Systemic therapy for pediatric desmoid tumors has been challenged by a lack of high-quality clinical evidence and potential adverse effects. The gamma-secretase inhibitor nirogacestat has shown promising efficacy in adults. We report four cases of pediatric and young adult desmoid tumor patients (three with familial adenomatous polyposis [FAP] syndrome) who received nirogacestat on compassionate use. After a median of 13.5 months (range 6-18), three had durable benefit: a complete response (Case 1); a partial response (Case 2); stable disease (Case 3). The fourth had disease progression after a partial response. No patient experienced grade 3 or 4 adverse events.
Bibliographical noteFunding Information:
We wish to express our gratitude to SpringWorks Therapeutics for offering compassionate use of nirogacestat to the patients. We gratefully acknowledge the patients and families who participated in this work and permitted this manuscript to be published.
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- desmoid tumor
PubMed: MeSH publication types
- Case Reports
- Journal Article