The Role of Next-Generation Sequencing in Sarcomas: Evolution From Light Microscope to Molecular Microscope

Abstract

Purpose of review: Sarcomas are rare, heterogeneous group of soft tissue and bone tumors. Precise diagnosis of specific subtypes is challenging using conventional methods. Herein, we review the role of next-generation sequencing (NGS) technology that is used for rapid sequencing of DNA and RNA.

Recent findings: Recent sarcoma specific studies recommend that molecular genetic testing should be added at diagnosis for appropriate clinical management in addition to diagnosis by expert pathologists. NGS has already been used to identify potentially actionable mutations, copy number alterations, and gene fusions. Rationally, choosing a drug based on an individual patient profile aka: "precision oncology" has been so far limited to few case reports in sarcomas. As we improve our ability to deliver personalized medicine using all modalities including conventional therapy, more patients may eventually benefit. As the cost and capacity of NGS outpace Moore's law, so does the probability of success.

Keywords: Bone sarcoma; Driver aberration; Fusion; Mutation; Next-generation sequencing; Precision oncology; Sarcoma; Soft tissue sarcoma; Targeted therapy.