Turcot Syndrome

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Classification according to ICD-11
2A0Z Other and unspecified neoplasms of the brain or central nervous system
2B90.Y Other specified malignant neoplasms of colon
ICD-11 ( WHO version 2019)

The Turcot syndrome is one by the Canadian surgeon Jacques Turcot named (1914-1977), a rare genetic condition, which is the increased incidence of polyps in the colon and brain tumors is coming.

Mutations in the tumor suppressor gene APC (as in familial adenomatous polyposis ) and in the genes hMLH1 and hPMS2 coding for DNA mismatch repair proteins (as in hereditary non-polypous colorectal carcinoma , HNPCC) have been discovered to be the cause of the development .

The intestinal polyps are precancerous forms of colon cancer . Because of the similarity of the clinical pictures, the treatment is comparable to that of HNPCC.

Compare also: hereditary tumor diseases .

literature

  • J. Turcot, JP Després, F. St. Pierre: Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. In: Dis Colon Rectum . 1959 Sep-Oct; 2, pp. 465-468. PMID 13839882 .
  • L. Dionne: Homage to Doctor Jacques Turcot. In: Can J Surg. 1977 Nov; 20 (6), p. 567. PMID 338132
  • HD Becker, W. Hohenberger, T. Junginger, PM Schlag: Surgical Oncology. Thieme, Stuttgart 2002, ISBN 3-13-126111-0 , pp. 405-406.

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