Detection of Gene Fusions in Soft Tissue Sarcoma Using Next-Generation Sequencing.
Gene fusions found in one-third of soft tissue sarcomas, all high-grade tumors
Detection of Gene Fusions in Soft Tissue Sarcoma Using Next-Generation Sequencing.
Soft tissue sarcomas (soft tissue sarcomas) exhibit profound molecular heterogeneity.
We performed next-generation sequencing (NGS; FusionPlex Sarcoma v2, Archer™) and bioinformatic analysis (STAR v.2.7, Arriba) on formalin-fixed paraffin-embedded (formalin-fixed paraffin-embedded) core needle biopsy specimens.
Specifically, we identified an SGSH-PRKCA fusion in MFS (thigh), a LINC01133-OGA fusion in MPNST (thorax), and a concurrent JAZF1-MYH7B (chr7:27995037 intronic-chr20:33563203 exon/splice-site, out-of-frame but preserving myosin domains) with a PRKCA-associated intergenic rearrangement (chr1, retaining C1/kinase domains) in UPS (upper back).
Notably, the SGSH-PRKCA and JAZF1-MYH7B pairs have not been previously described in the literature for these soft tissue sarcomas subtypes.
Our analysis suggests that broad genomic profiling may provide complementary molecular information in diagnostically challenging cases managed at specialised sarcoma centres, particularly when morphology and immunohistochemistry are insufficient.
In the present series, however, the detected rearrangements did not alter systemic treatment, and the data do not support claims of prognostic, predictive, or therapeutic actionability.