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Turcot syndrome: case report and nosological aspects

P Fracasso1, R Caviglia, A Grassi

  • 1Service of Digestive Endoscopy, Istituto Regina Elena, Rome, Italy.

Journal of Experimental & Clinical Cancer Research : CR
|March 20, 1998
PubMed
Summary

Turcot syndrome is a rare genetic condition linking colon polyps and brain tumors. This case highlights a patient with both conditions, underscoring the need for further research into its inheritance patterns.

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Area of Science:

  • Genetics
  • Oncology
  • Neurology

Background:

  • Turcot syndrome is characterized by the co-occurrence of colorectal polyposis and primary brain tumors.
  • The exact mode of genetic transmission (dominant or recessive) for Turcot syndrome remains incompletely understood.
  • This condition presents a diagnostic and management challenge due to the association of two distinct malignancies.

Observation:

  • A 47-year-old male patient presented with a history of colon cancer and polyposis.
  • The patient underwent a right hemicolectomy for cancer and polyposis, preceded by endoscopic polypectomies.
  • A left temporal glioma (brain tumor) was also diagnosed and surgically removed in this patient.

Findings:

  • The presented case exemplifies the simultaneous manifestation of colorectal polyposis and a malignant brain tumor.

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  • This clinical presentation aligns with the definition of Turcot syndrome.
  • The case provides further evidence for the genetic basis of Turcot syndrome, although the specific inheritance pattern requires elucidation.

    • Implications:

    • Further investigation into the genetic underpinnings of Turcot syndrome is warranted to clarify its inheritance patterns.
    • Early diagnosis and comprehensive management strategies are crucial for patients with Turcot syndrome.
    • This case contributes to the understanding of rare cancer predisposition syndromes and their clinical spectrum.