NORD gratefully acknowledges Raphael Pollock, MD, PhD, Professor of Surgery, Director of Surgical Oncology, Chief of Surgical Services, The Ohio State University-The James, and the Desmoid Tumor Research Foundation, for assistance in the preparation of this report.
Desmoid tumor commonly develops in the fibrous (connective) tissues of the body that connect, support, and surround other body parts and organs. The myofibroblast is the cell responsible for the desmoid tumor. A desmoid tumor can invade surrounding tissues and be difficult to control. They can develop at any body site. Superficial desmoids tend to be less aggressive than deep desmoids (abdominal, extra abdominal, mesenteric). These tumors look like dense scar tissue. They adhere to surrounding structures and organs, and are often difficult to remove. Surgery has been the traditional therapy for desmoid tumors but up to 20-30% will recur after surgery.
Desmoid tumor is called aggressive fibromatosis as it has similarities with a malignant (cancerous) tumor called fibrosarcoma. However, it is considered benign because it does not metastasize (spread) to other parts of the body.
While each child or adult may experience symptoms differently, the following are the most common symptoms of desmoid tumors. The symptoms vary greatly depending on size and location:
•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.
The cause of desmoid tumor remains unknown. 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).
In most patients, desmoid tumor occurs sporadically, meaning that it is not caused by predisposing genetic disease. People who develop desmoid tumors sporadically have no other APC gene-associated health problems. Repeated irritation or trauma to a certain body area, including surgical trauma, may increase the risk of developing desmoid tumor. Estrogen may also play a role in its development
Desmoid tumors constitute 0.03% of all tumors. The estimated incidence in the general population is 2-4 per million people per year. Desmoid tumors are observed to be more common in persons aged 10-40 years but can occur in other age groups. Desmoid tumors can commonly occur in women after childbirth. The female:male gender ratio is 2:1. In children, the gender incidence is the same.
The conclusive diagnosis of desmoid tumor requires a biopsy. Microscopic examination of the biopsy tissue confirms the diagnosis. On microscopic examination, the spindle cells of desmoid tumors appear to be myofibroblasts and are thought to be an abnormal proliferation of myofibroblasts, which normally gradually disappear during the later stages of wound healing. Additionally, immunohistochemical stains can establish the nuclear accumulation of beta-catenin, a protein that is caused by the genetic mutations usually found in desmoid tumors. Nuclear reactivity shows relatively high specificity, detected in up to 90% of desmoids, regardless of site. Finally, antibodies are often examined in desmoid tumors, including smooth muscle actin, desmin and KIT, to aid in distinguishing them from other tumors.
Depending on the extent of the tumor growth and the overall condition of the patient, the following treatment options are utilized. Surgery alone is often the only treatment needed. However, the recurrence rate of desmoid tumor is often as high as 30% and more than one surgery may be needed. The tumor tends to become more aggressive when it recurs after resection. For patients who are not appropriate candidates for surgery or have recurrences not responding to repeated surgeries, the following options may be considered:
Watchful waiting policy: Because desmoid tumors do not metastasize and can be followed closely for growth and because treatment with surgery, radiation, and/or chemotherapy can cause significant morbidity and even mortality, 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.
Chemotherapy: If surgeons cannot remove the desmoid tumor because of size or location, chemotherapy may be used to reduce tumor size. Agents include Doxorubicin (Adriamycin, Rubex), Dacarabazine (DTIC-Dome) and Carboplatin (Paraplatin).
Novel molecular-targeted therapies: Kinases are regulators of cell growth, differentiation, and motility. Because these processes are deregulated in tumors cells, a new class of drugs called receptor kinase inhibitors has been developed. Gleevec and Sorafenib are two kinase inhibitors that are useful in treating desmoid tumors.
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.
Monitoring: After surgery, MRI is used to monitor recurrence in the arms and legs. CAT scans are used to monitor intra-abdominal and chest desmoids.
Angiogenesis inhibitors: Newer substances that may be able to prevent the growth of tumors by blocking the formation of new blood vessels that feed the tumors are being currently investigated.
Chemotherapy agents: Researchers are also testing several chemotherapy drugs, or combination of drugs, that could prove to be most effective in treating desmoid tumors to avoid radical management via surgery.
Mutations in the gene for beta-catenin have been found to commonly occur in desmoid tumor. Mutation analysis may soon be used to predict the risk of recurrence and to aid in the design of individual therapies.
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