Targeted Therapy in a Young Adult With a Novel Epithelioid Tumor Driven by a PRRC2B-ALK Fusion
This case report describes an 18-year-old woman with an unusual epithelioid tumor of the omentum with a novel PRRC2B-ALK fusion. Although the atypical pathologic features raised significant diagnostic challenges, expression of CD30 on tumor cells and detection of an ALK rearrangement provided critical information for selecting targeted therapy in a patient not suitable for surgical resection. Despite an initially promising therapeutic response, the patient died. The efficacy of treatment was confirmed by the lack of viable tumor cells at autopsy. This case highlights the role of timely targeted therapy in patients with rare tumors and novel actionable molecular targets.
Submitted March 15, 2021; final revision received May 3, 2021; accepted for publication May 3, 2021.
Author contributions: Data analysis and interpretation: Schieffer, Koo, Cottrell, Mardis. Manuscript writing – original draft: Gupta. Manuscript writing – review and editing: Gupta, Liu, Schieffer, Koo, Cottrell, Roberts, Yeager.
Disclosures: The authors have disclosed that they have not received any financial consideration from any person or organization to support the preparation, analysis, results, or discussion of this article.
Funding: This research was supported by the Diagnostic Immunology Laboratory, Nationwide Children’s Hospital. Sequencing, data production, and analysis were supported by funding from Nationwide Foundation Pediatric Innovation Fund.
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