Prospective evaluation of duodenal polyposis progression in familial adenomatous polyposis (FAP)patients, and genotype-phenotype correlation

Suarin, Jean-Christope; Ligneau, Blandine; Leprêtre, Jean; Chavaillon, Annick; Napoléon, Bertrand; Ponchon, Thierry; Chaybialle, Jean-Alain; Hosp, E Herriot

doi:10.1016/s0016-5085(00)84765-4

Cited by 2 publications

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“…In 1989, Spigelman et al published an endoscopic and histological classification system for evaluation of the severity of duodenal adenomatosis, 6 and the Spigelman classification has become the gold standard in several studies of duodenal adenomatosis. [7][8][9][10][11][12][13][14][15][16][17] Regular upper gastrointestinal endoscopic surveillance of polyposis patients has been recommended 17 but detailed knowledge of the course and development of duodenal adenomatosis is a necessary condition to justify such a recommendation.…”

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confidence: 99%

Duodenal adenomatosis in familial adenomatous polyposis

Bülow

Björk

Christensen³

et al. 2004

Gut

357

241

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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.

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confidence: 99%

Duodenal adenomatosis in familial adenomatous polyposis

Bülow

Björk

Christensen³

et al. 2004

Gut

357

241

View full text Add to dashboard Cite

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“…Several studies have tried to identify a genotype-phenotype relation between specific mutation sites of the APC gene and the severity of duodenal adenomatosis but the results have been inconsistent. Five studies indicated correlations with mutations in codon 157-416, 27 codon 279-1309, 28 exon 15, 29 after codon 1400, 30 and exon [10][11][12][13][14][15]31 respectively, whereas two studies found no correlation between mutation sites and the severity of adenomatosis 31 32 or carcinoma development. 17 During the last decades, endoscopic surveillance of the duodenum has been recommended.…”

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confidence: 95%