Integrative Analysis of Transcriptome Variation in Uterine Carcinosarcoma and Comparison to Sarcoma and Endometrial Carcinoma

Large-scale cancer genomics has made a huge impact onto cancer research. It has allowed the characterization of tumor types in an unprecedented depth. More recent studies target the joint analysis of multiple tumor types to gain insight into similarities and differences on a molecular level. Here we present an analysis of Uterine Carcinosarcoma. The histological similarities to sarcomas and carcinomas warrants an in-depth analysis to Uterine Endometrial Carcinoma as well as Sarcomas and we have used data from The Cancer Genome Atlas to understand transcriptome similarities and differences between these tumor types. We have performed a differential transcriptome analysis of Uterine Carinosarcoma to Uterine samples from GTEx to find genes with tumor specific splicing or expression patterns, which may not only be of interest for a deeper mechanistic understanding of the development and progression of Uterine Carcinosarcoma, but may also be potential tumor markers. Similarities and differences to Sarcomas and Endometrial Carcinomas present new opportunities for the development of new and targeted drug therapies. Finally we have also studied genetic determinants of gene expression and splicing changes and identified germline variants that explain expression and splicing differences between individuals. This analysis demonstrates the opportunities of integrative comparative analysis between multiple tumor types.