Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma
Recent impactful studies emphasize the growing importance of genome sequencing and identification of molecular targets. Current sarcoma subtype identification is based on a process called immunohistochemistry. This method of identification is often challenging even for experienced pathologists and involves identifying sarcoma subtypes using cell morphology and the presence of specific proteins expressed by tumor cells. Using genome sequencing and identifying molecular targets offers the potential to identify subtypes more precisely and easily, ultimately improving treatment.
This study illustrates how a technique known as whole-genome and whole-transcriptome sequencing (WGTS) can aid in tumor classification and patient treatment. In “Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma,” the investigators used WGTS in routine diagnostics of 200 soft-tissue and bone tumors. Based on the WGTS results 7% (13/197) of the diagnoses were reclassified. In malignant tumors, the investigators found variants that were relevant to treatment in 15% of cases. This study indicates that WGTS can help clarify tumor classification and help identify molecular targets for treatment for a significant number of sarcoma patients.