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by Dr. C.H. Weaver M.D. Updated 3/2022

About Desmoid Tumors

Desmoid tumors commonly develop in the myofibroblast cells that make up thee fibrous (connective) tissues of the body that connect, support, and surround other body parts and organs. Desmoid tumors are considered benign because they do not metastasize (spread) to other parts of the body. A desmoid tumor can however invade surrounding tissues and be difficult to control. They can develop anywhere in the body and have different names including aggressive fibromatosis, deep fibromatosis, musculoaponeurotic fibromatosis, and nonmetastasizing fibrosarcoma.

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Signs & Symptoms of Desmoid Tumors

The symptoms caused by desmoid tumors vary greatly and depend on their size and location. The following are the most common symptoms of desmoid tumors.

  • A painless swelling or lump
  • Pain or soreness caused by compressed nerves or muscles.
  • Pain and obstruction of the bowels
  • Limping or other difficulty using the legs, feet, arms or hands or other affected part of the body.

Causes of Desmoid Tumors

The cause of desmoid tumors is unknown. Desmoid tumors are observed to be more common in women and in persons aged 10-40 years but can occur in other age groups. Desmoid tumors may present sporadically or as a manifestation of hereditary familial adenomatous polyposis (FAP). FAP is a familial cancer predisposition syndrome which, if left untreated, results in colorectal cancer. Up to 32% of FAP patients will develop desmoid tumors in their lifetime. These desmoid tumors are the result of mutations, or changes, in the adenomatous polyposis coli gene (APC). Repeated irritation or trauma to a certain body area, including surgical trauma, may also increase the risk of developing desmoid tumor.

Gardner’s syndrome is caused by mutation in the APC gene located in chromosome 5q21 and is recognized as a phenotypic variant of FAP. Typically, one parent has Gardner’s syndrome. Each of their male or female children are at 50% risk of inheriting the APC gene and manifesting Gardner’s syndrome.

Diagnosis

The conclusive diagnosis of desmoid tumor requires a biopsy. Microscopic examination of the biopsy tissue confirms the diagnosis and antibodies are often examined in desmoid tumors, including smooth muscle actin, desmin and KIT, to aid in distinguishing them from other tumors and direct therapy.

Standard Therapies

Surgery has been the traditional therapy for desmoid tumors but up to 20-30% will recur after surgery. Because desmoid tumors do not metastasize and can be followed closely for growth patients with asymptomatic or minimally symptomatic disease that has stable appearance on screening modalities may appropriately be treated with a period of watchful waiting.

  • Anti-inflammatory drugs may cause the tumor to slowly shrink. Non-steroidal anti-inflammatory drugs (NSAIDs) and drugs such as Imatinib are used to treat desmoid tumors.
  • Hormone therapy: Some hormones seem to increase the growth of desmoid tumors, so anti-hormonal medications such as anti-estrogens and prostaglandin inhibitors may also be used therapeutically.

Precision Cancer Medicines known as “kinase inhibitors” are effective.

 Gleevec® (imatinib mesylate) and Nexavar (sorafenib tosylate) are precision medicines that target pathways within a cell that are involved in cellular growth and replication. Sorafenib is a targeted treatment, given in pill form, that interferes with the growth of cancer cells and new blood vessels that tumors need to grow. It is approved by the U.S. Food and Drug

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Results from a randomized clinical trial for patients with desmoid tumors or aggressive fibromatosis (DT/DF) show that the Nexavar delayed cancer recurrence.  

The phase 3 double-blind clinical trial enrolled 87 patients with DT/DF who had disease that could not be removed surgically, that had grown, or that was causing symptoms and met specific criteria. Patients were randomly assigned to one of two treatment arms: one group received Nexavar (400 mg/day), and the other received a matched placebo. Patients in both groups continued treatment until their tumors grew or they experienced adverse events from treatment. 

The primary endpoint was progression-free survival. The trial was designed to target an improvement in median progression-free survival from six months for placebo to 15 months for sorafenib. Based on an interim analysis of the first 75 patients enrolled, the observed improvement in progression-free survival exceeded the trial-design target.

Patients who received sorafenib were more likely to experience drug-related adverse events than those who received placebo. However, these side effects—which included fatigue, rash, gastrointestinal complications, infection, and hypertension—were generally not severe.

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Gleevec

To evaluate the safety and effectiveness of Gleevec in the treatment of desmoid tumors, researchers conducted a phase II clinical trial among 19 patients.  Ninety percent of the patients had previously been treated with surgery, and most had also received a nonsurgical treatment. A response rate of 16% was reported.

  • Chemotherapy: If surgeons cannot remove the desmoid tumor because of size or location, chemotherapy may be used but it is not as effective as kinase inhibitors.
  • Radiation therapy as a treatment for recurrent disease or as primary therapy to avoid mutilating surgical resection uses high-energy rays (radiation) from a specialized machine to damage or kill cancer cells and shrink tumors.

References:

  1. Litchman, C, ed. Desmoid Tumors. 1st ed. New York, NY: Springer Publishing; 2012:221.

  2. Thoene JG, Coker NP, eds. Physician’s Guide to Rare Diseases. Montvale, NJ: Dowden Publishing Company Inc.; 1995:70-71.

  3. James WD, Berger TG, ElstonDMeds. Andrews’ Diseases of The Skin: Clinical Dermatology. 11th ed. Philadelphia, PA: W.B. Saunders Company; 2011:959.

  4. National Cancer Institute. Childhood Soft Tissue Sarcoma (PDQ®): Treatment. Health Professional Version. Available at . (Accessed March 22, 2006).
  5. Heinrich MC, McArthur GA, Demetri GD et al. Clinical and Molecular Studies of the Effect of Imatinib on Advanced Aggressive Fibromatosis (Desmoid Tumor). Journal of Clinical Oncology. 2006;24:1195-1203.