Sachin Sarcoma Society
Desmoid (Fibromatosis)

Desmoid (Fibromatosis)

What are Desmoid tumours?

Desmoid tumours are rare benign (non-cancerous) soft tissue tumours. They grow from the connective tissue in the body that connects, supports, and surrounds 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 is more common in women than men.

What is the course of this disease?

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. Furthermore, the tendency for recurrence with surgery makes the treatment of these tumours challenging. Many times the disease shows 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.

  1. The first subtype occurs in the general population. There is no clear link between specific genes and the development of these tumours. As a result, they are called sporadic desmoid tumours.
  2. The second subtype is linked with pregnancy.
  3. 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. Moreover, desmoid tumours are the second most common type of tumour that develops in people with FAP.

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

Desmoid tumour’s symptoms differ based on where the tumours occur. It predominantly happens in the abdomen, arms, and legs. Although, it can form anywhere in the body.

In general, its 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 a desmoid tumour diagnosed?

Diagnosing desmoid tumours usually begins with a visit to the family doctor. The doctor will ask you about any symptoms the patient is having and will do a physical exam. Based on this information, he/she may refer you to a specialist or order tests to check for desmoid tumour or other health problems.

These tests may include:

  • CT scan
  • MRI
  • Biopsy
  • Colonoscopy

How important is biopsy for the diagnosis of desmoid tumour?

A biopsy of desmoid-type fibromatosis (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 a specialist soft tissue pathologist. On carrying out immunohistochemistry, usually, beta catenin is positive.

Do I need a specialist’s referral if I am diagnosed with desmoid tumour?

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

What are the treatment options currently available?

Treatments for desmoid tumours include:

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

What are the drugs my doctor may prescribe for Desmoid Tumour

  • Sorafenib is one of the favoured drugs in adults because of recent trials supporting its use. Also, it’s 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 include methotrexate and vinblastine (Velbe) doxorubicin (Adriamycin), dacarbazine (DTIC), etc. Furthermore, in children, the data about the efficacy of sorafenib is inadequate, so chemotherapy is preferred many times.
  • NSAIDS and tamoxifen have been used for a long time in the treatment but their utilization is decreasing gradually as the proof of effectiveness is very low.
  • 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 the 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. Furthermore, the prognosis is quite unpredictable, as in many cases 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 (SSS) is one of the support groups. However, we want more support groups in India given the number of patients here. DTRF is our sister organization and is doing a great job globally.