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

Title: Comparative analysis of RNA expression identifies effective targeted drug in myoepithelial carcinoma
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
Source: npj Precision Oncology, Vol 9, Iss 1, Pp 1-8 (2025)
Publisher Information: Nature Portfolio
Publication Year: 2025
Collection: Directory of Open Access Journals: DOAJ Articles
Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens; RC254-282
Description: 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.
Document Type: article in journal/newspaper
Language: English
Relation: https://doi.org/10.1038/s41698-025-00918-5; https://doaj.org/toc/2397-768X; https://doaj.org/article/0e1291c4928143a7ab8932852bda69d6
DOI: 10.1038/s41698-025-00918-5
Availability: https://doi.org/10.1038/s41698-025-00918-5; https://doaj.org/article/0e1291c4928143a7ab8932852bda69d6
Accession Number: edsbas.D89B5014
Database: BASE