Reference Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Ref Type Journal Article
PMID (32762028)
Authors Takahashi T, Prensner JR, Robson CD, Janeway KA, Weigel BJ
Title Safety and efficacy of gamma-secretase inhibitor nirogacestat (PF-03084014) in desmoid tumor: Report of four pediatric/young adult cases.
Journal Pediatric blood & cancer
Vol 67
Issue 10
Date 2020 10
URL
Abstract Text 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.

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC T1556Nfs*3 desmoid tumor predicted - sensitive Celecoxib + Nirogacestat Case Reports/Case Series Actionable In a clinical case study, addition of Nirogacestat (PF-03084014) to Celecoxib treatment resulted in a reduction in tumor size and stable disease that was ongoing for at least 17 months in a pediatric patient with a desmoid tumor harboring APC T1556Nfs*3 (PMID: 32762028). 32762028
APC R1450* APC LOH desmoid tumor predicted - sensitive Nirogacestat Case Reports/Case Series Actionable In a clinical case study, Nirogacestat (PF-03084014) resulted in tumor regression in a pediatric patient with a desmoid tumor harboring APC R1450* and loss of the APC heterozygosity who stayed on treatment for 6 months (PMID: 32762028). 32762028
APC inact mut desmoid tumor predicted - sensitive Nirogacestat Case Reports/Case Series Actionable In a clinical case study, Nirogacestat (PF-03084014) resulted in stable disease lasting 9 months in a patient with a patient with a desmoid tumor harboring an inactivating APC mutation (PMID: 32762028). 32762028