The team performed anchored multiplex PCR-based next-generation sequencing on 26 genes linked to sarcomas, comparing the method to standard diagnostic tools.
Genome and RNA sequencing led to recurrent EGFR and BRAF rearrangements in cryptogenic congenital mesoblastic nephroma and infantile fibrosarcoma soft tumors.
In a pan-cancer analysis, Lynch syndrome genes were mutated more often than anticipated in tumors with high or intermediate levels of microsatellite instability.
At the AACR annual meeting, researchers highlighted genomics- and proteomics-informed research aimed at establishing more effective, targeted immunotherapies.
Validation results presented at the Association for Molecular Pathology meeting demonstrate that the test can be implemented clinically, replacing existing FISH and PCR assays.
