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
05:58

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
PubMed

Insights

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.

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.

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