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November 26, 2024

Manuscript: Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1

Investigators from Illumina and Labcorp medical affairs teamed up to perform the largest real-world characterization of advanced non-small cell lung cancer using the TruSight® Oncology 500 (TSO500) assay to date. In our recently published manuscript in Frontiers, we assessed the spectrum of current FDA therapy-associated and clinical trial-associated genomic variants, along with known and novel patterns of co-mutations and co-occurrence with biomarkers predictive of immunotherapy response. We retrospectively analyzed clinical TSO 500 testing data from 7,606 NSCLC  biopsy specimens submitted for testing during standard clinical care. Our data provides further characterization of NSCLC at the genomic and immune checkpoint inhibitor response biomarker level and highlights the clinical utility of broad coverage CGP testing in detecting both known and novel facets of NSCLC to inform treatment decision-making. 

Molecular Tumor Board: 38-year-old female with follicular thyroid cancer and NRAS Q61R alteration

In our latest molecular tumor board, our Medical Affairs team conducted an in-depth review of a case of follicular thyroid cancer with an NRAS mutation. Our team delved into the critical role of molecular profiling to identify the major oncogenic mechanisms driving thyroid carcinogenesis and emphasized the importance of thorough pathological and imaging evaluations for an accurate diagnosis of thyroid cancer.