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The hamartomatous polyposis syndromes: a clinical and molecular review.
Am J Gastroenterol. 2005 Feb; 100(2):476-90.AJ

Abstract

Inherited forms of gastrointestinal cancer have been a major focus of study and advancement over the past decade. Familial adenomatous polyposis and hereditary nonpolyposis colon cancer are the two most common heritable colon cancer syndromes. Inherited polyposis syndromes are characterized by the dominant type of polyp (whether adenomatous or hamartomatous) present and by the polyp's location within the gastrointestinal tract. The hamartomatous polyposis syndromes are characterized by an overgrowth of cells native to the area in which they normally occur. They represent a small but appreciable number of the gastrointestinal inherited cancer predisposition syndromes; it is now known that many of these syndromes carry a substantial risk for developing colon cancer as well as other gastrointestinal and pancreatic cancers. Patients afflicted with these syndromes are also at significant risk for extraintestinal malignancies. Seven inherited hamartomatous polyposis syndromes have been described: familial juvenile polyposis syndrome, Cowden's syndrome, Bannayan-Ruvalcaba-Riley syndrome, Peutz-Jeghers syndrome, basal cell nevus syndrome, neurofibromatosis 1, and multiple endocrine neoplasia syndrome 2B. Hereditary mixed polyposis syndrome is a variant of juvenile polyposis characterized by both hamartomatous and adenomatous polyps. The hamartomatous syndromes occur at approximately 1/10th the frequency of the adenomatous syndromes and account for <1% of colorectal cancer in Northern America. While the diagnosis of these inherited syndromes is primarily clinical, genetic testing is now available for all six syndromes. However, there are a significant number of spontaneous mutations seen in each of the syndromes. The management of these patients necessitates a coordinated multidisciplinary approach. The purpose of this review is to characterize the clinical and pathological features of these syndromes and to review the targets of cancer surveillance. The molecular alterations responsible for the inherited hamartomatous polyposis syndromes will also be discussed.

Authors+Show Affiliations

Division of Gastroenterology and Hepatology, The Milton S. Hershey/Penn State University Medical Center, 500 University Drive, Hershey, PA 17033, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15667510

Citation

Schreibman, Ian Roy, et al. "The Hamartomatous Polyposis Syndromes: a Clinical and Molecular Review." The American Journal of Gastroenterology, vol. 100, no. 2, 2005, pp. 476-90.
Schreibman IR, Baker M, Amos C, et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100(2):476-90.
Schreibman, I. R., Baker, M., Amos, C., & McGarrity, T. J. (2005). The hamartomatous polyposis syndromes: a clinical and molecular review. The American Journal of Gastroenterology, 100(2), 476-90.
Schreibman IR, et al. The Hamartomatous Polyposis Syndromes: a Clinical and Molecular Review. Am J Gastroenterol. 2005;100(2):476-90. PubMed PMID: 15667510.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The hamartomatous polyposis syndromes: a clinical and molecular review. AU - Schreibman,Ian Roy, AU - Baker,Maria, AU - Amos,Christopher, AU - McGarrity,Thomas J, PY - 2005/1/26/pubmed PY - 2005/3/2/medline PY - 2005/1/26/entrez SP - 476 EP - 90 JF - The American journal of gastroenterology JO - Am. J. Gastroenterol. VL - 100 IS - 2 N2 - Inherited forms of gastrointestinal cancer have been a major focus of study and advancement over the past decade. Familial adenomatous polyposis and hereditary nonpolyposis colon cancer are the two most common heritable colon cancer syndromes. Inherited polyposis syndromes are characterized by the dominant type of polyp (whether adenomatous or hamartomatous) present and by the polyp's location within the gastrointestinal tract. The hamartomatous polyposis syndromes are characterized by an overgrowth of cells native to the area in which they normally occur. They represent a small but appreciable number of the gastrointestinal inherited cancer predisposition syndromes; it is now known that many of these syndromes carry a substantial risk for developing colon cancer as well as other gastrointestinal and pancreatic cancers. Patients afflicted with these syndromes are also at significant risk for extraintestinal malignancies. Seven inherited hamartomatous polyposis syndromes have been described: familial juvenile polyposis syndrome, Cowden's syndrome, Bannayan-Ruvalcaba-Riley syndrome, Peutz-Jeghers syndrome, basal cell nevus syndrome, neurofibromatosis 1, and multiple endocrine neoplasia syndrome 2B. Hereditary mixed polyposis syndrome is a variant of juvenile polyposis characterized by both hamartomatous and adenomatous polyps. The hamartomatous syndromes occur at approximately 1/10th the frequency of the adenomatous syndromes and account for <1% of colorectal cancer in Northern America. While the diagnosis of these inherited syndromes is primarily clinical, genetic testing is now available for all six syndromes. However, there are a significant number of spontaneous mutations seen in each of the syndromes. The management of these patients necessitates a coordinated multidisciplinary approach. The purpose of this review is to characterize the clinical and pathological features of these syndromes and to review the targets of cancer surveillance. The molecular alterations responsible for the inherited hamartomatous polyposis syndromes will also be discussed. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/15667510/The_hamartomatous_polyposis_syndromes:_a_clinical_and_molecular_review_ L2 - http://Insights.ovid.com/pubmed?pmid=15667510 DB - PRIME DP - Unbound Medicine ER -