Turcot syndrome increases the risk of developing colon or brain cancer due to mutations in different genes. It is often a subset of other syndromes, such as familial adenomatous polyposis syndrome or Lynch syndrome. Diagnosis can be made through genetic testing or the presence of characteristic tumors. Aggressive screening and prophylactic removal of the colon may be necessary for those at risk.
Turcot syndrome is a genetic disorder that places affected individuals at an increased risk of developing several types of cancer. They typically develop colon or brain cancer due to mutations in different genes. Diagnosis of the syndrome can be made after the characteristic tumors have developed or based on genetic testing that identifies mutations known to be associated with the syndrome. Patients known to have the syndrome undergo aggressive screening processes in order to identify nascent cancers at a stage where they can still be treated.
The name Turcot syndrome was first used to describe families in which members had an increased risk of developing colon cancer and various brain tumors. With further research into the etiology of this condition, scientists determined that the disease was not an independent, clearly defined entity. Instead, it represented a subset of other syndromes that put patients at risk for different types of cancer. Patients with familial adenomatous polyposis syndrome or Lynch syndrome who develop brain tumors are considered to have Turcot syndrome.
Several genetic mutations can cause Turcot syndrome. The disease often develops due to a mutation in a gene called the adenomatous polyposis (APC) gene; abnormalities in this gene are typically associated with a syndrome called familial adenomatous polyposis (FAP). In other cases, mutations in the S genes, which are responsible for repairing other genes, known as mismatch repair genes, can cause the syndrome. When Turcot syndrome is secondary to this type of defect, it is often considered a subset of Lynch syndrome.
The symptoms of Turcot syndrome vary depending on the type of cancer that develops in an affected person. Patients who develop colon cancer may have symptoms such as abdominal pain, a change in stool habits, or blood in the stool. Brain tumors can cause many different problems, including personality changes, memory loss, incoordination, and weakness of different parts of the body.
The diagnosis of Turcot syndrome can be made in several ways. Colon cancer is most often diagnosed with the use of a colonoscopy. Imaging studies, such as a computed tomography (CT) scan or contrast X-ray, might also suggest the diagnosis. Brain cancer is often identified with the help of magnetic resonance imaging (MRI).
One of the most important aspects of managing Turcot syndrome is identifying individuals at risk of developing cancer. Often, the diagnosis is suggested based on the presence of family members with these specific diseases. The risk for the disease can be determined by testing the genetic material of these individuals for the genetic mutations known to cause the syndrome. Patients who have mutations known to cause Turcot syndrome might undergo aggressive screening tests, or in some cases prophylactic removal of the colon, in order to identify tumors while they can still be treated or to prevent tumors from occurring in the first place.
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