Sachin Sarcoma Society


What are Desmoid tumours?

Desmoid tumours are rare benign (non-cancerous) soft tissue tumors.  Desmoid tumors grow from the connective tissue in your body that connect, support and surround other body parts and organs.

Synonyms: Desmoid-type fibromatosis (DF) ,  Aggressive fibromatosis

What is the incidence of Desmoid tumours?

 This devastating disease is rare and affects approximately 2 – 4 people in 1 million every year. It occurs most frequently in individuals between 15 and 60 years of age, and are more common in women than men

What is the Course of this disease?

They are also known as “aggressive fibromatosis” or desmoid-type fibromatosis. Desmoid tumours are locally aggressive and can cause life threatening problems or even death when they invade vital organs. These tumours don’t spread, or metastasize, to other parts of the body. The tendency for recurrence with surgery makes the treatment of these tumours challenging. Many times the disease show spontaneous resolution (ranging from 5 to 20% in different reports)

What is the Cause of this disease?

There are 3 subtypes of desmoid tumours. Each subtype is related to different risk factors.

The first subtype occurs in the general population. There is no clear link between specific genes and the development of these tumours, so they are called sporadic desmoid tumours.

The second subtype is linked with pregnancy.

The third subtype is linked with familial adenomatous polyposis (FAP). FAP is an inherited disease that causes a large number of polyps to form in the colon and rectum and can cause cancer. People with FAP may develop many different types of tumours, usually in the abdominal cavity. Desmoid tumours are the second most common type of tumour that develop in people with FAP.

What are the symptoms associated with the disease and its usual sites of occurrence?

Desmoid tumour symptoms differ based on where the tumours occur. Desmoid tumours most often happen in the abdomen, arms and legs. But they can form anywhere in the body.

In general, signs and symptoms include:

  • a mass or area of swelling
  • Pain
  • Loss of function in the affected area
  • Cramping and nausea, when desmoid tumours occur in the abdomen

How is Desmoid tumour Diagnosed?

Diagnosing desmoid tumours usually begins with a visit to your family doctor. Your doctor will ask you about any symptoms you have and will do a physical exam. Based on this information, your doctor may refer you to a specialist or order tests to check for desmoid tumour or other health problems. Tests may include:

  • CT scan
  • MRI
  • biopsy
  • colonoscopy

How important is Biopsy for the diagnosis of Desmoid tumour?

A biopsy of DF should be done by a specialist sarcoma team who has expertise in diagnosing and treating DF. A diagnosis of DF should be confirmed by an specialist soft tissue pathologist. On immunohistochemistry usually beta catenin is positive. 

Do I need a Specialist referral if I am diagnosed with Desmoid Tumour?

Treatments are often given in clinics that specialize in treating soft tissue sarcomas. Doctors at these clinics have different specialties and are experienced treating this type of tumour. Yes you need desmoid specialist or sarcoma specialist.

What are the Treatment options currently available?

Treatments for desmoid tumours include:

  • Active Surveillance or Watch & Wait – Monitoring the growth of the tumour 
    If your desmoid tumour causes no signs or symptoms, your doctor may recommend monitoring the tumour to see if it grows. You may undergo imaging tests every few months. Some tumours never grow and may never require treatment. Some tumours may shrink on their own without any treatment. Recently this has become preferred mode in first line. 
  • Surgery
    If your desmoid tumour causes signs and symptoms, your doctor may recommend an operation to remove the entire tumour and a small margin of healthy tissue that surrounds it. There is 40 to 50% chances that disease might recur after surgery and after second surgery 90% might recur. This is not less preferred modality for majority of desmoid patients. 
  • Radiation therapy
    Radiation therapy uses high-powered beams, such as X-rays and protons, to kill tumour cells. Radiation therapy may be recommended instead of surgery if you’re not healthy enough for surgery or if the tumour is located in a place that makes surgery risky. Now no longer used routinely except in very rare cases due to risk of secondary malignancies.
  • Medical therapies
    Now medical therapies are preferred in majority of the patients. Options include sorafenib, chemotherapy, pazopanib etc.

What are the drugs my doctor may prescribe for Desmoid Tumour?

  • Sorafenib – This is one of the favoured drug in adults because of recent trials supporting its use. Its one of the most effective medicines in desmoids. 
  • Chemotherapy may be used if a desmoid tumour continues to grow after other treatments or if it doesn’t respond to other drug therapies. Chemotherapy combinations commonly used to treat desmoid tumours are: methotrexate and vinblastine (Velbe) doxorubicin (Adriamycin), dacarbazine (DTIC) etc. In children because the data about sorafenib is less so chemotherapy is preferred many times 
  • Use of NSAIDS and tamoxifen- Has been used since long time but gradually decreasing as the proof of effectiveness is very less. 
  • Imatinib is very less effective but might be effective in some cases.

What is the prognosis for someone with a desmoid tumour?

The estimate of how a disease will affect you long-term is called prognosis. Every person is different and prognosis will depend on many factors, such as:

  • Where the tumour is in your body
  • How fast the tumour grows
  • How much of the tumour was taken out during surgery

If you want information on your prognosis, it is important to talk to your doctor. Prognosis is quite unpredictable as in many case spontaneous regression is also seen.

Can I get Pregnant or continue my pregnancy  if I am diagnosed with Desmoid tumour?

Desmoid Tumour is not a contraindication for pregnancy , but you need to be closely monitored during pregnancy by your specialist doctor and obstetrician. During pregnancy the rate of growth of the Desmoid Tumour 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.

Are there any Desmoid Support Groups in India?

Sachin Sarcoma society is one of the support groups. However we want more support groups in India given the number of patients here. DTRF is our sister organisation and is doing great job  globally.