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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pineoblastoma


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Inheritance

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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][2]  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.[3]
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. 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.
  3. 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.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.