National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pineoblastoma



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Pineoblastoma is a cancerous (malignanttumor that develops in the pineal gland.  The pineal gland is located in the brain and makes the hormone melatonin to regulate the body's sleep patterns.  Pineoblastoma is a type of primitive neuroectodermal tumor (PNET).  Pineoblastoma mainly affects children, but can also occur in adults.[1]  Treatment of pineoblastoma includes surgery to remove as much of the tumor as possible, followed by radiation therapy and chemotherapy.[2]
Last updated: 12/15/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Pinealoma 0010799
80%-99% of people have these symptoms
Headache
Headaches
0002315
30%-79% of people have these symptoms
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
0000708
Increased intracranial pressure
Rise in pressure inside skull
0002516
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
0002354
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
5%-29% of people have these symptoms
Amaurosis fugax 0100576
Impaired convergence 0000619
Midline brain calcifications 0007045
Papilledema 0001085
Paralysis
Inability to move
0003470
Progressive visual field defects 0007987
Reduced visual acuity
Decreased clarity of vision
0007663
Retinoblastoma 0009919
Seizure 0001250
Sensory neuropathy
Damage to nerves that sense feeling
0000763
1%-4% of people have these symptoms
Lethargy 0001254
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Last updated: 7/1/2020

Because pineoblastomas are quite rare, the exact cause of these tumors is not yet known.  Most are thought to occur by chance (sporadic cancer).  However, there is some evidence that a small proportion of pineoblastomas may be caused by an inherited predisposition, meaning that changes (mutations) in a gene inherited from a parent may increase the chance that a pineoblastoma could develop.[1]  Mutations in the RB1 gene are known to cause an increased risk for pineoblastoma.[3]
Last updated: 12/15/2011

Only a small proportion of pineoblastomas are thought to be inherited.  Of the inherited pineoblastomas, most are associated with changes (mutations) in the RB1 gene, which are usually associated with an increased chance of developing eye tumors known as retinoblastomas.[1]  A few articles have suggested that inherited changes in the APC gene, which are usually associated with an increased chance to develop colon cancer and brain tumors, might contribute to the development of a small number of pineoblastomas.[1][4]  There has been a report of a mother and daughter both developing pineoblastoma, which suggests that there may be other inherited causes of this tumor.[5]
Last updated: 12/15/2011

Standard treatment for pineoblastoma begins with surgery to remove as much of the tumor as possible.  Surgery is followed by radiation therapy, which aims to destroy any cancer cells that may remain near the original location of the tumor, and chemotherapy, which is designed to kill any cancer cells that may have traveled to other parts of the body.[6]
Last updated: 3/5/2013

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Pineoblastoma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is pineoblastoma a terminal illness?  What is the chance pineoblastoma can be cured? See answer

  • What causes a pineoblastoma?  Are there any risk factors for this disease?  Can it be inherited? See answer



  1. Li MH, Bouffet E, Hawkins CE, Squire JA, Huang A. Molecular genetics of supratentorial primitive neuroectodermal tumors and pineoblastoma. Neurosurgical Focus. 2005; 19:E3. http://www.ncbi.nlm.nih.gov/pubmed/16398467. Accessed 12/12/2011.
  2. Tate MC, Rutkowski MJ, Parsa AT. Contemporary management of pineoblastoma. Neurosurgery Clinics of North America. 2011; 22:409-412. http://www.ncbi.nlm.nih.gov/pubmed/21801990. Accessed 12/12/2011.
  3. Wong FL, Boice JD Jr, Abramson DH, Tarone RE, Kleinerman RA, Stovall M, Goldman MB, Seddon JM, Tarbell N, Fraumeni JF Jr, Li FP. Cancer incidence after retinoblastoma. Radiation dose and sarcoma risk. JAMA. 1997; 278:1262-1267. http://www.ncbi.nlm.nih.gov/pubmed/9333268. Accessed 12/12/2011.
  4. Ikeda J, Sawamura Y, van Meir EG. Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome?. British Journal of Neurology. 1998; 12:576-578. http://www.ncbi.nlm.nih.gov/pubmed/10070471. Accessed 12/12/2011.
  5. Lesnick JE, Chayt KJ, Bruce DA, Rorke LB, Trojanowski J, Savino PJ, Schatz NJ. Familial pineoblastoma. Report of two cases. Journal of Neurosurgery. 1985; 62:930-932. http://www.ncbi.nlm.nih.gov/pubmed/3998847. Accessed 12/12/2011.
  6. Tate MC, Rutkowski MJ, Parsa AT. Contemporary management of pineoblastoma. Neurosurgery Clinics of North America. 2011; 22:409-412. http://www.ncbi.nlm.nih.gov/pubmed/21801990. Accessed 3/5/2013.