{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:58Z","timestamp":1740126838186,"version":"3.37.3"},"reference-count":19,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Zentralbl Chir"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Die MUTYH-assoziierte Polyposis (MAP) ist ein sehr seltenes autosomal-rezessiv vererbtes Polyposissyndrom. Urs\u00e4chlich ist eine homozygote oder Compound-heterozygote Keimbahnmutation im MUTYH-Gen. Die MAP ist durch zahlreiche kolorektale Adenome charakterisiert, weiterhin liegt ein erh\u00f6htes Risiko f\u00fcr kolorektale Karzinome (KRK) vor. Jedoch kann der Ph\u00e4notyp sehr variabel sein, bspw. haben Betroffene auch ein erh\u00f6htes Risiko f\u00fcr Polypen des oberen Gastrointestinaltraktes und f\u00fcr die Entwicklung von Duodenalkarzinomen.<\/jats:p><jats:p>In diese Studie wurden 15 Patienten mit Nachweis einer pathogenen MUTYH-Variante eingeschlossen, die am Nationalen Zentrum f\u00fcr erbliche Tumorsyndrome untersucht wurden. Die Ergebnisse der \u00d6sophagogastroduodenoskopien (\u00d6GD) wurden in einer Datenbank prospektiv erfasst in einem Zeitraum vom Jahr 2012 bis zum Jahr 2023.<\/jats:p><jats:p>Mindestens 1 \u00d6GD (Median 4, Spannweite 1\u201315) erfolgte bei 15 Patienten, von denen 7 eine homozygote und 8 eine Compound-heterozygote pathogene MUTYH-Variante tragen. Der \u00dcberwachungszeitraum lag im Median bei 115 Monaten (Spannweite 3\u2013215 Monate). Das mediane Alter zur Erstuntersuchung lag bei 44 (Spannweite 17\u201365) Jahren. Insgesamt erfolgten 72 \u00d6GDs (Median 4; Spannweite 1\u201315). Bei 5 Patienten zeigten sich duodenale Adenome, histologisch zeigten sich in all diesen F\u00e4llen tubul\u00e4re Adenome mit leichtgradiger intraepithelialer Dysplasie (LGIEN). Die Anzahl der insgesamt detektierten Duodenaladenome lag bei 48, die mediane Anzahl betrug 3 (Spannweite 1\u201337). Im \u00dcberwachungszeitraum wurde weder eine hochgradige intraepitheliale Neoplasie (HGIEN) noch ein Duodenalkarzinom detektiert.<\/jats:p><jats:p>Patienten mit einer MUTYH-assoziierten Polyposis sollten in einem interdisziplin\u00e4ren Zentrum f\u00fcr erbliche Tumorerkrankungen betreut werden. In unserer Kohorte zeigten sich mehr Patienten mit Duodenaladenomen im Vergleich zu bisher publizierten Daten. Allerdings konnte durch die erfolgte endoskopische Therapie keine Progression zu HGIEN oder Duodenalkarzinomen beobachtet werden.<\/jats:p>","DOI":"10.1055\/a-2194-0901","type":"journal-article","created":{"date-parts":[[2023,11,23]],"date-time":"2023-11-23T23:32:37Z","timestamp":1700782357000},"page":"502-507","source":"Crossref","is-referenced-by-count":0,"title":["Ergebnisse der endoskopischen Vorsorge und Therapie des Duodenums bei MUTYH-assoziierter Polyposis"],"prefix":"10.1055","volume":"148","author":[{"given":"Sonja","family":"Haas","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik I, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"},{"name":"Nationales Zentrum f\u00fcr erbliche Tumorerkrankungen, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian P.","family":"Strassburg","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik I, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"},{"name":"Nationales Zentrum f\u00fcr erbliche Tumorerkrankungen, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Nattermann","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik I, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"},{"name":"Nationales Zentrum f\u00fcr erbliche Tumorerkrankungen, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9957-8299","authenticated-orcid":false,"given":"Robert","family":"Hueneburg","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik I, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"},{"name":"Nationales Zentrum f\u00fcr erbliche Tumorerkrankungen, Universit\u00e4tsklinikum Bonn, Bonn, 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