A pilot study evaluating the use of sirolimus in children and young adults with desmoid-type fibromatosis

Aaron R. Weiss, Sarah Dry, Clara Maygar, Anya Cutler, Christine W. Lary, Carmen Khoo, Jillian E. Fergione, Melanie M. Hounchell, Kathleen Glick, Meghen Browning, Sun Ha Choo, Douglas S. Hawkins, Joanne Lagmay, Michelle Manalang, Stephen X. Skapek, Brenda Weigel, Stephanie Verwys, Noah Federman

Research output: Contribution to journalArticlepeer-review


Deregulation of the mTOR pathway may play an important role in tumor biology when the APC/β-catenin pathway is disrupted in desmoid-type fibromatosis (DT). A pilot study was conducted to determine whether sirolimus can block the mTOR pathway (primary aim) as well as determine whether it can safely be given in the preoperative setting, decrease tumor size/recurrence, and decrease tumor-associated pain in children and young adults (secondary aims) with DT. Nine subjects ages 5–28 years were enrolled from 2014 to 2017 across four centers. Sirolimus was feasible and was associated with a nonstatistically significant decrease in pS706K activation.

Original languageEnglish (US)
Article numbere30466
JournalPediatric Blood and Cancer
Issue number9
StatePublished - Sep 2023

Bibliographical note

Funding Information:
Aaron R. Weiss is chair of the Desmoid Tumor Research Foundation Medical Advisory Board, is on the medical advisory board for SpringWorks Therapeutics (no honoraria), and is a paid consultant for BioAtla. Noah Federman has received speaking and advisory honoraria from Bayer AG. Noah Federman receives grant support from NCI/NCATS CTSA and CIRM.

Funding Information:
Funding for this study was provided by a grant from the Desmoid Tumor Research Foundation. Partial drug supply was provided through a grant from Pfizer. We gratefully acknowledge all the patients and their families, care providers, and research personnel who participated in this study, and a special thank you to Clara Maygar for all her tremendous efforts in assisting with the biological aims of the study. Noah Federman receives support from NCI/NCATS CTSA (Grant/Award Number: UL1TR001881) and CIRM (Grant/Award Number: INFRA4‐13685).

Publisher Copyright:
© 2023 Wiley Periodicals LLC.


  • children
  • desmoid tumor
  • sirolimus
  • young adults

PubMed: MeSH publication types

  • Journal Article


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