Phenotype and polyp landscape in serrated polyposis syndrome: A series of 100 patients from genetics clinics

Rosty, Christophe, Buchanan, Daniel D., Walsh, Michael D., Pearson, Sally-Ann, Pavluk, Erika, Walters, Rhiannon J., Clendenning, Mark, Spring, Kevin J., Jenkins, Mark A., Win, Aung K., Hopper, John L., Sweet, Kevin, Frankel, Wendy L., Aronson, Melyssa, Gallinger, Steve, Goldblatt, Jack, Woodall, Sonja, Arnold, Julie, Walker, Neal I., Jass, Jeremy R., Parry, Susan and Young, Joanne P. (2012) Phenotype and polyp landscape in serrated polyposis syndrome: A series of 100 patients from genetics clinics. American Journal of Surgical Pathology, 36 6: 876-882. doi:10.1097/PAS.0b013e31824e133f

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Author Rosty, Christophe
Buchanan, Daniel D.
Walsh, Michael D.
Pearson, Sally-Ann
Pavluk, Erika
Walters, Rhiannon J.
Clendenning, Mark
Spring, Kevin J.
Jenkins, Mark A.
Win, Aung K.
Hopper, John L.
Sweet, Kevin
Frankel, Wendy L.
Aronson, Melyssa
Gallinger, Steve
Goldblatt, Jack
Woodall, Sonja
Arnold, Julie
Walker, Neal I.
Jass, Jeremy R.
Parry, Susan
Young, Joanne P.
Title Phenotype and polyp landscape in serrated polyposis syndrome: A series of 100 patients from genetics clinics
Journal name American Journal of Surgical Pathology   Check publisher's open access policy
ISSN 0147-5185
Publication date 2012-06-01
Sub-type Article (original research)
DOI 10.1097/PAS.0b013e31824e133f
Open Access Status DOI
Volume 36
Issue 6
Start page 876
End page 882
Total pages 7
Place of publication Philadelphia, United States
Publisher Lippincott Williams & Wilkins
Language eng
Abstract Serrated polyposis syndrome (SPS), also known as hyperplastic polyposis, is a syndrome of unknown genetic basis defined by the occurrence of multiple serrated polyps in the large intestine and associated with an increased risk of colorectal cancer (CRC). There are a variety of SPS presentations, which may encompass a continuum of phenotypes modified by environmental and genetic factors. To explore the phenotype of SPS, we recorded the histologic and molecular characteristics of multiple colorectal polyps in patients with SPS recruited between 2000 and 2010 from genetics clinics in Australia, New Zealand, Canada, and the United States. Three specialist gastrointestinal pathologists reviewed the polyps, which they classified into conventional adenomas or serrated polyps, with various subtypes, according to the current World Health Organization criteria. Mutations in BRAF and KRAS and mismatch repair protein expression were determined in a subset of polyps. A total of 100 patients were selected for the study, of whom 58 were female and 42 were male. The total polyp count per patient ranged from 6 to 150 (median 30). The vast majority of patients (89%) had polyposis affecting the entire large intestine. From this cohort, 406 polyps were reviewed. Most of the polyps (83%) were serrated polyps: microvesicular hyperplastic polyps (HP) (n=156), goblet cell HP (n=25), sessile serrated adenoma/polyps (SSA/P) (n=110), SSA/P with cytologic dysplasia (n=28), and traditional serrated adenomas (n=18). A further 69 polyps were conventional adenomas. BRAF mutation was mainly detected in SSA/P with dysplasia (95%), SSA/P (85%), microvesicular HP (76%), and traditional serrated adenoma (54%), whereas KRAS mutation was present mainly in goblet cell HP (50%) and in tubulovillous adenoma (45%). Four of 6 SSA/Ps with high-grade dysplasia showed loss of MLH1/PMS2 expression. CRC was diagnosed in 39 patients who were more often found to have a conventional adenoma compared with patients without CRC (P=0.003). Patients with SPS referred to genetics clinics had a pancolonic disease with a high polyp burden and a high rate of BRAF mutation. The occurrence of CRC was associated with the presence of conventional adenoma.
Keyword Serrated polyposis
Colorectal polyps
Colorectal cancer
Hyperplastic polyposis
Braf mutation
Molecular classification
Adenomatous polyposis
Kras mutations
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
School of Medicine Publications
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