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Turcot's syndrome. A review.

L Jarvis1, N Bathurst, D Mohan

  • 1Department of Radiodiagnosis, Freedom Fields Hospital, Plymouth, Devon, United Kingdom.

Diseases of the Colon and Rectum
|November 1, 1988
PubMed
Summary

Turcot's syndrome links familial polyposis coli with neural tumors, suggesting a shared genetic cause. Diagnosis requires familial polyposis coli alongside specific brain tumors like gliomas or medulloblastomas.

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Area of Science:

  • Genetics
  • Oncology
  • Neurology

Background:

  • Turcot's syndrome is a rare genetic disorder.
  • It is characterized by the co-occurrence of familial adenomatous polyposis (FAP) and central nervous system (CNS) tumors.

Observation:

  • This review examines the genetic basis, colonic manifestations, and CNS manifestations of Turcot's syndrome.
  • Evidence suggests Turcot's syndrome is a manifestation of a pleiotropic autosomal dominant gene responsible for FAP and Gardner's syndrome.
  • The diagnosis of Turcot's syndrome should be limited to patients with FAP associated with gliomas or medulloblastomas.

Findings:

  • Turcot's syndrome represents a specific phenotype within the spectrum of FAP-associated conditions.
  • The syndrome highlights the complex interplay between gastrointestinal polyposis and neurological tumor development.
  • A case report details the first instance of Turcot's syndrome in the United Kingdom.

Implications:

  • Clarifies diagnostic criteria for Turcot's syndrome, aiding clinical recognition.
  • Enhances understanding of the genetic and phenotypic overlap between FAP, Gardner's syndrome, and Turcot's syndrome.
  • Emphasizes the importance of considering neurological surveillance in patients with FAP.

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