Hamartomatous Polyposis Syndromes: Management and Surveillance Strategies

Authors

  • Jokar, Mohammad Hassan Internal Disease Group, Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan
  • Moradzadeh, Maliheh Molecular Medicine, Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan
  • Sedighi, Sima Internal Disease Group, Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan
Abstract:

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 Syndrome, Bannayan-Riley-Ruvalcaba Syndrome (BRRS), and Proteus Syndrome. Diagnosis of Hamartum polyarthritis syndrome (HPS) is routinely made based on clinical criteria, but sometimes the diagnosis of this syndrome becomes problematic due to the varying severity of clinical symptoms even within a family.Therefore, today, genetic testing of germ-related mutations associated with this disease is used in the diagnosis process. Management strategy of the syndrome is different due to extra-intestinal symptoms and various cancers. Clinical awareness and early diagnosis of HPS is important, so it is recommended to patients and families at risk for genetic counseling and care. Surveillance in children with HPS might prevent intestinal and extra-intestinal disorders, and reduce the risk of intestinal cancer or breast cancer in adults.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

Hamartomatous polyposis syndromes

Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an...

full text

Hamartomatous polyposis syndromes: A review

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS i...

full text

Familial adenomatous polyposis, diagnosis and surveillance strategies: review article

Familial adenomatous polyposis is characterized by over 100 colorectal adenomas in the colorectum. The disease equally affects both sexes, with an incidence estimated at 1.14025-1.8300. The disease is premature in people with familial adenomatous polyposis. Patients suffering from familial adenomatous polyposis have a range of extra-intestinal diseases such as papillae, gastric, small intestine...

full text

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...

full text

Screening and surveillance recommendations for pediatric gastrointestinal polyposis syndromes.

Inherited polyposis syndromes are relatively rare disorders in pediatric gastroenterology practice, even in busy academic settings. It is important, however, for pediatric gastroenterologists to be aware of the serious health risks for children and their families affected by these disorders. The diagnosis of a polyp syndrome is often made in the first or second decade of life, long before the r...

full text

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

CONTEXT Significant proportions of patients with hamartomatous polyposis or with hyperplastic/mixed polyposis remain without specific clinical and molecular diagnosis or present atypically. Assigning a syndromic diagnosis is important because it guides management, especially surveillance and prophylactic surgery. OBJECTIVE To systematically classify patients with unexplained hamartomatous or ...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 28  issue 6

pages  2720- 2733

publication date 2020-08

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

No Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023