What is DICER1 Syndrome-Associated Sarcoma?
DICER1 Syndrome-Associated Sarcoma is a rare type of cancer linked to changes in the DICER1 gene.
The DICER1 gene normally helps control how cells grow and develop. When this gene is damaged, abnormal cells can grow and form tumours.These cancers usually occur in children, teenagers, and young adults.
They can develop in different body parts such as:
- Lungs
- Brain
- Kidney
- Female reproductive organs
- Abdomen or pelvis
- Peritoneum (lining inside the abdomen)
Many of these tumours look similar under the microscope and often contain:
- Muscle-like cells (rhabdomyosarcoma features)
- Cartilage tissue
- Areas of abnormal or aggressive cells
Because these tumours are related, doctors now think they belong to one cancer spectrum connected with DICER1 mutations.
Causes
The main cause is a mutation in the DICER1 gene.
There are two possible ways this mutation happens:
- Inherited
The mutation is passed from parent to child. This condition is called DICER1 syndrome. - Acquired
The mutation develops later in life only in the tumour cells and is not inherited.
People with DICER1 mutations have a higher risk of developing different rare tumours.
Signs and Symptoms
Symptoms depend on where the tumour develops.
Common symptoms may include:
- Abdominal swelling or pain
- Lump or mass in the body
- Difficulty breathing (if in lungs)
- Headaches or seizures (if in the brain)
- Vaginal bleeding or pelvic pain
- Weight loss
- Fatigue
- Fever
Some tumours grow slowly, while others can behave aggressively.
Diagnosis
Doctors use several tests to diagnose DICER1-Associated Sarcoma.
Common diagnostic methods:
- Physical examination
- CT scan or MRI
- Ultrasound
- Biopsy (removing a tissue sample)
- Microscopic examination of tumour cells
- Immunohistochemistry tests such as:
- Myogenin
- MyoD1
- Genetic testing for DICER1 mutation
If a DICER1 mutation is found, doctors may also test family members because some cases are inherited.
Treatment
Treatment depends on size, location and stage of the cancer. Age of the patient and distant metastasis (spread) are also contributing factors in determining the suitable treatment option.
Main treatment options:
- Surgery : Doctors try to remove the tumour completely whenever possible.
- Chemotherapy: Anti-cancer medicines are used to destroy cancer cells.
- Radiation therapy: High-energy rays may be used to kill remaining cancer cells.
- Targeted follow-up and screening: Patients with DICER1 syndrome need regular monitoring because they can develop other tumours later.
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: