Cancer Res 2019 Jul 13;79(13):3163-3168. Epub 2019 Jun 13.
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.
Oncogenic fusions involving , and with various partners are diagnostic of infantile fibrosarcoma and secretory carcinoma yet also occur in lower frequencies across many types of malignancies. Recently, targeted small molecular inhibitor therapy has been shown to induce a durable response in a high percentage of patients with fusion-positive cancers, which has made the detection of fusions critical. Several techniques for fusion diagnosis exist, including pan-Trk IHC, FISH, reverse transcription PCR, DNA-based next-generation sequencing (NGS), and RNA-based NGS. Each of these assays has unique features, advantages, and limitations, and familiarity with these assays is critical to appropriately screen for fusions. Here, we review the details of each existing methodology.