The desmoid tumor is one of the rare types of benign (noncancerous) tumors that develop in connective tissue, which connects bones, muscles, ligaments, and organs. The most common places in the body for desmoid tumors are the abdomen, arms, and legs. However, desmoid tumors are also known as aggressive fibromatosis, desmoid-type fibromatosis, or deep fibromatosis.
Desmoid tumors are caused by genetic mutations that cause the connective tissue cells to grow abnormally and form a mass. Several factors may increase your risk of developing desmoid tumors, including:
Young adult age. Desmoid tumor tends to occur in people in their 20s and 30s, and it is rare in children and older adults.
Female sex. Desmoid tumor is more common in women than in men, especially in women who are pregnant or have high estrogen levels.
Familial adenomatous polyposis (FAP). FAP is a genetic condition that causes many polyps (abnormal growths) in the colon and increases the risk of colon cancer. People with FAP have a higher chance of developing desmoid tumor, especially in the abdomen.
Injury or surgery. Some desmoid tumors may develop after an injury or surgery that affects the connective tissue.
In some cases, desmoid tumors do not cause symptoms until they become large enough to affect nearby structures or organs. Symptoms of desmoid tumors include:
A lump or swelling that can be felt or seen under the skin, usually in the arms, legs, or abdomen.
Pain, soreness, or tingling sensation from the tumor pressing on nerves, blood vessels, or other tissues.
Difficulty moving the affected body part or reduced range of motion.
Nausea, vomiting, cramping, or bloating from the tumor affecting the digestive system, especially in the abdomen.
Other symptoms related to the organ or system that is involved, such as urinary problems, breathing difficulties, or vision changes.
Desmoid tumors can be diagnosed by asking the patient about their medical history, symptoms, and risk factors, and by performing a physical examination to see if there are any lumps or signs of inflammation. To confirm the diagnosis and determine the extent of the tumor, the doctor may also order some tests, including:
Imaging tests, such as ultrasound, X-ray, computed tomography (CT) scan, magnetic resonance imaging (MRI) scan, or positron emission tomography (PET) scan, to visualize the tumor and its surrounding tissues and organs.
Biopsy, which is a procedure to remove a small sample of the tumor tissue and examine it under a microscope to confirm the diagnosis and rule out other conditions.
Genetic testing, which is a blood test to check for any mutations in the genes that are associated with desmoid tumor or FAP.
Several factors play a role in the treatment of desmoid tumors, including the patient's location, size, growth rate, symptoms, and general health, as well as the doctor's preferences and experience. Treatment for desmoid tumors aims to control tumor growth and minimize complications. Treatment options for desmoid tumors include:
To ensure complete removal and reduce the risk of recurrence, surgery involves removing some normal tissue and the tumor. When a desmoid tumor causes symptoms or affects vital organs, surgery is usually the first course of action. Surgery may not be an option or advisable in some cases, for example if the tumor is located in an area that is difficult or sensitive, or if the patient has multiple tumors in addition to FAP.
To kill or shrink tumor cells, radiation therapy uses high-energy rays or particles. Besides reducing tumor size or preventing recurrence, radiation therapy may be used as an alternative to surgery for inoperable or recurrent tumors. There may be some side effects associated with radiation therapy, including skin irritation, fatigue, nausea, or hair loss.
In order to kill or stop tumor cells from growing, chemotherapy is used. Desmoid tumors that are large, fast-growing, or resistant to other treatments may benefit from chemotherapy alone or in combination with other treatments. Some side effects of chemotherapy include hair loss, nausea, vomiting, diarrhea, and low blood counts.
Using hormone therapy, drugs are used to lower or block the levels of hormones that may stimulate tumor cell growth, such as estrogen. For desmoid tumors that are hormone-sensitive or recurrent, hormone therapy can be used alone or in combination with other treatments. Side effects of hormone therapy include weight gain, mood swings, hot flashes, and irregularities during menstruation.
Using targeted therapy, drugs are used to target specific molecules or pathways involved in tumor growth and survival. Desmoid tumors with genetic mutations or resistance to other treatments may be treated using targeted therapy alone or in combination with other therapies. There may be some side effects associated with targeted therapy, such as rash, diarrhea, fatigue, or liver damage.
Drugs that stimulate or enhance the immune system are used in immunotherapy in order to fight tumor cells. In cases of recurrent or resistant desmoid tumors, immunotherapy may be used alone or in combination with other treatment options. In addition to fever, chills, fatigue, and allergic reactions, immunotherapy may cause some side effects.
When there are signs of tumor progression or complications, watchful waiting involves close monitoring of the tumor without active treatment. If the desmoid tumor is small, slow-growing, asymptomatic, or located in an area that is difficult to treat, watchful waiting may be an option. The status of the tumor may be checked regularly with imaging tests, blood tests, or follow-up visits during watchful waiting.
There is no sure way to prevent desmoid tumor, but some steps that may help reduce the risk or detect it early are:
Knowing the family history and genetic status of FAP, and getting regular screening and counseling if there is a risk of inheriting or having the condition.
Avoiding or limiting the exposure to factors that may increase the estrogen levels, such as hormone replacement therapy, oral contraceptives, or soy products, especially for women who have a history or risk of desmoid tumor.
Seeking medical attention promptly if there is any lump, swelling, pain, or other unusual symptoms that may indicate a desmoid tumor or another condition.
Following the doctor's advice and recommendations regarding the treatment and follow-up of desmoid tumor, and reporting any changes or concerns that may arise.
In the abdomen, arms, and legs, desmoid tumors are the most common type of benign tumors that grow in connective tissue. The location and size of a desmoid tumor determine whether it causes symptoms or causes pain, swelling, or other problems. Physical examination, imaging tests, biopsy, and genetic testing are all used to diagnose desmoid tumors. The treatment of desmoid tumor depends on several factors, including surgery, radiation therapy, chemotherapy, hormone therapy, targeted therapy, immunotherapy, or watchful waiting. It is impossible to prevent desmoid tumor, but if one knows the family history and genetic status of FAP, avoids or limits estrogen exposure, seeks medical attention promptly, and follows the doctor's advice and recommendations, one may reduce the risk or detect it early.
