel gene fusion (BMX-ARHGAP) in gastric cardia adenocarcinoma Xiaofeng Xu1, Lifang Xu2, Feng Gao3, Jianjiang Wang3*, Jinsong Ye1, Mingxian Zhou1, Yunling Zhu1 and Lan Tao1
Abstract Background: Gastric cardia adenocarcinoma (GCA) is one of the major causes of cancer related mortality worldwide. We aim to provide new understanding in the pathogenesis of GCA through investigations on gene expression alterations. Methods: We preformed RNA-Seq for one pair of GCA and matched non-tumor tissues. Differentially expressed genes (DEGs) and fusion genes were acquired. PCR and gel analysis in additional 14 pairs of samples were performed to validate the chimeric transcripts. Results: 1590 up-regulated and 709 down-regulated genes were detected. Functional analysis revealed that these DEGs were significantly overrepresented in gene ontology items of cell cycle, tumor invasion and proliferation. Moreover, we firstly discovered 3 fusion genes in GCA, including BMX-ARHGAP, LRP5- LITAF and CBX3-C15orf57. The chimeric transcript BMX-ARHGAP was validated and recurrently occurred in 4/15 independent tumor tissues. Conclusions: Our results may provide new understanding of GCA and biomarkers for further therapeutic studies. Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/ vs/13000_2014_218 Keywords: Gastric cardia adenocarcinoma (GCA), RNA-Seq, Gene fusion
Background Gastric cancer is the fourth most common malignant cancer and the second major cause of cancer-related death [1,2]. It is widely believed that gastric cancer is a heterogeneous disease with multiple environmental and genetic etiologies. To date, aberrant gene expression and epigenetic alterations were identified to be involved in the pathogenesis of gastric cancer. These abnormal changes could lead to perturbations in normal cellular homeostasis and neoplastic transformation of the gastric mucosa [3]. In particular, disruption in a number of regulatory signal pathways could create a permissive environment for carcinogenesis, invasiveness and metastasis. Gastric adenocarcinoma comprises 95% of the malignant gastric tumors [4]. It is classified as proximal (originating in the cardia) and distal (originating distal to the cardia). Different from distal adenocarcinomas, incidence of gastric * Correspondence: [email protected] 3 Department of General Surgery, People? s hospital, Jingjiang 214500, Jiangsu, China Full list of author information is available at the end of the article
cardia adenocarcinoma (GCA) has increased significantly recently [5-7]. In addition, compared with distal adenocarcinomas, GCA seems to be more aggressive with deeper gastric wall invasion and worse prognosis [5,8]. Therefore, it is necessary to spend more efforts on the investigations for uncovering the pathogenesis of GCA. With the rapid development of next generation sequencing (NGS), many cancer-related genes have been identified. NGS technology makes it possible to comprehensively i
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