Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes

نویسندگان

  • Aaron Ryan Huber
  • Jennifer J Findeis-Hosey
  • Christa L Whitney-Miller
چکیده

There are multiple hereditary and non-hereditary polyposis syndromes that were originally categorized as adenomatous or hamartomatous. More recently, serrated polyps and their syndromes have been defined. Nearly all of these syndromes have a risk of colorectal cancer in the individuals and affected family members. Most of these syndromes are associated with extracolonic manifestations, including extracolonic tumors. The major clinical features, genetic mechanisms, and clinical management of Familial Adenomatous Polyposis (FAP), Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), PTEN Hamartoma Syndrome (PTHS), and the more recently described syndromes MUTYH-Associated Polyposis, Hereditary Mixed Polyposis Syndrome, Serrated Polyposis Syndrome, and Polymerase Proofreading Associated Polyposis are summarized in this article. *Corresponding author: Aaron Ryan Huber, University of Rochester Medical Center, Surgical Pathology Unit, 601 Elmwood Avenue, Rochester, NY 14618, USA, Tel: (585) 275-1702; FAX: (585) 276-2802; E-mail: [email protected] Received November 06, 2013; Accepted November 21, 2013; Published November 29, 2013 Citation: Huber AR, Findeis-Hosey JJ, Whitney-Miller CL (2013) Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes J Gastroint Dig Syst 3: 155. doi: 10.4172/2161-069X.1000155 Copyright: © 2013 Huber AR, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Hereditary Hamartomatous Gastrointestinal Polyposis Syndrome

Hamartomas represent localized overgrowth of cells in the parts which are normally associated with polyps, ie. mesenhimal, stromal, endodermal and ectodermal elements. Hamartomatous polyposis syndromes carry a significant risk of developing dysplasia, adenomas, gastrointestinal carcinomas, and pancreatic carcinomas. These syndromes may be classified on the basis of whether they represent heredi...

متن کامل

Hamartomatous Polyposis Syndromes: Management and Surveillance Strategies

Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract.  This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...

متن کامل

Colon polyposis syndromes. Indications to surgery.

Familial polyposis syndromes create a group of hereditary syndromes of gastrointestinal tumours. We shall focus on those, touching mostly large bowels and need radical surgery.

متن کامل

Tumor Susceptibility Genes.

Cancer develops and progresses as the result of accumulated genetic damage or mutations. These mutations are most commonly described as either oncogenes, which positively regulate cell growth, or tumor suppressor genes, which negatively regulate cell growth. When oncogenes are mutated, cell growth signals are enhanced; mutations in tumor suppressor genes lead to a reduction in the level of grow...

متن کامل

Hereditary and familial colon cancer.

Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2013