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Genetic and Rare Diseases Information Center (GARD)

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Pineoblastoma


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Overview



What is pineoblastoma?

What causes pineoblastoma?

Can pineoblastoma be inherited?


What is pineoblastoma?

Pineoblastoma is a cancerous (malignant) tumor 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

What causes pineoblastoma?

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

Can pineoblastoma be inherited?

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

References
  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.