Open AccessClinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes
Author(s) -
Ophir Gilad,
Guy Rosner,
Naomi Fliss-Isakov,
Sivan Aharon-Kaspi,
Hana Strul,
Nathan Gluck,
Revital Kariv
Publication year - 2019
Publication title -
clinical and translational gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.673
H-Index - 35
ISSN - 2155-384X
DOI - 10.14309/ctg.0000000000000035
Subject(s) - medicine , stk11 , peutz–jeghers syndrome , cowden syndrome , gastroenterology , pten , cancer , adenocarcinoma , pathology , colorectal cancer , oncology , kras , apoptosis , biochemistry , chemistry , pi3k/akt/mtor pathway
Hamartomatous polyposis syndromes (HPS) are rare autosomal-dominant inherited disorders associated with gastrointestinal (GI) tract and other cancers. HPS include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), and phosphatase and tensin homolog hamartomatous tumor syndromes (PHTS). Diagnosis, management, and outcome prediction of HPS pose a clinical challenge. To characterize genotype, phenotype, histology and outcomes of individuals with HPS.