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Phenotypic and molecular characteristics of hyperplastic polyposis
A Rashid1, P S Houlihan, S Booker
1Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Gastroenterology
|August 10, 2000
Summary
Hyperplastic polyposis, characterized by numerous polyps, shows distinct genetic profiles. Some cases involve chromosome 1p loss, suggesting a pathway to colorectal cancer distinct from large or multiple polyps.
Area of Science:
- Gastroenterology and Oncology
- Molecular Pathology of Colorectal Neoplasia
Background:
- Hyperplastic polyposis (HP) is associated with multiple/large hyperplastic polyps (HPs) and increased colorectal cancer (CRC) risk.
- Detailed phenotype and genetic alterations in HP remain understudied.
Purpose of the Study:
- To delineate clinical-pathological and molecular characteristics of HPs in patients with hyperplastic polyposis, large HPs, and multiple HPs.
- To identify distinct phenotypes and genetic alterations associated with different HP presentations and CRC risk.
Main Methods:
- Evaluated 129 HPs, 6 serrated adenomas, and 3 admixed polyps from 13 HP patients, 5 large HP patients, and 5 multiple HP patients.
- Assessed clinical-pathological features, including polyp location and size.
- Analyzed molecular alterations: p21(Waf-1/Cip1) expression, proliferation markers, K-ras mutation, p53 overexpression, microsatellite instability, and chromosome 1p allelic loss.
Main Results:
- Right-sided HPs showed more dysregulated p21(Waf-1/Cip1) expression and proliferation but less chromosome 1p loss compared to left-sided HPs.
- K-ras mutations and microsatellite instability were infrequent in HPs.
- Patients with large HPs had a higher frequency of right-sided HPs and CRC compared to those with multiple HPs. Hyperplastic polyposis was linked to a family history of CRC and chromosome 1p loss in HPs.
Conclusions:
- Three distinct phenotypes of the hyperplastic polyp/dysplasia-to-adenocarcinoma sequence exist.
- Hyperplastic polyposis with chromosome 1p allelic loss in HPs represents one pathway.
- Large, right-sided HPs or small numbers of HPs lacking 1p loss represent other distinct pathways to colorectal cancer.
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