Rhabdoid tumours, commonly referred to as malignantcancerous, may grow and spread to other areas of the body rhabdoid tumours, are rare malignancies that generally affect young children. In most cases they develop in the kidneys or the brain/central nervous system, however it can less commonly develop in other areas of the body, including soft tissues, lung, skin.
Rhabdoid tumours that develop in the brain or CNS are called Atypical Teratoid/Rhabdoid tumours (ATRT), and are classified as a type of embryonal tumoura tissue mass that forms from groups of unhealthy cells. For more information on ATRTs and embryonal tumours, please refer to the Rare Cancers Australia Embryonal Tumours page.
Rhabdoid tumours are slightly more common in males, and tend to be diagnosed under the age of two. However, anyone can develop this disease.
Treatment
If a rhabdoid tumour is detected, it will be staged and graded based on size, metastasiswhen the cancer has spread to other parts of the body, also known as mets, and how the cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs cellsthe basic structural and functional unit of all living things look under the microscope. Stagingthe process of determining how big the cancer is, where it started and if it has spread to other areas and grading helps your doctors determine the best treatment for you.
Cancers can be staged using the TNM staging system:
- T (tumour) indicates the size and depth of the tumour.
- N (nodea small lump or mass of tissue in your body) indicates whether the cancer has spread to nearby lymph nodessmall bean-shaped structures that filters harmful substances from lymph fluid.
- M (metastasis) indicates whether the cancer has spread to other parts of the body.
This system can also be used in combination with a numerical value, from stage 0-IV:
- Stage 0: this stage describes cancer cells in the place of origin (or ‘in situ’) that have not spread to nearby tissuea group of cells that work together to perform a function.
- Stage I: cancer cells have begun to spread to nearby tissue. It is not deeply embedded into nearby tissue and had not spread to lymph nodes. This stage is also known as early-stage cancer.
- Stage II: cancer cells have grown deeper into nearby tissue. Lymph nodes may or may not be affected. This is also known as localisedaffecting only one area of body cancer.
- Stage III: the cancer has become larger and has grown deeper into nearby tissue. Lymph nodes are generally affected at this stage. This is also known as localised cancer.
- Stage IV: the cancer has spread to other tissues and organs in the body. This is also known as advancedat a late stage, far along or metastatic cancer.
Cancers can also be graded based on the rate of growth and how likely they are to spread:
- Gradea description of how abnormal cancer cells and tissue look under a microscope when compared to healthy cells I: cancer cells present as slightly abnormal and are usually slow growing. This is also known as a low-grade tumour.
- Grade II: cancer cells present as abnormal and grow faster than grade-I tumours. This is also known as an intermediate-grade tumour.
- Grade III: cancer cells present as very abnormal and grow quickly. This is also known as a high-grade tumour.
Once your tumour has been staged and graded, your doctor may recommend genetic testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment is dependent on several factors, including location, stage of disease and overall health.
Treatment options for rhabdoid tumours may include:
- Surgerytreatment involving removal of cancerous tissue and/or tumours and a margin of healthy tissue around it to reduce recurrence to remove as much of the tumour(s) as possible – varies based on tumour location(s).
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells.
- Stem cell transplanta procedure that involves replacing unhealthy blood-forming cells (stem cells) with healthy stem cells.
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
Risk factors
While the cause of rhabdoid tumours remains unknown, some of the following factors may increase the likelihood of developing the disease:
- Genetic mutations of the SMARCB1 gene.
- Having rhabdoid tumour predisposition syndrome (RTPS).
Not everyone with these riskthe possibility that something bad will happen factors will develop the disease, and some people who have the disease may have none of these risk factors. See your general practitioner (GP) if you are concerned.
Symptoms
The symptoms of rhabdoid tumours will often vary based on location.
Symptoms of Rhabdoid Tumours in the Kidneya pair of bean-shaped organs in the abdomen that are responsible for filtering excess water and waste products from the blood and converting them into urine to be removed from the body
Symptoms of rhabdoid tumours in the kidneys may include:
- Abdominal massa growth of cells that come together to make a lump, may or may not be cancer.
- Hypertensionhigh blood pressure.
- Haematuriathe presence of blood in urine.
- Hypercalcaemiaexcess levels of calcium in the blood.
- Difficulty urinating.
Symptoms of Atypical Teratoid/Rhabdoid Tumours
Symptoms of ATRTs may include:
- Difficulties with balancing and coordination and/or walking.
- Slowed speech.
- Headache, especially in the morning.
- Headache that only goes away after vomiting.
- General weakness and fatiguea state of extreme tiredness or exhaustion, can be physical or mental.
- Seizures.
- Diplopsia and/or other eye problems.
- Nauseato feel sick or likely to vomit and/or vomiting.
- Irritability.
- Slowed growth.
- Changes in eating habits.
- Delayed developmental milestones, such as sitting up, walking and talking.
Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.
Diagnosis
If your doctor suspects you have a rhabdoid tumour, they may order the following tests to confirm the diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results and refer you to a specialist for treatment:
- Physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Neurological examinationan assessment of sensory and motor functions, such as vision, balance and coordination.
- Blood teststesting done to measure the levels of certain substances in the blood.
- Urine teststesting done to measure the levels of certain substances in the urine.
- Imagingtests that create detailed images of areas inside the body tests, potentially including:
- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
- PET (positron emission tomography) scana type of medical imaging that uses radioactive tracers to create detailed images of the body.
- Ultrasounda type of medical imaging that uses soundwaves to create detailed images of the body .
- Bone scana type of medical imaging that uses a radioactive tracer to detect bone conditions or abnormalities.
- Exploratory surgeryan exploratory surgical procedure used for conditions that cannot be confirmed by scans and tests alone, potentially including:
- Cystoscopyan examination of the bladder and urethra with a small, flexible instrument known as a cystoscope.
- Ureteroscopyexamination of the bladder and ureters using a small, flexible instrument called a ureteroscope .
- Bronchoscopyan examination of the trachea and lungs with a small, flexible instrument known as a bronchoscope.
- Mediastinoscopyexamination of the mediastinum (area between the lungs) with a small, flexible instrument called a mediastinoscope .
- Thoracoscopyexamination of the inside of the chest cavity with a small, flexible instrument known as a thorascope.
- Biopsyremoval of a section of tissue to analyse for cancer cells.