Molecular diagnosis of soft tissue neoplasia: clinical applications and recent advances

Abstract

Sarcomas are rare and heterogeneous neoplasms of mesenchymal tissues with diverse morphologies and clinical behavior. In the last few years, the discovery of specific genetic aberrations in these tumors has allowed better classification and understanding of mechanisms driving their pathogenesis. While the majority of sarcomas are still treated by traditional modalities, molecular markers driving the pathogenesis have paved the way for more accurate diagnosis and opportunity to explore other therapeutic strategies. This review discusses the available molecular tools in sarcoma diagnostics and highlight some of the biological significance of the recent discoveries and their clinical applications.

Keywords: FISH; RT-PCR; fusion genes; gene network; next-generation sequencing; soft tissue sarcoma; therapeutics.