Management Guidelines from Europe

Peutz–Jeghers syndrome: a systematic review and recommendations for Management

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http://diposit.ub.edu/dspace/bitstream/2445/18638/1/578379.pdf

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Peutz–Jeghers syndrome: a systematic review and recommendations for Management

Beggs AD, 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.

Gut. 2010 Jul;59(7):975-86. PubMed PMID: 20581245.

http://gut.bmj.com/content/59/7/975.abstract

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.

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Summary of recommendations for surveillance and follow-up of individuals

with PJS from the group of European   experts who wrote Peutz-Jeghers syndrome: a systematic review and recommendations for  management

Box 1 Summary of recommendations for surveillance and follow-up

General

Annual full blood count (FBC), Liver function testing (LFT)

Annual clinical examination

Genital tract

Annual examination and testicular examination   from birth until 8 years

Testicular ultrasound if abnormalities detected at examination

Cervical smear with LBC three yearly from age 25 years

Gastrointestinal

Baseline OGD/colonoscopy age 8

- Polyps detected, continue three yearly until 50 years

- No polyps detected, repeat age 18 years, then three yearly until   50 years

Colonoscopy 1-2 yearly after age 50 years

VCE every three years from age 8 years

Breast

Monthly self-exam from age 18 years

Annual breast MRI from age 25-50, thereafter annual mammography

Terms:

LBC, liquid-based cytology; MRI, magnetic resonance imaging; OGD, baseline colonoscopy and upper gastrointestinal endoscopy; VCE, video capsule endoscopy

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My notes:

- Three yearly means every three years, not three times per year.

- The authors explain in the article why they don't recommend screening of thyroid, pancreas, lung or female reproductive tract (beyond cervical PAP smears every three years).

- This paper is especially well written because a question is presented, discussed and concluded for nine separate topics. Then the authors end with further discussion and conclusions.

- Among the nine topics is chemoprevention. "Conclusion: There are a number of potentially promising agents for reduction of polyp burden in PJS; however none of these are in routine clinical use. (Evidence level: IIb, Grade of recommendation: B).'

- They also review surveillance evidence from 16 articles in table 5.

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"Peutz-Jeghers syndrome is a clinically diverse disease entity, with multiple neoplastic manifestations and a very high lifetime risk of developing malignancy. The current evidence for surveillance guidelines is weak due to the relative rarity of PJS and the lack of data addressing effectiveness and outcomes from surveillance in PJS.

" Current surveillance guidelines are highly intensive. Several of the surveillance modalities presented here are invasive and the frequency at which they are carried out presents a significant burden for the PJS patient. Surveillance has two purposes in PJS: first, to reduce polyp burden and the likelihood of polyp related complications, particularly intussusception in the young PJS patient; and second, cancer surveillance in the older PJS patient."

My comment: PJS manifests differently in different people - even those in the same family with the same mutation. And it manifests differently throughout an individual's life. Even if there were many more PJS patients, it's unlikely that definite surveillance guidelines could be developed for us as a group.

What if parents of young children focused on polyps and reproductive tract tumors? And adults with PJS broadened their focus to include cancer risk?