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Published in: Pediatric Surgery International 2/2010

01-02-2010 | Original Article

Immunohistological evidence for Wnt-signaling activation in Peutz-Jeghers polyposis

Authors: Walawee Chaiyapan, Surasak Sangkhathat, Samornmas Kanngurn, Monlika Phukaoloun, Piyawan Chiengkriwate, Sakda Patrapinyokul

Published in: Pediatric Surgery International | Issue 2/2010

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Abstract

Objective

Molecular pathogenesis of gastrointestinal polyposis in Peutz-Jegher’s syndrome (PJS) has been linked to the loss-of-function mutation of LKB1. Recent functional genetic studies have pointed out that LKB1 plays a physiological role in controlling the Wnt-signaling pathway and activation of the pathway as a consequence of LKB1 haploinsufficiency might be responsible for the development of harmatomatous polyps. This study aimed to look for immunohistochemical evidence of Wnt-signaling activation in PJS polyps.

Method

Beta-catenin immunohistochemistry patterns were evaluated in gastrointestinal polyps from five cases of PJS. All patients were also evaluated for germline mutations of LKB1 and somatic mutations of beta-catenin in the polyps.

Results

Four of the five cases had germline mutations of LKB1, including two novel mutations, a one-base insertion at codon 53 and a large deletion encompassing exon 3 (codon 136–155). PJS polyps from all patients showed generalized membrane and cytoplasmic localizations of beta-catenin along the mucosal endothelium. Polyps from two cases with LKB1 mutations revealed moderate-intensity nuclear staining in approximately 20 and 70% of the polyps.

Conclusion

The study offers additional evidence of Wnt-signaling activation in PJS polyp development at the tissue level, although the degree of up-regulation was not as high as has been found in Wnt-associated neoplasms.
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Metadata
Title
Immunohistological evidence for Wnt-signaling activation in Peutz-Jeghers polyposis
Authors
Walawee Chaiyapan
Surasak Sangkhathat
Samornmas Kanngurn
Monlika Phukaoloun
Piyawan Chiengkriwate
Sakda Patrapinyokul
Publication date
01-02-2010
Publisher
Springer-Verlag
Published in
Pediatric Surgery International / Issue 2/2010
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-009-2547-z

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