Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study

Abstract

Background and study aims To determine the clinical features associated with advanced duodenal and ampullary adenomas in familial adenomatous polyposis. Secondarily, we describe the prevalence and clinical significance of jejunal polyposis.

Patients and methods This is a single center, prospective study of 62 patients with familial adenomatous polyposis. Duodenal polyposis was classified according to Spigelman and ampullary adenomas were identified. Patients with Spigelman III and IV duodenal polyposis underwent balloon assisted enteroscopy. Predefined groups according to Spigelman and presence or not of ampullary adenomas were related to the clinical variables: gender, age, family history of familial adenomatous polyposis, type of colorectal surgery, and type of colorectal polyposis.

Results Advanced duodenal polyposis was present in 13 patients (21 %; 9 male) at a mean age of 37.61 ± 13.9 years. There was a statistically significant association between family history of the disease and groups according to Spigelman (P = 0.03). Seven unrelated patients (6 male) presented ampullary adenomas at a mean age of 36.14 ± 14.2 years. The association between ampullary adenomas and extraintestinal manifestations was statistically significant in multivariate analysis (P = 0.009). Five endoscopic types of non-ampullary adenoma were identified, showing that lesions larger than 10 mm or with a central depression presented foci of high grade dysplasia. Among 28 patients in 12 different families, a similar Spigelman score was identified; 10/12 patients (83.3 %) who underwent enteroscopy presented small tubular adenomas with low grade dysplasia in the proximal jejunum.

Conclusions Advanced duodenal polyposis phenotype may be predictable from disease severity in a first-degree relative. Ampullary adenomas were independently associated with the presence of extraintestinal manifestations.

Study registration: NCT02656134

• References

• 1 Drini M, Speer A, Dow C. et al. Management of duodenal adenomatosis in FAP: single centre experience. Fam Cancer 2012; 11: 167-173
• 2 Jaganmohan S, Lynch PM, Raju RP. et al. Endoscopic management of duodenal adenomas in familial adenomatous polyposis – a single-center experience. Dig Dis Sci 2012; 57: 732-737
• 3 Jagelman DG, DeCosse JJ, Bussey HJ. Upper gastrointestinal cancer in familial adenomatous polyposis. Lancet 1988; 1: 1149-1151
• 4 Arvanitis ML, Jagelman DG, Fazio VW. et al. Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 639-642
• 5 de Campos FG, Perez RO, Imperiale AR. et al. Evaluating causes of death in familial adenomatous polyposis. J Gastrointest Surg 2010; 14: 1943-1949
• 6 Vasen HF, Möslein G, Alonso A. et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008; 57: 704-713
• 7 Campos FG, Sulbaran M, Safatle-Ribeiro AV. et al. Duodenal adenoma surveillance in patients with familial adenomatous polyposis. World J Gastrointest Endosc 2015; 7: 950-959
• 8 Lopez-Ceron M, van den Broek FJ, Mathus-Vliegen EM. et al. The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc 2013; 77: 542-550
• 9 Saurin JC, Ligneau B, Ponchon T. et al. The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposis. Gastrointest Endosc 2002; 55: 342-347
• 10 Saurin JC, Gutknecht C, Napoleon B. et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol 2004; 22: 493-498
• 11 Balmaña J, Balaguer F, Cervantes A. et al. Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines. Ann Oncol 2013; 24: vi73-80
• 12 Bisgaard ML, Fenger K, Bülow S. et al. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994; 3: 121-125
• 13 Rustin RB, Jagelman DG, McGannon E. et al. Spontaneous mutation in familial adenomatous polyposis. Dis Colon Rectum 1990; 33: 52-55
• 14 Latchford AR, Neale KF, Spigelman AD. et al. Features of duodenal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2009; 7: 659-663
• 15 Sanabria JR, Croxford R, Berk TC. et al. Familial segregation in the occurrence and severity of periampullary neoplasms in familial adenomatous polyposis. Am J Surg 1996; 171: 136-140 ; discussion 140–131
• 16 Mathus-Vliegen EM, Ruys AT, Alderlieste YA. et al. Response to jejunal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 2011; 9: 279-280
• 17 Schlemper RJ, Riddell RH, Kato Y. et al. The Vienna classification of gastrointestinal epithelial neoplasia. Gut 2000; 47: 251-255
• 18 Picasso M, Filiberti R, Blanchi S. et al. The role of chromoendoscopy in the surveillance of the duodenum of patients with familial adenomatous polyposis. Dig Dis Sci 2007; 52: 1906-1909
• 19 Dekker E, Boparai KS, Poley JW. et al. High resolution endoscopy and the additional value of chromoendoscopy in the evaluation of duodenal adenomatosis in patients with familial adenomatous polyposis. Endoscopy 2009; 41: 666-669
• 20 Pittayanon R, Rerknimitr R, Imraporn B. et al. Diagnostic values of dual focus narrow band imaging and probe-based confocal laser endomicroscopy in FAP-related duodenal adenoma. Endosc Int Open 2015; 3: E450-E455
• 21 Saurin JC, Pioche M, Rivory J. Surveillance of duodenal adenomas in familial adenomatous polyposis patients: medical objectives and technical requirements. Endosc Int Open 2015; 3: E456-E457
• 22 Spigelman AD, Williams CB, Talbot IC. et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1989; 2: 783-785
• 23 Groves CJ, Saunders BP, Spigelman AD. et al. Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study. Gut 2002; 50: 636-641
• 24 de Vos tot Nederveen Cappel WH, Järvinen HJ, Björk J. et al. Worldwide survey among polyposis registries of surgical management of severe duodenal adenomatosis in familial adenomatous polyposis. Br J Surg 2003; 90: 705-710
• 25 Church JM, McGannon E, Hull-Boiner S. et al. Gastroduodenal polyps in patients with familial adenomatous polyposis. Dis Colon Rectum 1992; 35: 1170-1173
• 26 Alderlieste YA, Rauws EA, Mathus-Vliegen EM. et al. Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis. Fam Cancer 2013; 12: 51-56
• 27 Iaquinto G, Fornasarig M, Quaia M. et al. Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc 2008; 67: 61-67
• 28 Mönkemüller K, Fry LC, Ebert M. et al. Feasibility of double-balloon enteroscopy-assisted chromoendoscopy of the small bowel in patients with familial adenomatous polyposis. Endoscopy 2007; 39: 52-57
• 29 Sulbaran M, de Moura E, Bernardo W. et al. Overtube-assisted enteroscopy and capsule endoscopy for the diagnosis of small-bowel polyps and tumors: a systematic review and meta-analysis. Endosc Int Open 2016; 4: E151-E163
• 30 Wong RF, Tuteja AK, Haslem DS. et al. Video capsule endoscopy compared with standard endoscopy for the evaluation of small-bowel polyps in persons with familial adenomatous polyposis (with video). Gastrointest Endosc 2006; 64: 530-537