Friday, April 7, 2017

Background

  • Also known as desmoid fibromatosis, extra-abdominal desmoid fibromatosis, juvenile fibromatosis, infantile fibromatosis
  • Benign soft tissue tumor with 90% associated with a mutation in the gene, CTNNB1 (Prendergast 2022)
    • Historically thought to behave like sarcomas managed with aggresive surgery and cytotoxic therapy
    • Current management decisions are made in light of the now recognized absence of metastatic potential but with common local recurrence after treatment
    • Observation as management has been supported for selected cases
    • Untreated tumors may spontaneously shrink or stabilize (Bektas 2023)
  • Often observed as a poorly marginated trans-spatial enhancing mass in the extracranial head and neck
    • May be seen in the supraclavicular area and the masticator space
    • May be well-defined or invasive - displacing and eroding surrounding bone
  • Very rare entitiy
  • Associated with familial adenomatous polyposis, Gardner syndrome (Magid 1984)

  • Clinical trials (van Maren 2022) 

    Excellent search engine for clinical trials - "ClinicalTrials.gov" - in "condition or disease" type in "aggressive fibromatosis" https://clinicaltrials.gov/ct2/home

Radiologic Findings

  • On CT: Mild to moderate enhancement with contrast, may appear malignant, has no observable tumor matrix or calcification/ossification
  • On MR: On T1 low to intermediate intensity when compared to muscle, on T2 heterogeneous signal, on T1 post-contrast mild to moderate enhancement
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References

Prendergast K, Kryeziu S, Crago AM. The Evolving Management of Desmoid Fibromatosis. Surg Clin North Am. 2022 Aug;102(4):667-677. doi: 10.1016/j.suc.2022.05.005. PMID: 35952695.

van Maren SA, van Noesel MM, Husson O, van der Graaf WTA. Clinical trials in desmoid-type fibromatosis in children and adults: A systematic review. Pediatr Blood Cancer. 2022 Sep;69(9):e29831. doi: 10.1002/pbc.29831. Epub 2022 Jul 9. PMID: 35714333.

Bektas M, Bell T, Khan S, Tumminello B, Fernandez MM, Heyes C, Oton AB. Desmoid Tumors: A Comprehensive Review. Adv Ther. 2023 Jul 12. doi: 10.1007/s12325-023-02592-0. Epub ahead of print. PMID: 37436594.

Riedel RF, Agulnik M. Evolving strategies for management of desmoid tumor. Cancer. 2022 Aug 15;128(16):3027-3040. doi: 10.1002/cncr.34332. Epub 2022 Jun 7. PMID: 35670122; PMCID: PMC9546183.

Magid D, Fishman EK, Jones B, Hoover HC, Feinstein R, Siegelman SS. Desmoid tumors in Gardner syndrome: use of computed tomography. AJR Am J Roentgenol. 1984;142(6):1141-1145.