Who Do Desmoid Tumours Affect?
Desmoid tumours tend to occur in younger adults in their 20s and 30s. This tumour is rare in children and older people. They are more common in females.
What Causes a Desmoid Tumour?
The cause of desmoid tumours is unknown. Some people with a history of desmoid tumours have a change in a gene called adenomatosis polyposis coli (APC). This alters the amount of a protein called beta-catenin in the cell and this in turn promotes tumour growth. APC mutations are associated with colon cancers. In some tumours elevated beta-catenin is seen despite no abnormality in the APC gene.
Symptoms of a Desmoid Tumour
The symptoms of desmoid tumours vary depending on the location of the tumours.
The following are some of the most common indications and symptoms:
- A mass or area of swelling
- Pain
- Loss of function in the affected area
How is a Desmoid Tumours Diagnosed?
Most patients present to their GP with a lump and are referred for specialist assessment. This includes:
- History and examination
- Imaging Investigations (Ultrasound / CT / MRI)
- Biopsy
Imaging Tests
An MRI is the best investigation to look at the size of the tumour, its location and extent. A CT or Ultrasound may also be performed.
Biopsy & Pathology Testing
To check the type of tumour a biopsy may be performed. A small sample of the tumour is removed by a needle, often inserted using Ultrasound or CT guidance. An expert, called a pathologist, will study the cells from the biopsy under a microscope to confirm the diagnosis.
Once a final diagnosis has been made your doctor will discuss with you the treatment options available based on your particular case.
Treatment of Desmoid Tumours
Treatment of Desmoids depends on the area of the body that is affected, the size of the tumour and how fast it is growing. Desmoid tumours have unpredictable behaviour and can either grow, stabilise (stop growing) or regress (Shrink). In the past, most desmoid tumours were treated with surgery. Now, a “wait and watch” approach or medical therapy is the recommended treatment.
Non-Surgical Treatments for Desmoid Tumours
Wait and Watch
Given the unpredictable nature of desmoid tumours patients are kept under regular observation with clinical reviews and regular scans (normally MRI). If the desmoid enlarges medical treatment can be considered.
Medical therapy
Your doctor may recommend treatment if your desmoid tumour is growing quickly and surgery isn't an option.
- Anti-inflammatory drugs – Nonsteroidal anti-inflammatory drugs (NSAIDs) can reduce symptoms (pain and swelling) and help the tumour shrink.
- Hormone Treatment
– Tamoxifen is an anti-oestrogen drug that has been shown to cause desmoid tumours to get smaller.
- Chemotherapy
– Anti-cancer drugs have been used to treat desmoid tumours successfully. They are not used as standard treatment as they have significant side effects and are used in select cases.
Radiation Therapy
Radiotherapy uses high energy radiation beams to destroy tumour cells. It is used to improve symptoms and reduce the size of the desmoid tumour. Radiotherapy has long term side effects including a risk of cancer, it is only used in select cases.
Surgical Treatment for Desmoid Tumours
Surgery had been the traditional method of treating desmoid tumours. Recently there has been a move away from this approach, as an operation may can cause functional problems (the part of the body the tumour was removed from may not work properly) and there is a high chance of the desmoid tumour re-occurring. Surgery is still used for symptomatic tumours that fail medical management and may be excised without harming local structures.
