What are Primitive Neuroectodermal Tumours?
Primitive Neuroectodermal Tumours (PNETs) are a rare group of highly aggressive cancers that originate from neural crest cells, which are early, undeveloped cells in the central and peripheral nervous system. PNETs predominantly affect children and young adults, and can occur in various parts of the body, including the brain, spinal cord, and peripheral nerves. They are characterized by small, round, and undifferentiated cells.Symptoms
The symptoms of Primitive Neuroectodermal Tumours vary depending on the tumour’s location:- Brain (including cerebellum): Headaches, nausea, vomiting, balance problems, and changes in behaviour or cognitive function.
- Spinal Cord: Pain, weakness, or numbness in the extremities, and difficulty with bladder and bowel control.
- Peripheral Nerves: Localized pain, a noticeable lump or swelling, and potential weakness or loss of function in the affected area.
Disease Aetiology (Causes)
The cause of Primitive Neuroectodermal Tumours is not entirely clear, though they are thought to arise from faults in the early development of neural crest cells. Genetic factors may play a role, but typically there is no clear pattern of inheritance.Diagnosis
Diagnosing PNETs typically involves:- Imaging Studies: MRI and CT scans are used to identify the presence and extent of the tumour.
- Biopsy: A tissue sample of the tumour is examined under a microscope to confirm the diagnosis.
- Lumbar Puncture: In cases of brain involvement, check for tumour cells in the cerebrospinal fluid.
- Blood and Urine Tests: To assess overall health and rule out other conditions.
Treatment
Treatment for PNETs generally includes a combination of therapies:- Surgery: To remove as much of the tumour as possible.
- Chemotherapy: Often used both before and after surgery to shrink the tumour and target any remaining cancer cells.
- Radiation Therapy: Typically employed post-surgery, especially in cases where complete removal of the tumour is not possible.
- High-Dose Chemotherapy with Stem Cell Rescue: In certain high-risk or recurrent cases.