According to an article recently published in the journal Cancer, patients with familial adenomatous polyposis (FAP) who have a mutation within the APC gene are at an increased risk of developing brain tumors, particularly females with specific APC mutations.
Familial adenomatous polyposis is a condition that greatly increases an individual’s risk of developing colon cancer early in life. Most patients with FAP have a detectable genetic mutation within the APC gene, which can ultimately result in the development of several-sometimes hundreds-of polyps within the colon. Individuals with FAP often have their colon removed before the age of 40. Individuals with FAP are also at an increased risk of brain tumors compared to the general population, a phenomenon referred to as brain tumor polyposis (BTP).
Researchers from several institutions in the United States recently conducted a clinical study to explore the potential relationship between APC mutations and risks of brain tumors. This study included analyses of data from a registry including individuals with FAP and BTP. The researchers analyzed the relationship between different types of brain tumors with APC mutations among these patients.
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- The most common type of brain tumor in BTP was medulloblastoma.
- Medulloblastoma was more common in females under the age of 20 years.
- Patients with APC mutations had nearly four times the risk of developing any type of brain tumor.
- Patients with APC mutations referred to as segment 2 APC mutations (codons 679-1224) had more than 13 times the risk of developing medulloblastoma than patients with nonsegment 2 mutation.
The researchers concluded that patients with FAP with APC mutations had a significantly increased risk of developing any type of brain tumor, with medulloblastoma being the most common. Furthermore, a segment 2 APC mutation was associated with a significantly increased risk of developing medulloblastoma. The researchers concluded, “Further studies are necessary to determine if this observation and the natural history of medulloblastoma in children justifies novel, aggressive, targeted screening of at-risk individuals.”
Patients with FAP, or parents of children with FAP, may wish to speak with their physician regarding their individual risks of potentially developing a brain tumor as well as learn about possible screening measures for and symptoms of brain tumors.
Reference: Attard T, Giglio P, Koppula S, et al. Brain tumors in individuals with familial adenomatous polyposis. Cancer. 2007; 109:761 – 766.