التفاصيل البيبلوغرافية
| العنوان: |
Peutz-Jeghers syndrome: a systematic review and recommendations for management. |
| المؤلفون: |
Beggs AD; Department of Clinical Genetics, St Georges, University of London, Cranmer Terrace, London, UK., Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV |
| المصدر: |
Gut [Gut] 2010 Jul; Vol. 59 (7), pp. 975-86. |
| نوع المنشور: |
Consensus Development Conference; Journal Article; Systematic Review |
| اللغة: |
English |
| بيانات الدورية: |
Publisher: British Medical Assn Country of Publication: England NLM ID: 2985108R Publication Model: Print Cited Medium: Internet ISSN: 1468-3288 (Electronic) Linking ISSN: 00175749 NLM ISO Abbreviation: Gut Subsets: MEDLINE |
| أسماء مطبوعة: |
Original Publication: London, British Medical Assn. |
| مواضيع طبية MeSH: |
Peutz-Jeghers Syndrome/*diagnosis, Adult ; Aged ; Breast Neoplasms/diagnosis ; Child ; Child, Preschool ; Endoscopy, Gastrointestinal ; Evidence-Based Medicine/methods ; Female ; Gastrointestinal Neoplasms/diagnosis ; Genital Neoplasms, Female/diagnosis ; Genotype ; Humans ; Long-Term Care/methods ; Male ; Mass Screening/methods ; Middle Aged ; Peutz-Jeghers Syndrome/genetics ; Peutz-Jeghers Syndrome/therapy ; Phenotype ; Population Surveillance/methods ; Young Adult |
| مستخلص: |
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. |
| Number of References: |
106 |
| تواريخ الأحداث: |
Date Created: 20100629 Date Completed: 20100722 Latest Revision: 20220419 |
| رمز التحديث: |
20240628 |
| DOI: |
10.1136/gut.2009.198499 |
| PMID: |
20581245 |
| قاعدة البيانات: |
MEDLINE |
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