Desmoid tumours, also known as aggressive fibromatosis are noncancerous tumourous growths or cytologically bland fibrous neoplasms originating from the musculoaponeurotic structures throughout the body. These tumours are usually noticed in the form of firm, painless lump or swelling and occur in the arms, legs, chest, neck, or abdomen. The term desmoid, coined by Muller in 1838, is derived from the Greek word ‘desmos’, which means ‘tendon like’ owing to its appearance.
While some of these desmoid tumours are slow-growing ones and do not require immediate treatment, others grow very quickly in size and need to be treated with surgery, radiation therapy, chemotherapy or other drugs. Although these desmoid tumours are not deemed cancerous in nature as they do not spread to other parts of the body but they are fast-growing and can sometimes grow into nearby structures ultimately leading to fatal conditions.
Even though they are benign or sporadic in nature, the exact cause of desmoid tumour is still not known. But just like cancer, these tumors occur when a connective tissue cell develops changes or mutation in its DNA sequence known as beta catenin. The changes tell the connective tissue cell to multiply rapidly without dying, and banding up together to create a mass of cells (tumor) that can invade and destroy healthy body tissue.
In some cases, desmoid tumors are caused by a genetic condition called familial adenomatous polyposis (FAP). Additionally, people with the mutations caused due to FAP are prone to having hundreds of polyps in their intestines which could often develop into colon cancers.
Certain factors that increase the risk of desmoid tumours include:
Age: Desmoid tumors are more commonly noticed in younger adults in their 20s and 30s and rarely in children and older people.
Genetic Condition: People diagnosed with familial adenomatous polyposis (FAP) have an aggravated risk of desmoid tumors.
Injury: In a small number of cases, desmoid tumors may develop in people who've recently had an injury or a surgery.
Pregnancy: Although in rare cases, a desmoid tumor may develop during or soon after pregnancy due to high levels of estrogen in the body.
Desmoid tumours mainly occur in the tissues which are easy to move and are elastic in nature. Due to their location, they are usually hard to find and hence discovered quite later in stage when they are already big in size and have pushed to the nearby tissues.
Since the primary signs basically depend on the size, location and extent of spread of the tumour, many people experience the symptoms differently. The common signs and symptoms include:
- Swelling or lump that is painless
- Pain or soreness (when the growing tumour compresses a muscle or a nerve)
- Loss of function in the affected area (such as your legs, feet, arms or hands)
- Cramping, nausea and pain in the abdomen (when tumour causes obstruction in the bowel area)
Diagnosis And Treatment
On noticing the above-mentioned signs and symptoms, do consult a doctor right away to avoid complications, the doctor usually does a thorough physical check-up to understand the signs and symptoms, acknowledges the patients past medical history and conducts the following diagnostics:
- Imaging techniques like CT scan and MRI scan
- Biopsy to check if the tissue has suddenly become cancerous
Since there is very little knowledge about desmoid tumours, there is currently no exact cure. However, specialized doctors diagnose the situation to provide the best possible treatment so that the person has a normal life. This includes:
- Monitoring the growth of the tumour
- Radiation therapy