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The hamartomatous polyposis syndromes: a clinical and molecular review.

作者信息

Schreibman Ian Roy, Baker Maria, Amos Christopher, McGarrity Thomas J

机构信息

Division of Gastroenterology and Hepatology, The Milton S. Hershey/Penn State University Medical Center, 500 University Drive, Hershey, PA 17033, USA.

出版信息

Am J Gastroenterol. 2005 Feb;100(2):476-90. doi: 10.1111/j.1572-0241.2005.40237.x.


DOI:10.1111/j.1572-0241.2005.40237.x
PMID:15667510
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.

摘要

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The hamartomatous polyposis syndromes: a clinical and molecular review.

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Clin J Gastroenterol. 2025-5-15

[2]
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Clin Colon Rectal Surg. 2024-7-3

[3]
A Novel Missense Variant of in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations.

Hum Mutat. 2025-2-18

[4]
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Diagnostics (Basel). 2025-3-24

[5]
Multiplex immunohistochemistry reveals histological features of three different intestinal polyp subtypes in pediatric patients.

BMC Pediatr. 2025-3-19

[6]
Pathologic Features of Primary Colon, Rectal, and Anal Malignancies.

Cancer Treat Res. 2024

[7]
Successful treatment of juvenile polyposis of infancy with sirolimus: a case report.

BMC Pediatr. 2024-8-23

[8]
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Hered Cancer Clin Pract. 2023-12-8

[9]
Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern.

Clin J Gastroenterol. 2024-2

[10]
Polyposis found on index colonoscopy in a 56-year-old female - variant in juvenile polyposis syndrome: A case report.

World J Gastrointest Endosc. 2023-10-16

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