SALT LAKE CITY (GenomeWeb) – A research team based in British Columbia has developed a sarcoma gene fusion test using NanoString’s nCounter platform, which they believe can serve as a first-line clinical diagnostic, replacing multiple individual assays that make up the current standard of care for these cancers.
The group published a report on its validation of the test in the Journal of Molecular Diagnostics earlier this month, and lead author Tony Ng discussed the project further at a NanoString-sponsored workshop at the annual meeting of the Association for Molecular Pathology here this week.
Ng explained at the meeting that diagnosis of sarcomas is challenging because the larger designation includes multiple overlapping morphologies and phenotypes. And genetic diagnosis and subtyping has increasingly been shown to frequently amend or revise purely histological diagnoses, with important implications for treatment and other clinical decision-making.
Genetically, sarcomas are classified into two main groups: one containing cancers that are karyotypically complex and lack recurrent genetic alterations, and another characterized by tumors with specific lesions — chromosomal translocations and resulting fusion genes — that define specific subgroups.
But while tools have become available for genomic diagnosis of sarcomas based on the identification of these alterations, they