Turcot Syndrome: Causes and Symptoms

Turcot Syndrome is a rare genetic disorder that significantly impacts the lives of those affected. It is characterized by the presence of both colorectal polyps and primary central nervous system (CNS) tumors, particularly brain tumors. The interplay between these manifestations complicates the diagnosis and treatment, making a thorough understanding of the syndrome vital for effective management.

What is Turcot Syndrome?

Turcot Syndrome, also known as "Glioma-polyposis syndrome," is a condition that links the occurrence of colorectal polyps with brain tumors. First described by Jacques Turcot in 1959, this syndrome is classified into two types based on genetic mutations: Type 1 and Type 2.

Type 1 and Type 2 Turcot Syndrome

Type 1 is associated with mutations in the mismatch repair (MMR) genes, leading to Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC). Patients with this type often develop glioblastoma, a highly aggressive form of brain tumor.
Type 2 is linked to mutations in the APC gene, which is also responsible for Familial Adenomatous Polyposis (FAP). This type is characterized by medulloblastomas and a higher number of colorectal polyps.

The genetic basis of Turcot Syndrome requires a comprehensive understanding of its causes, to better identify and manage the condition.

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Causes of Turcot Syndrome

The etiology of Turcot Syndrome lies in genetic mutations. These mutations are inherited in an autosomal dominant pattern, which means that a single copy of the altered gene is enough to predispose an individual to the syndrome.

Genetic Mutations Involved

Mismatch Repair (MMR) Genes: These genes are responsible for correcting DNA replication errors. Mutations here lead to microsatellite instability, a hallmark of Lynch Syndrome, and thereby Type 1 Turcot Syndrome.
APC Gene: This gene plays a crucial role in controlling cell growth. Mutations cause uncontrolled cell division, leading to polyposis and Type 2 Turcot Syndrome.

Understanding these genetic underpinnings is essential for accurate diagnosis and targeted treatment strategies.

Symptoms of Turcot Syndrome

Turcot Syndrome's symptoms are primarily dictated by the presence of colorectal polyps and CNS tumors. The manifestation of symptoms is often dependent on the type of genetic mutation.

Colorectal Symptoms

Polyps: The presence of numerous colorectal polyps can lead to symptoms such as rectal bleeding, changes in bowel habits, and abdominal pain.
Cancer Risk: These polyps have a significant risk of turning malignant if not managed appropriately, necessitating regular surveillance.

Neurological Symptoms

Brain Tumors: The type of brain tumor influences symptoms. Glioblastomas can cause headaches, seizures, and neurological deficits, while medulloblastomas may lead to symptoms related to increased intracranial pressure, such as nausea and vomiting.
Cognitive and Motor Impairments: Depending on the tumor's location, patients may experience cognitive impairments, motor weakness, or changes in behavior.

The diversity of symptoms requires a multidisciplinary approach for effective management.

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Diagnosing Turcot Syndrome

Given its genetic basis and complex symptomatology, diagnosing Turcot Syndrome involves a combination of clinical evaluation, imaging, and genetic testing.

Clinical Evaluation and Imaging

Colonoscopic Examination: This is crucial for identifying colorectal polyps and assessing their number and size.
Neuroimaging: MRI or CT scans are employed to detect and evaluate CNS tumors, providing critical information on size, location, and type.

Genetic Testing

Genetic Counseling: Essential for families, genetic counseling provides insight into hereditary risks and guides testing decisions.
Genetic Testing: Identifying mutations in MMR or APC genes confirms the diagnosis. This information is vital for planning surveillance and preventive strategies.

The integration of clinical, imaging, and genetic data ensures a comprehensive diagnostic approach.

Management and Treatment Options

Managing Turcot Syndrome requires addressing both colorectal and neurological components, often necessitating a collaborative effort among various specialists.

Colorectal Management

Surveillance: Regular colonoscopic surveillance is paramount to monitor polyp growth and prevent malignancy.
Surgical Intervention: In cases of significant polyp burden or malignancy risk, colectomy may be considered to mitigate cancer risk.

Neurological Management

Surgical Resection: The primary treatment for CNS tumors involves surgical resection, tailored to the tumor type and location.
Adjuvant Therapy: Depending on the tumor type, adjuvant therapies such as chemotherapy or radiotherapy may be employed to manage residual disease.

Genetic and Family Considerations

Genetic Counseling: Plays a crucial role in familial risk assessment and in making informed decisions regarding genetic testing.
Family Screening: Given the hereditary nature of the syndrome, family members may require screening to manage their cancer risk proactively.

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Frequently Asked Questions

1. What are the symptoms of Turcot syndrome?

Symptoms may include colorectal polyps, brain tumors, and neurological symptoms, indicating a genetic condition requiring evaluation and management.

2. What causes Turcot syndrome?

Turcot syndrome is often caused by genetic mutations associated with familial adenomatous polyposis (FAP) and other syndromes that increase cancer risk.

3. How is Turcot syndrome diagnosed?

Diagnosis typically involves family history assessments, genetic testing, and evaluations of polyps or tumors to confirm the presence of the syndrome.