The growing complexity of the intestinal polyposis syndromes

Emanuela Lucci Cordisco, Maurizio Genuardi, Mauro Risio, Tiziana Venesio

Risultato della ricerca: Contributo in rivistaArticolo in rivista

29 Citazioni (Scopus)

Abstract

Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented. Increasing knowledge on the molecular bases and more widespread use of genetic tests has shown phenotypic overlaps between conditions that were previously considered distinct, highlighting diagnostic difficulties. With the advent of next generation sequencing, the diagnosis and the classification of these syndromes will be progressively based more on genetic testing results. However, the phenotypic variability documented among patients with mutations in the same genes cannot be fully explained by different expressivity, indicating a role for as yet unknown modifying factors. Until the latter will be identified, the management of patients with polyposis syndromes should be guided by both clinical and genetic findings.
Lingua originaleEnglish
pagine (da-a)2777-2787
Numero di pagine11
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume161A
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • AFAP
  • FAP
  • MAP
  • PTEN tumor hamartoma syndrome
  • Peutz-Jeghers syndrome
  • cancer risk
  • hereditary mixed polyposis
  • juvenile polyposis
  • molecular pathway
  • serrated polyposis

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