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Logo of hccpBioMed CentralBiomed Central Web Sitesearchsubmit a manuscriptregisterthis articleHereditary Cancer in Clinical PracticeJournal Front Page
Hered Cancer Clin Pract. 2010; 8(Suppl 1): P8.
Published online 2010 May 25. doi:  10.1186/1897-4287-8-S1-P8
PMCID: PMC2876303

Hyperplastic polyposis syndrome: a call for broader diagnostic criteria



Hyperplastic Polyposis Syndrome (HPS) is a rare disease characterized by multiple or large hyperplastic polyps and carries an approximately 40% lifetime colorectal cancer risk. Although a genetic basis has not been established, HPS is believed to be a heritable syndrome and is diagnosed by clinical criteria as set forth by the World Health Organization (WHO). Based on clinical experience, we hypothesized that WHO criteria may be narrowly restrictive and misses some patients with an increased malignancy risk.


For this study, HPS was defined by meeting at least one of the following criteria: 1) ≥20 HPs anywhere in the colon, 2) ≥5 HPs proximal to the sigmoid colon, 3) ≥2 HPs at least 10mm in size, 4) any HPs and a 1st degree relative with HPS. Colonoscopy and pathology databases were retrospectively reviewed for patients meeting criteria. Patient demographics, colonoscopic findings, and personal and family history of cancer were recorded.


Sixty patients (38 males, 22 females) meeting at least one of the above criteria were included. Only 19 of these 60 patients (32%) also satisfied WHO criteria for HPS. Results are summarized in Table Table1.1. Importantly, of the additional 41 patients only meeting the broader criteria, 27% had a personal history and 44% had family history of colorectal cancer. This group also had extracolonic malignancies including breast, lung, prostate, and testicular cancer.


HPS is associated with a personal and familial risk of colorectal cancer and other malignancies. Applying broader definitions identifies an additional population of patients with increased personal and familial cancer risk. More inclusive criteria should be used until a genetic basis of disease better defines cancer risk.

Articles from Hereditary Cancer in Clinical Practice are provided here courtesy of BioMed Central