Rosette-forming glioneural tumours (RGNTs) are a rare central nervous system (CNS) tumoura tissue mass that forms from groups of unhealthy cells that tends to develop in the midline structures of the brain. These tumours are often benignnot cancerous, can grow but will not spread to other body parts and slow growing, however in rare cases they may become malignantcancerous, may grow and spread to other areas of the body. Most commonly, it develops in the fourth ventricle of the cerebrum, however, can affect other midline structures such as the spine, optic chiasm (located below the hypothalamus), and pineal gland.
The brain is a complex organ that is responsible for controlling all functions of the body. It has five main portions: the cerebrum, cerebellum, brainstem, pituitary gland, and hypothalamus. The cerebrum is the biggest part of the brain, and consists of the frontal, parietal, temporal, and occipital lobes. This part of the brain is responsible for voluntary movement, intelligence, and memory. The cerebellum is a small part of the brain located at the back of the head, and regulates posture and balance. The brainstem is a small, stalk-like structure towards the bottom of the brain that connects the brain to the spinal cord. It regulates many vital bodily processes, such as swallowing, breathing, and heart rate. The pituitary gland is a pea sized organ located behind the eyes, and is responsible for the production and secretion of hormones in the body. The hypothalamus is located deep within the brain, and has many important functions, such as producing and secreting different hormones, regulating temperature, and controlling appetite.
The spinal cord is a long, thin, tubular structure that extends down from the brainstem to the lower back. It is made of nerve tissuea group of cells that work together to perform a function, and is surrounded by the bones of the spine (vertebrae). The spinal cord is responsible for transmitting nerve signals from the brain to the body, and vice versa. It has motor functions (such as voluntary movement), sensory functions (such as pressure, touch, temperature, and pain), and autonomous functions (such as regulating digestion, heart rate, and bloodthe red bodily fluid that transports oxygen and other nutrients around the body pressure).
RGNTs are slightly more common in females, and tend to develop in children and young adults under 30. However, anyone can develop this disease.
Treatment
When cancers are detected, they are 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. However, as most RGNTs are considered benign, these tumours are generally considered low-grade and are not staged.
Once your tumour has been diagnosed, 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, age, stage of disease and overall health.
Treatment options for RGNTs 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 as possible.
- Shunt insertiona procedure to relieve build-up of cerebrospinal fluid (CSF) in the brain.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells.
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells.
- Antiseizure medicationmedication used to treat and prevent seizures.
- Corticosteroidsa type of anti-inflammatory medication that is used to treat inflammation.
- Immunotherapya treatment that uses a person's immune system to fight cancer.
- 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
Because of how rare RGNTs are, there has been limited research done into the riskthe possibility that something bad will happen factors of this disease. However, researchers have identified a potential link between RGNTs and certain genetic conditions, including neurofibromatosis type 1 (NF1) and Tricho-rhino-phalangeal dysplasiathe presence of abnormal cells in a tissue or organ type 1 syndrome (TRPS I).
Symptoms
The symptoms of RGNTs will often vary based on which portions of the brain and/or spine are affected. Common symptoms of RGNTs include:
- Persistent headaches, which may increase in intensity.
- Difficulty with balance and coordination.
- Nauseato feel sick or likely to vomit and/or vomiting.
- Numbness and tingling throughout the body.
- Muscle weakness, particularly in the arms and legs.
- Changes in vision, such as:
- Blurred vision.
- Double vision.
- Worsening eyesight.
- Neck pain.
- Changes in hearing, such as hearing impairment or hearing loss.
- Difficulties with speech.
- Insomnia.
- Fatiguea state of extreme tiredness or exhaustion, can be physical or mental.
- Tremors, which may affect one area of the body or affect the whole body.
- Hydrocephalusa build up of cerebrospinal fluid (CSF) in the brain, causing pressure and potentially damaging brain tissue, which carries its own set of symptoms:
- Headaches.
- Increased intracranial pressure.
- Nausea and/or vomiting.
- Difficulties with eye movement.
- Difficulties with balance.
- Difficulties walking.
- Seizures.
- Dizziness.
- Syncopefainting or passing out.
- Confusion.
- Behavioural and/or personality changes.
- Memory loss.
- Decreased cognition.
In rare cases, the following symptoms may also appear:
- Back pain.
- Chest pain.
- Pain in the arms and/or legs.
- Difficulties with urination and/or bowelportion of the digestive system that digests food (small bowel) and absorbs salts and water (large bowel); also called intestines habits.
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 an RGNT, 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.
- Lumbar puncturea procedure that involves inserting a needle between two vertebrae in the lower spine and extracting a sample of cerebrospinal fluid (CSF) for analysis.
- Imagingtests that create detailed images of areas inside the body tests, potentially including:
- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
- 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.
- Blood teststesting done to measure the levels of certain substances in the blood.
- Electromyogram (EMG)a diagnostic procedure used to measure the response of nerves and skeletal muscles to electrical activity.
- Nerve conduction studiesa diagnostic procedure used to measure the speed of electrical impulses through a nerve.
- Biopsyremoval of a section of tissue to analyse for cancer cells.
