Desmoid-type fibromatosis (DF) is sometimes called Desmoid Tumour or aggressive fibromatosis. It is a rare type of benign (non-cancerous) tumour. DF develops from fibroblasts. These are a type of cell that provide cell support for the body’s tissues. DF can occur anywhere in the body but it is mostly found in the arms, legs and abdomen (tummy). DF can affect anyone but it mostly affects young adults, especially women.
It is difficult to predict how DF will develop. Sometimes they can be slow growing and they have also been known to get smaller without any treatment.
There is a small number of people with DF who have a condition called familial adenomatous polyposis (FAP) and Gardner Syndrome. This is a rare condition that can run in families. People affected by FAP may be diagnosed with DF following routine tests and scans to investigate the progression of their condition, such as a colonoscopy. Usually their DF will be in the abdomen and treatment will be different to those who do not have FAP.
Types of diagnostic scans
Uses x-radiation to take images of dense tissues inside the body such as bones or tumours.
A scan that uses soundwaves to create images from within the body.
The Computer Tomography (CT) scan takes a number of x-rays to make a 3D images of an affected area.
This test uses a thin, flexible tube called a colonoscope to look inside the colon.
Magnetic Resonance Imaging (MRI) uses magnets to create an image of the tissues inside the body.
Examination of a tissue sample by a pathologist under a microscope to identify disease. The tissue sample can be taken during a biopsy or from a tumour removed during surgery.
Who should treat me?
DF patients are treated under an oncology team. Oncology is the branch of medicine that treats cancer. DF is not a cancer but oncologists (doctors who specialise in the treatment of cancer) have the experience and skills to look after DF patients. Your treatment plan will need to be managed by a team of experts from a wide range of health care professions called a multidisciplinary team (MDT). The MDTs with the experience to treat DF are usually only found in sarcoma centres. Your MDT will include your clinical nurse specialist, surgeon and oncologists with experience of treating DF.
Treatment for DF depends on the area of the body that is affected, the size of the tumour and how fast it is growing. It also depends on how close your tumour is to important structures in your body like nerves, a major blood vessel or an organ. Your doctor should explain your treatment options to you and why your MDT has made their decisions. DF tumours can be unpredictable, they can stabilise (stop growing) and even regress (shrink). No one knows why this happens. If a DF tumour stabilises or shrinks then you may not need treatment.
In the past, treatment for DF has relied on surgery. Now you are more likely be under a Watchful Waiting programme.
In 2015 a consensus paper was written with the involvement of doctors and nurses from across Europe who treat DF patients. Previously different countries had treated DF patients in different ways and there is currently little research into what are the best treatment options. The group found that it is best to have understanding of the growth of the tumour before deciding if any treatment is needed. This can be achieved by reviewing a patient with DF under a Watchful Waiting programme.
Types of treatment
Watchful Waiting is usually the first approach to treat people who are newly diagnosed with DF. This is sometimes known as a ‘watch and wait’ policy, ‘active monitoring’ or ‘active observation’. Watchful Waiting ensures effective treatment can be held in reserve for when you need it. You will be constantly monitored to ensure treatment is given at the earliest appropriate time.
People diagnosed with DF are usually on a watch and wait programme for 1 -2 years. You may be on a watch and wait programme for a shorter or longer time depending on your individual circumstances. If your condition stabilises or regresses watch and wait will continue. If your condition progresses then other treatment options will be considered for you.
If you are on a watch and wait programme you may be worried that your DF is not being treated immediately. However, there are advantages to watch and wait programme:
- Treatment options for DF come with side effects. Although these treatments can be very helpful, it is important to use them only if you are having symptoms that affect your quality of life or your tumour has grown greatly.
- Some treatments cannot be given more than once, for example, radiotherapy. Radiotherapy can be helpful to improve your symptoms but it may not shrink the tumour.
- It is possible that having repeated surgery may cause the tumour to be more aggressive in its recurrence and growth.
If you are having symptoms that are affecting your quality of life you should be offered symptom management. Ask your GP for help. They may ask your local pain management team or symptom control team for further advice. You can also speak to your clinical nurse specialist if you are worried about any symptoms you are experiencing.
If you are on a Watchful Waiting Programme you will be monitored regularly by your specialist team. Usually every three months. At each appointment you will be checked for signs that you may need further treatment. This will be done by:
- Giving you a chance to discuss your symptoms
- A clinical examination - looking at and feeling the tumour
- You may also have a scan, such as an ultrasound or MRI
The reasons you may need further treatment could include:
- You are experiencing symptoms that are affecting your quality of life. For example, increasing pain.
- Your tumour is growing quickly
- Your tumour has grown and is getting close to important structures in the body like nerves, a major blood vessel or an organ.
The treatment you receive will be based on your individual circumstances. Your MDT will discuss your case and decide on what treatment is best for you. You may receive any of the following treatments depending on your specific circumstances.
During pregnancy the rate of growth of the DF may change, sometimes the tumour can grow and then may settle down after pregnancy. If you are considering getting pregnant please speak to your specialist doctor or clinical nurse specialist first.
It is sometimes possible for your surgeon to remove the tumour. Many patients are keen to have their tumour removed. In the past, surgery used to include taking the tumour out along with a wide area of normal tissue too. This is known as taking a wide margin. Now it is thought that removing a large amount of tissue around the tumour does not always make a difference to whether it will regrow, so surgeons now aim to just remove the tumour.
Sometimes after surgery for DF, the part of the body where the tumour was removed does not work properly or you are left with cosmetic changes to your physical appearance. Surgery also does not guarantee the tumour will not return. This is why, for most DF patients, surgery will only be offered after a period of Watchful Waiting and after their case has been discussed by an MDT.
Chemotherapy is a treatment that uses drugs to destroy tumour cells. Chemotherapy can help switch off the tumour and make it dormant. This may help with symptoms such as pain. The tumour may get smaller with chemotherapy treatment or stop growing. Chemotherapy can cause side effects so the decision to use it needs to be balanced with how your symptoms are affecting you and how the tumour is growing.
Tyrosine Kinase Inhibitors
Tyrosine Kinase Inhibitors (TKIs) are a newer type of treatment called a targeted therapy. They work by blocking growth signals inside the tumour cells. The main drug used to treat DF this way is called Imatinib. Special funding is needed to make imatinib available for DF patients which is not always approved. You can ask your clinical nurse specialist for more information on this type of treatment.
Nonsteroidal anti-inflammatory drugs (NSAIDs) can be used to treat DF. They have an impact on the nature of the tumour and can reduce any pain or swelling you may be experiencing.
Hormones are substances produced naturally in the body that control the activity of cells and organs. Hormonal therapies use drugs to interfere with the way hormones are made or how they work in the body. Hormone therapy can be used to treat some DF patients as it may make the tumour smaller or stop the tumour growing. The main drug used is Tamoxifen, a hormonal therapy drug that is used to treat breast cancer. This is often used with high dose anti-inflammatory drugs.
Radiotherapy uses high-energy radiation beams to destroy tumour cells. It can be used after surgery or as a treatment on its own. It is used to improve symptoms and to try and get the tumour to switch itself off and get smaller. DF patients are usually fit and healthy and radiotherapy can have significant long term side effects, so the decision to use radiotherapy needs to be balanced with how significant the symptoms are. It is rarely used to treat children and younger adults.
Isolated Limb Perfusion
Isolated Limb Perfusion (ILP) is a treatment where chemotherapy drugs are given directly into an arm or leg to treat a tumour. It is used as an alternative to surgery to treat DF in the arm or leg where surgery will cause damage to the arm or leg or make it not work properly. Not all specialist centres offer this treatment. If ILP is considered appropriate for your case, you might need to be referred to a specialist centre with expertise in this procedure.
After any treatment you receive, you will have regular follow up appointments. These appointments are to check your health and to check the site of your DF. They are also a good opportunity to talk to your doctor or nurse about any concerns you may have.
- A chance to discuss symptoms
- A physical examination to look for any signs of your DF returning
- You may have a scan such an ultrasound or MRI
Sometimes DF can come back after it is first treated. This is called a recurrence. Sometimes your DF can be stable for a long time and then start growing again. If you do have a recurrence or your DF starts growing again your doctors will discuss your care in an MDT meeting and consider the best treatment options for you.
Ask your clinical nurse specialist about what supportive services are available to you.
Emotional and practical support
This is care that aims to help you live as well as possible with the effects of DF. It could include social, psychological or spiritual support. It may also include dietary services, physiotherapy and occupational therapy. Your clinical nurse specialist may be able to suggest useful services to you and your GP can help you access local services in your area.
There is a UK support page on Facebook for anyone affected by DF called Desmoid United UK. This is a closed group where DF patients can share their stories and offer and receive support.
Desmoid United UK
Other sources of support
British Pain Society
Resources for people living with pain
NHS Pain Support
Tips and advice on how to manage pain
Published: August 2016
Next review: August 2017