Targeted RNA sequencing: A routine ancillary technique in the diagnosis of bone and soft tissue neoplasms

Abstract

The past decade has witnessed remarkable progress in delineating the molecular pathogenesis of many mesenchymal neoplasms. This, in large part, is attributable to the application of next-generation sequencing. As these techniques decrease in cost, and increasingly support the use of routine clinical specimens-such as formalin-fixed paraffin-embedded tissue and cytology samples-they are beginning to be routinely implemented in diagnostic pathology laboratories. The breadth of testing possible by next-generation sequencing makes this a useful adjunct for pathologists, particularly with the emergence of targeted therapies. The intent of this article is to share our experience, over 2 years, as an early adopter of targeted RNA sequencing as an ancillary diagnostic technique for fusion gene detection in bone and soft tissue neoplasms.

Keywords: RNA-Seq; fusion; next-generation sequencing; sarcoma.