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DOI: 10.1055/a-2109-3140
Management des Peutz-Jeghers-Syndroms
Management of the Peutz-Jeghers Syndrome![](https://www.thieme-connect.de/media/zblchir/202306/lookinside/thumbnails/10-1055-a-2109-3140-1.jpg)
Zusammenfassung
Die wissenschaftliche Evidenz, um das klinische Management des Peutz-Jeghers-Syndroms (PJS) fundiert zu untermauern, ist gering. Hier fassen wir die europäischen Leitlinien zusammen, die von der EHTG (European Hereditary Tumor Group) 2021 publiziert wurden, ergänzt mit seit der Publikation hinzugekommenen, für die klinische Betreuung bedeutsamen neuen Aspekten. Die EHTG hat mit der neuen publizierten Leitlinie [1] die vorangegangene Fassung von 2010 überarbeitet und maßgeblich ergänzt. Hierzu wurde die gesamte vorhandene Literatur systematisch auf Evidenz geprüft und anschließend die Stärke der Empfehlung mit der GRADE-Methode (Grading of Recommendations Assessment, Development and Evaluation) festgelegt. Anschließend erfolgte ein Delphi-Prozess, wobei ein Konsensus dann erreicht wurde, wenn ≥ 80% der stimmberechtigten Mitglieder ein übereinstimmendes Ergebnis erzielten.
Die einzigen weiteren Leitlinien neueren Datums, die das PJS-Management thematisieren, beschränkten sich ausschließlich auf die gastrointestinalen und pankreatischen Manifestationen. Diese Empfehlungen wurden seitens der Leitlinienkommission überprüft und mangels neuerer, relevanter Literatur unverändert übernommen. Zusätzliche, bisher nicht berücksichtigte klinische Aspekte wurden definiert und hinzugenommen und in eine weitere systematische Literatursuche einbezogen. Somit wurden ergänzende und teilweise erstmalig thematisierte Empfehlungen für seltenere assoziierte Manifestationen ergänzt. Es muss festgestellt werden, dass 10 Jahre nach der Vorgängerversion dieser Leitlinien nur wenig neue Evidenz in der Literatur generiert wurde. Wie bei allen seltenen Erkrankungen wird appelliert, nationale und internationale Kooperationsstudien zu planen, um die Fallzahlen zu erhöhen und offene klinische Fragestellungen mit Evidenzen zu belegen, die dann zu einer besseren Patientenversorgung führen. Innerhalb der skizzierten Restriktionen stellen diese europäischen Leitlinien die aktuellste Referenz für die Betreuung von Patienten mit PJS dar.
Abstract
The current evidence to guide management of Peutz-Jeghers Syndrome (PJS) is sparse. Here we summarise the European guidelines that were published in 2021 by the EHTG (European Hereditary Tumour Group), extended with new evidence on some aspects of clinical management that have been generated since then. EHTG with this revised guideline has updated and extended their own previous expert opinion guideline from 2010. For this purpose, all published literature was systematically screened and the level of evidence determined by using the GRADE methodology (Grading of Recommendations Assessment. Development and Evaluation). This was followed by a Delphi process and the consensus for a statement was achieved if the voting committee reached ≥ 80% approval.
The only other more recently published guidelines encountered only addressed the clinical management of gastrointestinal and pancreatic manifestations of PJS. These recommendations were reviewed and adopted, since no further relevant literature was identified in the systematic literature search. However, additional questions were identified and formulated into recommendations after following the described process. It may be stated that 10 years after the predecessor guideline, new evidence has been sparse. As with all rare diseases, a call for more collaborative studies must here be made in order to improve patient management by addressing open clinical questions and generating collaborative evidence with increased case numbers, both nationally and internationally. With the limited published evidence, these European guidelines are the most current reference for management of PJS patients.
Schlüsselwörter
STK11-Mutation - Leitlinie - PJS - Hamartomatöses Polyposis-Syndrom - Peutz-Jeghers-Syndrom - hereditäre KrebsdispositionKeywords
STK11 mutation - guideline - PJS - Peutz-Jeghers-Syndrome - hamartomatous polyposis syndrome - hereditary predisposition to cancerPublication History
Received: 18 February 2023
Accepted after revision: 07 June 2023
Article published online:
05 September 2023
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