A father and son with Turcot's syndrome: evidence for autosomal dominant inheritance: report of two cases

Dis Colon Rectum. 1998 Jun;41(6):797-801. doi: 10.1007/BF02236273.

Abstract

Typical Turcot's syndrome is characterized by the association of a brain glioma together with multiple colonic polyposis, in which the number of polypoid lesions is small and the association of colonic cancer occurs at a younger age than in familial adenomatous polyposis. We describe a family in which both the father and his son presented with typical Turcot's syndrome without parental consanguinity. This is the first report of a family that is considered to follow an autosomal dominant inheritance. After reviewing 25 documented cases in which the average age of death was 20.3 years old, it was learned that the major cause of death was brain tumor (76 percent) and the minor cause was colon cancer (16 percent). Patients were very young and, therefore, unlikely to have produced a child before their death. These facts seem to support the theory that Turcot's syndrome is an autosomal dominant disorder.

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adolescent
  • Adult
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Humans
  • Male
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pedigree