Comparative analysis of RNA expression identifies effective targeted drug in myoepithelial carcinoma
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.
Authors
- Lauren Sanders (ORCID: https://orcid.org/0000-0001-9393-0861)
- Isabel Bjork
- David Haussler
- Holly C. Beale (ORCID: https://orcid.org/0000-0003-4091-538X)
- Jennifer Peralez
- Ellen Kephart (ORCID: https://orcid.org/0000-0002-3117-4439)
- Katrina Learned (ORCID: https://orcid.org/0000-0003-3112-7525)
- Serena Y. Tan (ORCID: https://orcid.org/0000-0001-5409-0695)
- Yvonne Vasquez (ORCID: https://orcid.org/0000-0001-6113-5222)
- Sofie R. Salama (ORCID: https://orcid.org/0000-0001-6999-7193)
- Sheri L. Spunt (ORCID: https://orcid.org/0000-0002-1669-2676)
- Amy Li (ORCID: https://orcid.org/0000-0001-5413-3771)
- A. Geoffrey Lyle (ORCID: https://orcid.org/0000-0002-3435-526X)
- Kimberly A. Pyke‐Grimm (ORCID: https://orcid.org/0000-0001-6396-7460)
- Olena M. Vaske (ORCID: https://orcid.org/0000-0002-1677-417X)
- Min Huang (ORCID: https://orcid.org/0000-0002-2844-5680)
Institutions
- University of California, Santa Cruz (US)
- Stanford Medicine (US)
- Stanford University (US)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-05-16
- DOI
- https://doi.org/10.1038/s41698-025-00918-5
- Citations
- 1
- Primary Topic
- Salivary Gland Tumors Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 2.01
Funders
- Howard Hughes Medical Institute
- American Association for Cancer Research
- St. Baldrick's Foundation
- School of Medicine, Stanford University