title: [Rare hereditary syndromes associated with polyposis and the development of malignant tumors].
abstract: Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome are genetic diseases characterized by gastrointestinal polyps, extraintestinal manifestations, and autosomal dominant inheritance. The carriers of these diseases from early childhood are at risk for neoplasias at different sites, which are symptomatic at various ages.
  
  
  OBJECTIVE
  to study the clinical organ-specific manifestations in patients with FAP and Peutz-Jeghers, genetics update and possibilities of diagnosis, monitoring, and treatment of these diseases.
  
  
  METHODS
  The authors give the results of their examination and follow-up of children with FAP and Peutz-Jeghers hamartoma-polypous syndrome. In addition, current data from PubMed, Medline (including reviews, original articles and case reports) were used.
  
  
  RESULTS
  The main clinical organ-specific signs of multiple tumors in FAP and Peutz-Jeghers syndrome are shown. Data on the assessment of a risk for malignant tumors at various sites in the affected patients and their family members at different ages are provided. Each of these syndromes has a dissimilar genetic foundation. FAP is caused by the germline mutations in the APC gene, Peutz-Jeghers syndrome is by the STK11 gene, which predispose individuals to specifically associated neoplasias and require different follow-up strategies. Information on a phenotype-genotype correlation may serve as a reference point for the possible severity and various manifestations of a disease. An update on the molecular pathogenesis of these diseases is considered.
  
  
  CONCLUSIONS
  Molecular genetic testing of the genes associated with FAP and Peutz-Jeghers syndromes makes it possible to timely recognize family members at high risk, to plan therapeutic strategy and to affect the course of a disease. The joint participation of pediatricians, proctologists, oncologists, morphologists, geneticists, and molecular biologists is essential to timely recognize the carriers of the syndromes and a better prognosis in these patients.
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: T P
authors.initials: TP
authors.lastname: Kazubskaya
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: V M
authors.initials: VM
authors.lastname: Kozlova
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: M G
authors.initials: MG
authors.lastname: Filippova
authors.affiliation: Research and Clinical Center of Otorhinolaryngology, Federal Biomedical Agency, Moscow, Russia.
authors.forename: E I
authors.initials: EI
authors.lastname: Тrofimov
authors.affiliation: Institute of Oncology of Moldova, Kishinev, Moldova.
authors.forename: N F
authors.initials: NF
authors.lastname: Belev
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: I N
authors.initials: IN
authors.lastname: Sokolova
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: R I
authors.initials: RI
authors.lastname: Tamrazov
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: A I
authors.initials: AI
authors.lastname: Pavlovskaya
authors.affiliation: N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
authors.forename: T T
authors.initials: TT
authors.lastname: Kondratyeva
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases