A novel APC gene mutation associated with a severe phenotype in a patient with Turcot syndrome

Stephanie A. Fritch Lilla, Joanna S. Yi, Beth A C Hall, Christopher L Moertel

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4 Scopus citations


Turcot syndrome is a rare inherited condition of colonic polyposis associated with central nervous system tumors. We report a patient with a novel adenomatous polyposis coli gene mutation leading to a severe phenotype including medulloblastoma, low-grade fibromyxoid sarcoma following cranial radiation, pilomatrixomas, colonic adenomas, and abdominal desmoid tumor following colectomy, all of which were successfully treated. Multiple tumors may be seen in patients with Turcot syndrome but the occurrence of sarcomas is rare. This case highlights the importance of close follow-up for patients with Turcot syndrome and the importance of a broad differential diagnosis in evaluating a condition in which multiple tumors are frequently seen.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
Issue number3
StatePublished - Apr 2014



  • desmoid tumor
  • familial adenomatous polyposis
  • low-grade fibromyxoid sarcoma
  • medulloblastoma
  • pilomatrixoma
  • Turcot syndrome

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