Comparative analysis of RNA expression identifies effective targeted drug in myoepithelial carcinoma

Abstract Myoepithelial carcinoma is an ultra-rare pediatric solid tumor with no targeted treatments. Clinical implementation of tumor RNA sequencing (RNA-Seq) for identifying therapeutic targets is underexplored in pediatric cancer. We previously published the Comparative Analysis of RNA Expression...

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Main Authors: Yvonne A. Vasquez, Lauren Sanders, Holly C. Beale, A. Geoffrey Lyle, Ellen T. Kephart, Katrina Learned, Jennifer Peralez, Amy Li, Min Huang, Kimberly A. Pyke-Grimm, Serena Y. Tan, Sofie R. Salama, David Haussler, Isabel Bjork, Olena M. Vaske, Sheri L. Spunt
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Precision Oncology
Online Access:https://doi.org/10.1038/s41698-025-00918-5
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Summary:Abstract Myoepithelial carcinoma is an ultra-rare pediatric solid tumor with no targeted treatments. Clinical implementation of tumor RNA sequencing (RNA-Seq) for identifying therapeutic targets is underexplored in pediatric cancer. We previously published the Comparative Analysis of RNA Expression (CARE), a framework for incorporating RNA-Seq-derived gene expression into the clinic for difficult-to-treat pediatric cancers. Here, we discuss a 4-year-old male diagnosed with myoepithelial carcinoma who was treated at Stanford Medicine Children’s Health. A metastatic lung nodule from the patient underwent standard-of-care tumor DNA profiling and CARE analysis, wherein the patient’s tumor RNA-Seq profile was compared to over 11,000 uniformly analyzed tumor profiles from public data repositories. DNA profiling yielded no actionable mutations. CARE identified overexpression biomarkers and nominated a treatment that produced a durable clinical response. These findings underscore the utility of data sharing and concurrent analysis of large genomic datasets for clinical benefit, particularly for rare cancers with unknown biological drivers.
ISSN:2397-768X