This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long term outcome depends on the age at diagnosis, the size of the tumor, and if the tumor has spread outside the brain (metastasized). The cause of pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a pineoblastoma. Diagnosis is based on the symptoms, clinical exam, and imaging studies. In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope. Treatment of pineoblastoma includes surgery to remove as much of the tumor as possible, as well as radiation therapy and chemotherapy.
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