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Desmoid Tumor - Pictures, Symptoms, Treatment, Causes

Updated on January 3, 2014


What is Desmoid Tumor?

Desmoid tumor is a rare neoplasm that usually arises in the cells called fibroblasts. This type of tumor has the ability to invade other surrounding tissues and adjacent organs although it generally cannot metastasize or seldom spread to distant parts of the body. Desmoid tumor is also referred to as aggressive fibromatosis and commonly develops in the arms, legs and the abdomen.

Desmoid tumor is a soft tissue sarcoma that grows slowly and often steadily and is scientifically called musculoaponeurotic fibromatosis. Although Desmoid tumor has no metastatic potential, the tumor can cause significant problems when it reaches the nearby tissues and may also become fatal. It can also be idle for some time and have periods of stability including regression. Desmoid tumor is found to be twice as common in women as in men especially in women after childbirth. It occurs in people between the age of 10 to 40 years old although it can affect children younger than 10 years of age and in adults older than 40 years of age.

Desmoids tumor can also imitate breast cancer in mammography, breast ultrasound and in physical examination although the incidence of Desmoid tumor in breast seldom happens.

Fibroblasts are involved in the process of Desmoid tumor. It is a common type of cell that is usually composed in the connective tissue and can be generally found in the entire part of the body. The fibroblasts are responsible for maintaining the structural framework of numerous tissues through its function of secreting collagen proteins. Fibroblasts also serve to protect the vital organs and also take an important part in the process of wound healing.


Desmoid tumors can develop in any part of the body although it is more common to develop in the shoulder girdle and in the abdominal wall.

The signs and symptoms of Desmoid tumor depend on the site of development as Desmoid tumor is basically divided into three classifications according to the area of development and such include the following:

Intraabdominal desmoids are soft tissue tumors that generally develop in the root of the mesentery.

Abdominal desmoids are superficial desmoids that develop in the abdominal wall.

Extra abdominal desmoids are also superficial desmoids that develop outside the abdominal wall and instead develop in the areas of the pelvic girdles.

A Desmoid tumor under the physical examination is usually presented with a painless and enlarging mass and is rock hard upon palpation. Painless or slightly painful lump is the usual manifestation of superficial desmoids such as that of abdominal desmoids and extra abdominal desmoids.

Intraabdominal desmoids manifests with severe pain, rectal bleeding, compression of the kidney or ureters and rupture of the intestines. However, intraabdominal desmoids remains asymptomatic until it increases in size and the infiltration causes compression of the blood vessels and other adjacent vital organs. Extra abdominal desmoids on the other hand is rather rare and usually manifest with a gradual swelling of the leg.

A Desmoid tumor can also occur in the peripheral with which the tumor is characterized as smooth, firm and movable. The initial signs of Desmoid tumor however are the growing mass or lump which can be palpable associated with the onset of pain which can be mild to moderate, numbness and tingling and a limited range of movement.


The cause of Desmoid tumor has not been established and most tumors are sporadic rather than inherited. Sporadic tumors are those that resulted from gene mutation called somatic mutations or that which occurred during the lifetime of a healthy individual.

The genes implicated in the cause of Desmoid tumor are the CTNNB1 gene and the APC gene. CTNNB1 gene is responsible for the provision of instruction in producing beta-catenin protein. The APC gene on the other hand produces a protein that is responsible for regulating the levels of beta-catenin in the cells.

Desmoid tumor in the CTNNB1 mutation resulted from the accumulation of beta-catenin which cannot be broken down and continues to function uncontrollably. A mutation in the APC gene resulted in a shortage in the certain protein that regulates the levels of beta-catenin in the cells which subsequently result to the inability of APC protein to interact with beta-catenin leading to uncontrollable growth and cell division of the cells and thus allowing the growth of Desmoid tumor.

A Desmoid tumor may also occur as part of an inherited disease known as "Gardner syndrome". The syndrome is also known as Familial colorectal polyposis and is a subtype of Familial adenomatous polyposis or FAP. The syndrome is an inherited disorder characterized by the growth of a malignant tumor in the colon and the rectum.

In some cases, Desmoid tumor also occurs in pregnant women wherein the growth of the tumor has been linked to a certain hormone that influences the growth of Desmoid tumor. The relationship however between pregnancy and Desmoid tumor is rare in incidence. A healthy individual on the other hand are also at risk for developing Desmoid tumor.


The exact cure for Desmoid tumor has not been identified while the goal of treatment is focused on freeing the patient from the tumor or obtaining a negative margin while preserving the function of the affected part of the body. It is however rather difficult to achieve a negative margin while most Desmoid tumors usually recur.

Desmoid tumor does not have the characteristic to spread to distant tissues although it can affect the adjacent tissues. While the tumor has no ability to metastasize, surgery is often the choice and initial step of treatment. The tumor can be treated with surgery, chemotherapy, radiation, hormone therapy and other medications. In some cases, chemotherapy may not be necessary as the tumor has no metastatic potential. For most cases of Desmoid tumor, a combination of surgery, radiation therapy, hormone therapy and medications are used to successfully treat the patient.

The treatment of patient with Desmoid tumor depends on the extent and location of the tumor growth including the medical history and overall health status of the patient.


The prognosis for Desmoid tumor depends on the behavior of the tumor, whether it is growing aggressively or slowly or whether it is truly benign or truly malignant. The compression of involved organ also accounts for the prognosis of the tumor.

Desmoid tumor is a non-inflammatory fibroblastic tumor and is usually benign. The tumor can be neither truly benign nor truly malignant although it can be life-threatening if the location of growth is within the vital organ which may result to organ compression. Surgical intervention can provide cure depending on the location of the growth but Desmoid tumor has the characteristic to recur. Regular follow-up with the doctor and close monitoring is therefore required to anticipate the recurrence of the tumor.


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    • migenomic profile image

      michael basham 2 years ago from san diego

      @john wallace

      Hi john, it's great to hear that you no longer have the tumor.

      I'm doing some research on my own about this rare disease and better treatments out there. My friend has a desmoid tumor in the same region you had yours.

      Wishing you the best and good health man!

    • profile image

      john wallace 2 years ago

      it is good to find out what i was diagnosed with i had it in my left hamstring which i dont have anymore and it was benign and have just passed 10 years since diagnosis and treatment