title: Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis.
abstract: OBJECTIVE
  To describe the case of metachronous gastrointestinal stromal tumors in a proband with familial adenomatous polyposis (FAP), carrier of APC gene mutation in codon 1309.
  
  
  METHODS
  The physical examination, genealogical analysis and molecular genetic analysis of peripheral blood in 15-years-old girl with FAP and her sister, were carried out. Macroscopic, standard histological and immunohistochemical study of surgical specimens - intraintestinal tumors of the small intestine in proband was performed.
  
  
  RESULTS
  Extraintestinal manifestations, including congenital abnormalities of facial skeleton, typical for Gardner's syndrome, were observed in the sisters with FAP as the addition symptoms of the disease. Frameshift mutation in codon 1309 in the APC gene was detected in these patients. A rare neoplasia - metachronous gastrointestinal stromal tumor was found in proband 15 months after total colectomy for FAP. This is the third case described in the accessible medical literature.
  
  
  CONCLUSIONS
  The possible role of APC gene mutation in the development of mesenchymal neoplasms is discussed. The study of stromal tumors is important for understanding of their pathogenesis that will enable to develop effective targeted therapy.
authors.affiliation: SI "Institute of Hereditary Pathology of the NAMS of Ukraine", Lviv 79000, Ukraine.
authors.forename: M R
authors.initials: MR
authors.lastname: Lozynska
authors.affiliation: Danylo Halytsky Lviv National Medical University, Lviv 79010, Ukraine.
authors.forename: Y O
authors.initials: YO
authors.lastname: Pospishil
authors.affiliation: Danylo Halytsky Lviv National Medical University, Lviv 79010, Ukraine.
authors.forename: O Y
authors.initials: OY
authors.lastname: Varyvoda
authors.affiliation: Institute of Human Genetics of PAS, Poznan 60-479, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Plawski
authors.affiliation: Lviv Regional Clinical Hospital, Lviv 79010, Ukraine.
authors.forename: O O
authors.initials: OO
authors.lastname: Pretsel
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000293:Adolescent; D015415:Biomarkers; D003062:Codon; D005260:Female; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D017491:Genes, APC; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
chemical_list: D015415:Biomarkers; D003062:Codon