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.
© 2018 Wiley Periodicals, Inc.