Detection of NTRK Fusions: Merits and Limitations of Current Diagnostic Platforms

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 p...

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Bibliographic Details
Published inCancer research (Chicago, Ill.) Vol. 79; no. 13; pp. 3163 - 3168
Main Authors Solomon, James P, Hechtman, Jaclyn F
Format Journal Article
LanguageEnglish
Published United States 01.07.2019
Subjects
Biomarkers, Tumor - genetics
Gene Rearrangement
Humans
Neoplasms - diagnosis
Neoplasms - genetics
Oncogene Proteins, Fusion - genetics
Receptor, trkA - genetics
Receptors, Nerve Growth Factor - genetics
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Summary: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.
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ISSN:0008-5472
1538-7445
DOI:10.1158/0008-5472.CAN-19-0372