Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Peutz-Jeghers syndrome: a systematic review and recommendations for management

Beggs, A. D., Latchford, A. R., Vasen, H. F. A., Moslein, G., Alonso, A., Aretz, S., Bertario, L., Blanco, I., Bulow, S., Burn, J., Capella, G., Colas, C., Friedl, W., Moller, P., Hes, F. J., Jarvinen, H., Mecklin, J.-P., Nagengast, F. M., Parc, Y., Phillips, R. K. S., Hyer, W., Ponz de Leon, M., Renkonen-Sinisalo, L., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Stormorken, A., Tejpar, S., Thomas, H. J. W., Wijnen, J. T., Clark, S. K. and Hodgson, S. V. 2010. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59 (7) , pp. 975-986. 10.1136/gut.2009.198499

Full text not available from this repository.

Abstract

Peutz–Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype–phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ Group
ISSN: 0017-5749
Last Modified: 20 Oct 2022 08:19
URI: https://orca.cardiff.ac.uk/id/eprint/27927

Citation Data

Cited 488 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item