Harrer, Dennis Christoph and Herrmann, Markus and Vogelhuber, Martin and Geis, Sebastian and Mahr, Daniel and Niethard, Maya and Keil, Felix and Napodano, Gerardo and Herr, Wolfgang and Gruber, Matthias (2025) Case Report: Nirogacestat therapy induces rapid response in a patient with refractory, life-threatening desmoid tumor. FRONTIERS IN ONCOLOGY, 15: 1714475. ISSN 2234-943X,
Full text not available from this repository. (Request a copy)Abstract
Background Desmoid tumor (DT) is a rare soft tissue neoplasm characterized by locally aggressive infiltration into adjacent tissues with few established treatment regimens. So far, the evidence-based therapeutic arsenal for DT has comprised surgery, locoregional therapy, tyrosine kinase inhibitor treatment, and chemotherapy. The gamma-secretase inhibitor nirogacestat was approved by the FDA in 2023 and, in 2025, received European authorization as the first and only agent for treatment of progressive DT requiring systemic therapy predicated on positive results from an international phase 3 clinical trial.Methods Single case study and review of the literature.Case presentation We report on a 29-year-old patient with a recurrent DT located below the right mastoid process with extensive infiltration into cervical tissue and compression of the right internal jugular vein. Following early relapse to surgery, the patient sequentially failed treatment with pegylated liposomal doxorubicin (PLD), sorafenib, and a combination of doxorubicin and dacarbazine. Against the backdrop of life-threatening circumstances due to pending infiltration of the right carotid artery, the patient was subjected to nirogacestat treatment as part of a compassionate use program. Upon four months of nirogacestat treatment, MRI-imaging revealed a sizable regression of the DT, substantially decreasing the danger of carotid artery infiltration. Currently, the patient continues nirogacestat treatment, and no severe side effects were observed.Conclusion Albeit rarely lethal in general, DT can exert life-threatening danger by local infiltration into vital tissue, such as blood vessels. The presented case highlights the novel gamma-secretase inhibitor nirogacestat as a highly effective therapy preventing infiltration of the right carotid artery by a remarkably refractory DT.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GAMMA-SECRETASE INHIBITOR; FIBROMATOSIS; CHEMOTHERAPY; PF-03084014; desmoid; tumor; nirogacestat; therapy; sarcoma |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Unfallchirurgie Medicine > Lehrstuhl für Innere Medizin III (Hämatologie und Internistische Onkologie) Medicine > Lehrstuhl für Pathologie Medicine > Lehrstuhl für Röntgendiagnostik Medicine > Zentren des Universitätsklinikums Regensburg > Zentrum für Plastische-, Hand- und Wiederherstellungschirurgie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 12 May 2026 08:13 |
| Last Modified: | 12 May 2026 08:13 |
| URI: | https://pred.uni-regensburg.de/id/eprint/65801 |
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