The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposis

Saurin, Jean‐Christophe; Ligneau, Blandine; Ponchon, Thierry; Leprêtre, Jean; Chavaillon, Annick; Napoléon, Bertrand; Chayvialle, Jean‐Alain

doi:10.1067/mge.2002.121882

Cited by 63 publications

(44 citation statements)

References 27 publications

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“…Insgesamt scheint das Wachstumsverhalten der Duodenaladenome langsamer als das von kolorektalen Adenomen zu sein [310,311] und hängt mehr vom zunehmenden Alter (> 40 Jahre zunehmend) als vom initialen Stadium ab [312]. Der Mutationsort (Codon 279 -1309) korreliert mit dem Schweregrad der Polyposis im Duodenum, aber wohl nicht mit der Wahrscheinlichkeit, dass sich hochgradige Dysplasien entwickeln [313,314]. Das Lebenszeitrisiko für ein Duodenalkarzinom beträgt für Patienten mit FAP zwischen 3 und 4 % [315,316] und ist somit bis zu 300-fach höher als in der Normalbevölkerung [317].…”

Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

148

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Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

148

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“…Although it is accepted that certain families may be at increased risk for duodenal malignancy [79,80], the existence of clear genotype/ phenotype correlations remains controversial. Published studies are limited by relatively small sample sizes and provide conflicting reports, with some authors suggesting an association between mutations in specific regions of the APC gene and the severity of duodenal adenomatosis [66,81,82] whilst others have failed to demonstrate any relationship between germ line mutation and disease stage [79,82,83] including cancer risk [84]. Furthermore, in some patients carrying a mutation associated with attenuated colonic disease, the development of foregut polyps has been reported to precede the development of colorectal polyps [85,86].…”

Section: Geneticsmentioning

confidence: 99%

Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

2006

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Almost all patients affected by Familial Adenomatous polyposis (FAP) will develop foregut as well as hindgut polyps, and following prophylactic colectomy duodenal cancer constitutes one of the leading causes of death in screened populations. Without prophylactic colectomy, FAP patients predictably develop colorectal cancer, but the lifetime risk of upper gastrointestinal cancer is lower, estimated at approximately 5%. Management of the upper gastrointestinal cancer risk is one of the greatest challenges facing clinicians involved in the care of Polyposis families, and with improved survival following prophylactic colectomy, the burden of foregut disease (particularly duodenal adenomatosis) will increase. Until recently, the value of upper gastrointestinal surveillance in FAP populations has been contentious, but with improved understanding of the natural history coupled with developments in surgery, interventional endoscopy and medical therapy, treatment algorithms for duodenal adenomatosis in FAP are becoming clearer.

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“…Duodenal polyposis usually progresses in an orderly fashion through increasing Spigelman stage, but cancer can present in patients under surveillance without lower Spigelman stages being identified in their penultimate examinations [1,3,8,9]. There is some evidence that the course of duodenal polyposis can be predicted by the location of the mutation on the APC gene with more severe disease in families with mutations between codons 279 and1309 (a genotype-phenotype correlation) [10]. (Figure 1) Extra-intestinal manifestations include: subcutaneous benign tumors, osteomas, dental abnormalities (identification of mandibular osteomas by panoramic X-rays of the jaws does not disprove or confirm the diagnosis of FAP) -none of which are malignant; soft-tissue (''desmoid'') tumors in the mesentery or areas of surgical scars, or even in areas unrelated to surgery.…”

Section: An Overview Of Clinical Featuresmentioning

confidence: 99%

Familial adenomatous polyposis: the practical applications of clinical and molecular screening

Rozen

Macrae

2006

Familial Cancer

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Familial adenomatous polyposis (FAP) is an autosomal dominant condition mostly due to a mutation of the APC gene on the chromosome 5q. Carriers have an almost 100% chance of developing colorectal cancer after having multiple (typically 100s to 1000s) of adenomatous polyps. It is usually readily identified through this phenotype of multiple adenomas. Correlations between the location of the family-specific mutation on the APC gene and clinical manifestations of the disease are of some assistance in clinical management, though there is heterogeneity in clinical course even between family members with the same mutation. FAP is important to recognize, as there are disease-specific management implications with respect to offering mutational analysis of the APC (and perhaps other) genes for predictive testing of other family members, endoscopic diagnostic procedures, surveillance planning, and surgical management. Extra-colonic manifestations, including duodenal polyposis, desmoid disease and other tumours, can dominate clinical care after colectomy. The inheritable and lethal nature of the disease, together with the availability of effective treatment strategies, makes a sensitive clinical and psychosocial approach important to maximize compliance and good outcomes for all members of affected families.

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The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposis

Cited by 63 publications

References 27 publications

S3-Leitlinie – Kolorektales Karzinom

S3-Leitlinie – Kolorektales Karzinom

Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

Familial adenomatous polyposis: the practical applications of clinical and molecular screening

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