Information on the following diseases can be found in the Related Disorders section of this report:

• None

Desmoid tumors typically affect tissue that is elastic and easily moved, a tumor may exist for a long time before being discovered, growing large and pushing aside surrounding tissue. The following are the most common symptoms of Desmoid tumors. However, each child or adult may experience symptoms differently. The symptoms of Desmoid tumors vary greatly depending on size, location, and spread of the tumor. Some of the common symptoms include the following.
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 exact cause of Desmoid tumor still remains unknown but researchers have found that Desmoid tumors may occur in patients who have a history of polyposis coli, a hereditary colon cancer syndrome. It is also common among patients who suffer repeated irritation or trauma to a certain part of the body i.e. particularly in the legs, arms, hand, head neck and other prone area with a history of repetitive trauma to these body parts.

These desmoid tumors may appear due to mutations, or changes, in a gene called "adenomatous polyposis coli" (APC). For most affected individuals, Desmoid tumors occur in a sporadic manner, meaning that they are not caused by genetic mutations. People who develop Desmoid tumors in a sporadic manner have no other health problems associated with mutations in the APC gene and have no close family members with the tumors. Mutations in the APC gene usually result in familial adenomatous polyposis (FAP). Some families with FAP develop extra-colonic symptoms

Desmoid tumors are reported to contribute to 0.03% of all cancers. When present in patients with familial polyposis of the colon, the prevalence of desmoid tumors is as high as 13%.
Desmoid tumors most commonly occur in women after childbirth and the gender ratio is 2:1 for females to men. In children however, the sex incidence is equal.
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 than in others and do occur in young children and older adults.

Gardner's Syndrome
Gardner's syndrome is inherited in an autosomal dominant manner. Typically, one parent has Gardner's syndrome. Each of their children, male and female alike, are at 50% risk of inheriting the gene for Gardner's syndrome and manifesting it.

It is a genetic disorder characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The countless polyps in the colon predispose to the development of colon cancer.
Gardner's syndrome is now known to be caused by mutation in the APC gene located in chromosome 5q21 (band q21 on chromosome 5. This is the same gene as is mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer.
New genetic and molecular information has caused some genetic disorders to be split into multiple entities while other genetic disorders merge into one condition. After existing for most of the second half of the 20th century, Gardner's syndrome is no longer identifiable as its own entity but insdtead has been merged into familial adenomatous polyposis (FAP) and is now considered simply a phenotypic variant of FAP.

Dermatofibrosarcoma.
Dermatofibrosarcoma is a cutaneous malignancy that arises from the dermis and invades deeper subcutaneous tissue such as fat tissue, fascia, muscle and bone.
Currently, the cause of dermatofibrosarcoma is unknown. Laboratory studies have shown that chromosomal aberrations may contribute to the pathogenesis of dermatofibrosarcoma; however, no evidence of hereditary or familial predisposition exists. In 10-20% of patients with this tumor, trauma at the site seems to be incriminated. Surgical and old burn scars and sites of vaccinations have all been reported as sites of dermatofibrosarcoma.
Dermatofibrosarcoma is known to be a slow growing tumor and because of the slow progression, the diagnosis is often delayed and it may start as a small asymptomatic papule, which is likely ignored. The tumor may gradually enlarge into a lumpy nodule, or it may evolve into an atrophic and/or sclerotic plaque
Fibrosarcoma
Fibrosarcomas are malignant tumors derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells
A fibrosarcoma is a malignant (cancerous) tumor that originates in the connective fibrous tissue found at the ends of bones of the arm or legs, and then spreads to other surrounding soft tissues. Soft tissues include fat, muscles tendons (bands of fiber that connect bones to muscle) nerves, joint tissue, blood vessels and other fibrous tissue. It most commonly affects either a lower leg or arm.
There are generally two forms of this disease:
Infantile or congenital fibrosarcoma: this type of tumor is the most common soft tissue sarcoma found in children less than one year of age. It presents as a rapidly growing mass at birth or shortly after. This form of fibrosarcoma is usually slow-growing, and tends to be more benign than fibrosarcoma in older children, which behaves more like the type found in adults.

Adult form fibrosarcoma: The adult form of this disease can occur in older children and in adolescents, roughly between the ages of 10 and 15. It is more aggressive than the infantile form and generally involves more complex treatment.

The exact cause of fibrosarcoma and other soft tissue tumors is not entirely understood, however, studies have indicated that genetic alterations may play a role. Researchers have studied a small number of families that contain several members from one generation who have developed soft tissue sarcomas. In addition, limited studies have shown a possible link between soft tissue sarcomas and the development of other types of cancer. A chromosomal rearrangement has been found in some fibrosarcomas.

Diagnosis
To make an accurate diagnosis in addition to a complete medical and physical examination, the most conclusive diagnostic procedure for Desmoid tumor is a biopsy, a tissue sample from the tumor taken through a simple surgical procedure. A biopsy is the most important diagnostic test for this tumor. Electron microscopy may be performed in addition to the biopsy for obtaining further clarity and confirmation for the diagnosis.
On electron microscopic examination, the spindle cells of Desmoid tumors appear to be myofibroblasts. This finding is thought to represent an abnormal proliferation of myofibroblasts, which normally disappear gradually during the later stages of wound healing.


Treatment
Depending on the extent of the tumor growth and the overall condition of the patient the following treatment options are utilized.

Surgery - Because Desmoid tumor rarely metastasizes, often surgery alone is the only treatment and hence surgical removal of the tumor by a surgeon is the primary treatment; the recurrence rate Desmoid tumor is often as high as 70% and hence more than one surgery is often needed. The tumor tends to become more aggressive when it recurs after resection.

For patients who refuse surgery or are not appropriate candidates for surgery the following options may be considered:


· Anti-inflammatory medication - given to help manage pain and swelling. In some cases these medications will cause the tumor to slowly shrink. Non-steroidal anti-inflammatory drugs (NSAIDs) and drugs such as Imatinib are being used by physicians to treat Desmoid tumors. The drug Imatinib has been shown to effectively treat Desmoid tumors that cannot be safely be removed via surgical means.
· Radiation therapy - Radiation therapy may be used as a treatment of recurrent disease or as primary therapy to avoid mutilating surgical resection by using high-energy rays (radiation) from a specialized machine to damage or kill cancer cells and shrink tumors; used alone or in conjunction with surgery.

Hormone therapy - Because some hormones seem to increase the growth of Desmoid tumors, anti-hormonal medications such as anti-estrogens and prostaglandin inhibitors may also be used in the pharmacologic therapy.

Chemotherapy - If surgeons are unable to remove the tumor because of the size or location as in the case of recurrent extra-abdominal desmoid tumors in which surgery is contraindicated researchers are testing some types of chemotherapy to reduce the tumor .

Some of the agents known to inhibit cell growth proliferation are Doxorubicin (Adriamycin, Rubex), Dacarabazine (DTIC-Dome) and Carboplatin (Paraplatin)
After surgery, MRI may be useful for monitoring recurrence
Positron emission tomography Scans (PET) is also growing in popularity for monitoring the recurrence of Desmoid tumors as it is a noninvasive imaging technique that creates three-dimensional images of the heart, brain and other organs of the body.

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.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

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JOURNAL ARTICLES
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Rai AT, Nguyen TP, Hogg JP, Gabriele FJ. Aggressive fibromatosis of the neck in a patient with Gardner's syndrome. Neuroradiology. Aug 2001; 43(8):650-2.
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Lindor NM, Dozois R, Nelson H, Wolff B, King J, Boardman L, Wilson M, Greene MH, Karnes W, Mesa R, Welch T, Edmonson J, Limburg P. Desmoid tumors in familial adenomatous polyposis: a pilot project evaluating efficacy of treatment with pirfenidone. Am J Gastroenterol. 2003 Aug; 98(8):1868-74

FROM THE INTERNET
Children's Hospital Boston: Center for Head and Neck Tumors. Desmoid tumor. March 5 2008. Available at http://www.childrenshospital.org/az/Site703/mainpageS703P0.html

National Cancer Institute: General information about Soft Tissue tumors in Children. March 5, 2008. Available at http://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient/page1/print

Oncolink. Patient information on Childhood Soft Tissue tumors. March 5, 2008. Available at http://oncolink.upenn.edu/types/article.cfm?c=10&s=54&ss=432&id=9088

Robert A Schwartz, MD, MPH: Desmoid Tumor. March 5, 2008. Available at http://www.emedicine.com/derm/topic778.htm

Mayo Clinic for Medical Education and Research. Desmoid tumor. March 5, 2008. Available at http://www.mayoclinic.org/desmoid-tumors/treatment.html

Health article: Hereditary desmoid tumor. March 5 2008. Available at http://www.healthline.com/galecontent/hereditary-desmoid-disease