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Related Experiment Video

Updated: Jul 3, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Hamartomatous polyposis syndromes.

Daniel Calva¹, James R Howe

¹University of Iowa, Roy J. and Lucille A. Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242-2600, USA.

The Surgical Clinics of North America

|August 2, 2008

Summary

This summary is machine-generated.

Hamartomatous polyposis syndromes, including juvenile polyposis and PTEN hamartoma tumor syndromes, involve gastrointestinal polyps. Early recognition and presymptomatic testing are crucial for managing these rare inherited and acquired disorders.

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Area of Science:

Gastroenterology
Genetics
Oncology

Background:

Hamartomatous polyps were first described in 1957.
Several syndromes are associated with hamartomatous polyps in the GI tract.

Purpose of the Study:

To review hamartomatous polyposis syndromes.
To discuss clinical aspects, molecular pathogenesis, affected systems, cancer risks, and management.

Main Methods:

Literature review of hamartomatous polyposis syndromes.
Synthesis of clinical, molecular, and management data.

Main Results:

Identified syndromes include juvenile polyposis, Peutz-Jeghers, hereditary mixed polyposis, PTEN hamartoma tumor syndromes (Cowden, Bannayan-Riley-Ruvalcaba), and Cronkhite-Canada syndrome.
These syndromes vary in inheritance patterns (autosomal dominant or acquired) and affect multiple organ systems.

Conclusions:

Recognition of these syndromes is vital for preventing patient morbidity and mortality.
Presymptomatic testing is recommended for at-risk individuals.