What Is Aggressive Fibromatosis (Desmoid Disease)?
Aggressive fibromatosis, also known as desmoid disease or desmoid tumours, represents a rare condition characterized by the growth of fibrous tumours. These tumours are benign, meaning they do not metastasize (spread) to other parts of the body. However, they can be locally aggressive, invading surrounding tissues and organs, which can lead to significant complications. Desmoid tumours can occur anywhere in the body but are most commonly found in the abdomen, limbs, and chest.
Symptoms
Symptoms of aggressive fibromatosis vary depending on the tumour’s location but may include:
- A palpable mass or swelling
- Pain or discomfort in the affected area
- Restricted movement if the tumour is near joints or limbs
- Intestinal obstruction or abdominal pain if the tumour is in the abdomen
- Other organ-specific symptoms depending on the tumour’s location
Disease Aetiology (Causes)
The exact cause of aggressive fibromatosis is not fully understood, but several factors are associated with an increased risk of developing the disease, including:
- Genetic mutations, particularly in the APC gene or mutations in the CTNNB1 gene
- Hormonal factors, with some evidence suggesting a link to estrogen levels
- Physical trauma or surgical intervention, which may trigger tumour growth in some cases
Diagnosis
Diagnosing desmoid tumours involves:
- Imaging tests such as ultrasound, computed tomography (CT) scans, magnetic resonance imaging (MRI), to visualize the tumour
- Biopsy, where a sample of the tumour tissue is examined under a microscope to confirm the diagnosis
- Genetic testing may be conducted to identify mutations associated with the disease
Treatment
Treatment for aggressive fibromatosis is highly individualized and may include:
- Watchful waiting, as some desmoid tumours may stop growing or even regress on their own
- Surgical removal of the tumour, which is often considered when the tumour causes significant symptoms or complications, but there’s a risk of recurrence
- Radiation therapy, used in some cases to reduce the size of the tumour or relieve symptoms
- Medications, including non-steroidal anti-inflammatory drugs (NSAIDs), hormonal therapies (such as tamoxifen), and targeted therapies
- Chemotherapy, considered in aggressive cases where the tumour is unresectable or recurs after surgery
What support can we give for the Aggressive Fibromatosis (Desmoid Disease)?
Aggressive Fibromatosis (Desmoid Disease) is a rare cancer, meaning it is not as well-known as other forms of cancer. Without a Ribbon is an Australian organisation that provides support for individuals who suffer from rare cancers. So, we provide a designated platform for Warriors to obtain information specific to their Rare Cancer. We also provide annual opportunities for our Warriors to meet and learn from each other. If you suffer from rare cancer such as Aggressive Fibromatosis (Desmoid Disease), we can help and support you through your journey thanks to the generous donations we receive. Click the link below to sign up and become a Warrior today!
You can help us with your donation:
Without a Ribbon is a charity that works hard to aid those who suffer from rare cancers. You can help our cause in a variety of ways:
