Duodenal adenomatosis in familial adenomatous polyposis

Abstract

Background: The prevalence of duodenal carcinoma is much higher in familial adenomatous polyposis (FAP) than in the background population, and duodenal adenomatosis is found in most polyposis patients. Aims: To describe the long term natural history of duodenal adenomatosis in FAP and evaluate if cancer prophylactic surveillance of the duodenum is indicated. Methods: A prospective five nation study was carried out in the Nordic countries and the Netherlands. Patients: A total of 368 patients were examined by gastroduodenoscopy at two year intervals during the period 1990-2001. Results: At the first endoscopy, 238 (65%) patients had duodenal adenomas at a median age of 38 years. Median follow up was 7.6 years. The cumulative incidence of adenomatosis at age 70 years was 90% (95% confidence interval (CI) 79-100%), and of Spigelman stage IV 52% (95% CI 28-76%). The probability of an advanced Spigelman score increased during the study period (p,0.0001) due to an increasing number and size of adenomas. Two patients had asymptomatic duodenal carcinoma at their first endoscopy while four developed carcinoma during the study at a median age of 52 years (range 26-58). The cumulative incidence rate of cancer was 4.5% at age 57 years (95% CI 0.1-8.9%) and the risk was higher in patients with Spigelman stage IV at their first endoscopy than in those with stages 0-III (p,0.01). Conclusions: The natural course of duodenal adenomatosis has now been described in detail. The high incidence and increasing severity of duodenal adenomatosis with age justifies prophylactic examination, and a programme is presented for upper gastrointestinal endoscopic surveillance.

S3-Leitlinie – Kolorektales Karzinom

“…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]. Das Risiko, dass bereits ein invasives Karzinom vorliegt, richtet sich nach der Ausprägung der Duodenalpolyposis.…”

Polipose gastroduodenal em doentes com polipose adenomatosa familiar Pós-Retocolectomia

“…VASEN et al (18) descreveram adenomas duodenais em 90% dos pacientes com PAF, e adenocarcinoma duodenal em 3% a 4%. BULOW et al (2 ), em análise de 368 casos com PAF, encontraram pólipos duodenais em número menor que a dos autores anteriores (65%) e taxa cumulativa de incidência de câncer duodenal de 4,5%.…”

Familial Adenomatous Polyposis

“…While rare in the general population, the risk of duodenal or periampullary cancer is increased several hundred fold in FAP patients [7]. Duodenal polyposis usually progresses in an orderly fashion through increasing Spigelman stage [7], but cancer can present in patients under surveillance with lower Spigelman stages being identified in their penultimate examinations [10][11][12]. Pancreatitis can be the result of ampullary adenoma or as a presentation of malignancy.…”

“…Multiple transcript variants encoding different isoforms have been found for this gene [43]. The MUTYH gene contains 16 exons spanning a region of 11147 bp, but only 15 are coding exons [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16], and it maps to chromosome 1p32-34.…”

“…Around ages 16-18 y patients with FAP should be followed by annual or less frequent colonoscopic examinations (depending on the polyp burden at last colonoscopy) and all significant sized adenomas should be removed if surgery is not contemplated at that time. In addition, both forward-viewing and side-viewing upper tract endoscopies should be performed prior to surgery or every 1 to 5 years depending on the polyp burden and Spigelman stage (Tables 1 and 2) [8,72] to detect gastric but mainly duodenal and periampullary adenomas, respectively.…”