Safety and efficacy of gamma-secretase inhibitor nirogacestat (PF-03084014) in desmoid tumor: Report of four pediatric/young adult cases

Pediatr Blood Cancer. 2020 Oct;67(10):e28636. doi: 10.1002/pbc.28636. Epub 2020 Aug 6.


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.

Keywords: desmoid tumor; nirogacestat; pediatric.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amyloid Precursor Protein Secretases / antagonists & inhibitors*
  • Child, Preschool
  • Female
  • Fibromatosis, Aggressive / drug therapy*
  • Fibromatosis, Aggressive / pathology
  • Humans
  • Male
  • Prognosis
  • Safety
  • Tetrahydronaphthalenes / therapeutic use*
  • Valine / analogs & derivatives*
  • Valine / therapeutic use
  • Young Adult


  • Tetrahydronaphthalenes
  • Amyloid Precursor Protein Secretases
  • Valine
  • nirogacestat