L.G. is a 71-year-old retired accountant who began experiencing symptoms associated with lung cancer, including shortness of breath and persistent cough. Concerned about his symptoms, he sought medical help from his primary care physician, who noted a large pleural effusion and pleural nodularity by imaging. A pleural fluid sample was aspirated, and a cell block was made; however, it was deemed insufficient for molecular studies due to low cellularity. Histology and immunohistochemistry analysis of the cell block were consistent with lung cancer (non-small cell carcinoma). A ctDNA test detected a TP53 variant at low variant allele frequencies, indicating a low tumor fraction and reducing the likelihood of identifying actionable mutations.
B.B., a 62-year-old piano teacher and avid hiker, began experiencing symptoms associated with lung cancer, including sudden shortness of breath and a persistent cough. Concerned, she sought medical help from a pulmonologist referred by her primary care physician. She was found to have a large pleural effusion, and her pulmonologist aspirated 40 mL of fluid, which was sent to pathology. A cell block was prepared, and histology and immunohistochemistry analyses of the cell block confirmed non-small cell lung cancer (NSCLC) with 15% tumor content, making it adequate for molecular testing.
Familiar with the benefits of targeted therapy, her pulmonologist ordered genomic testing with a large next-generation sequencing (NGS) panel to increase the likelihood of identifying an actionable variant. However, after 12 days, the NGS testing was reported as failed due to quantity not sufficient (QNS).