Desmoid tumour

Descripción

A desmoid tumour is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Affected individuals typically develop a single tumour, although some have multiple tumours. Desmoid tumours most often develop when people are in their 30s or 40s, although they can occur anytime between adolescence and late adulthood.

Tumours that form in the abdomen or abdominal wall are called abdominal desmoid tumours, those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumours, and tumours found in other regions of the body are called extra-abdominal desmoid tumours. Extra-abdominal tumours occur most often in the shoulders, upper arms, and upper legs.

Desmoid tumours are fibrous, much like scar tissue. They are generally noncancerous (benign) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. Desmoid tumours can recur, even after they are removed. In about 20 percent of cases, the tumours shrink or disappear with minimal or no treatment (spontaneously regress).

Desmoid tumours may not cause any signs or symptoms. When they do cause symptoms, the most common one is pain. The pain is often due to the tumour pressing against nearby organs, tissues, or blood vessels. Other signs and symptoms are often caused by growth of the tumour into the surrounding tissue, and they can vary based on the size and location of the tumour. Intra-abdominal desmoid tumours can block the bowel, causing constipation. Extra-abdominal desmoid tumours can restrict the movement of affected joints, making it difficult to move the arms or legs.

Desmoid tumours can also occur in combination with other conditions. Desmoid tumours are found in 10 to 30 percent of people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumours in addition to abnormal growths (called polyps) and cancerous tumours in the colon. Desmoid tumours that are not part of FAP are described as sporadic.

Patrones de herencia

The source lists the following possible inheritance patterns: Autosomal dominant+1 affected parent; Not inherited. More than one pattern can apply in different cases.

Related genes

• APC

• CTNNB1

Otros nombres

Aggressive fibromatosis

Desmoid fibromatosis

Desmoid-type fibromatosis

Familial infiltrative fibromatosis

Hereditary desmoid disease

Musculoaponeurotic fibromatosis