nach oben

Erschienen in:

07.04.2016 | Original Article

Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate

Erschienen in: Familial Cancer | Ausgabe 3/2016

Einloggen, um Zugang zu erhalten

Abstract

Familial adenomatous polyposis (FAP) is a hereditary condition with a near 100 % lifetime risk of colorectal cancer without prophylactic colectomy. Most patients with FAP have a mutation in the adenomatous polyposis coli gene on chromosome 5q22. This condition frequently presents in children with polyps developing most frequently in the second decade of life and surveillance colonoscopy is required starting at age ten. Polyps are found not only in the colon, but in the stomach and duodenum. Knowledge of the natural history of FAP is important as there are several extra-colonic sequelae which also require surveillance. In infants and toddlers, there is an increased risk of hepatoblastoma, while in teenagers and adults duodenal carcinomas, desmoid tumors, thyroid cancer and medulloblastoma are more common in FAP than in the general population. Current chemopreventive strategies include several medications and natural products, although to this point there is no consensus on the most efficacious and safe agent. Genetic counseling is an important part of the diagnostic process for FAP. Appropriate use and interpretation of genetic testing is best accomplished with genetic counselor involvement as many families also have concerns regarding future insurability or discrimination when faced with genetic testing.

Jemal A, Siegel R, Ward E et al (2008) Cancer Statistics, 2008. CA Cancer J Clin 58:71–96. doi:10.3322/CA.2007.0010 CrossRefPubMed

Boursi B, Sella T, Liberman E, Shapira S, David M, Kazanov D, Arber N, Kraus S (2013) The APC p. I1307 K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. Eur J Cancer 49(17):3680–3685. doi:10.1016/j.ejca.2013.06.040 CrossRefPubMed

Ibrahim A, Barnes DR, Dunlop J, Barrowdale D, Antoniou AC, Berg JN (2014) Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. Eur J Hum Genet 22(11):1330–1333CrossRefPubMedPubMedCentral

Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G (2005) Large deletions of the APC gene in 15 % of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat 25(2):125–134CrossRefPubMed

Kadiyska TK, Todorov TP, Bichev SN, Vazharova RV, Nossikoff AV, Savov AS, Mitev VI (2014) APC promoter 1B deletion in familial polyposis—implications for mutation-negative families. Clin Genet 85(5):452–457. doi:10.1111/cge.12210 CrossRefPubMed

Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C (2009) APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet 76(3):242–255CrossRefPubMed

Jerkic S, Rosewich H, Scharf JG, Perske C, Füzesi L, Wilichowski E, Gärtner J (2005) Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis. Eur J Pediatr 164(5):306–310CrossRefPubMed

Groen EJ, Roos A, Muntinghe FL, Enting RH, de Vries J, Kleibeuker JH, Witjes MJ, Links TP, van Beek AP (2008) Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 15(9):2439–2450CrossRefPubMedPubMedCentral

Nusliha A, Dalpatadu U, Amarasinghe B, Chandrasinghe PC, Deen KI (2014) Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience. BMC Res Notes 18(7):734CrossRef

10.

Kennedy RD, Potter DD, Moir CR, El-Youssef M (2014) The natural history of familial adenomatous polyposis syndrome: a 24 year review of a single center experience in screening, diagnosis, and outcomes. J Pediatr Surg 49(1):82–86CrossRefPubMed

11.

Mallinson EK, Newton KF, Bowen J, Lalloo F, Clancy T, Hill J, Evans DG (2010) The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis. Gut 59(10):1378–1382CrossRefPubMed

12.

Vasen HF, Moslein G, Alonso A et al (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57:704–713CrossRefPubMed

13.

Bertario L, Presciuttini S, Sala P et al (1994) Causes of death and postsurgical survival in familial adenomatous polyposis: results from the Italian Registry. Italian Registry of Familial Polyposis Writing Committee. Semin Surg Oncol 10:225–234CrossRefPubMed

14.

Munck A, Gargouri L, Alberti C et al (2011) Evaluation of guidelines for management of familial adenomatous polyposis in a multicenter pediatric cohort. J Pediatr Gastroenterol Nutr 53:296–302CrossRefPubMed

15.

Mozafar M, Shateri K, Tabatabaey A, Lotfollahzadeh S, Atqiaee K (2014) Familial adenomatous polyposis: ileo-anal pouch versus ileo-rectal anastomosis. Gastroenterol Hepatol Bed Bench 7(4):206–210PubMedPubMedCentral

16.

Ozdemir Y, Kiran RP, Erem HH, Aytac E, Gorgun E, Magnuson D, Remzi FH (2014) Functional outcomes and complications after restorative proctocolectomy and ileal pouch anal anastomosis in the pediatric population. J Am Coll Surg 218(3):328–335CrossRefPubMed

17.

Vitellaro M, Sala P, Signoroni S, Radice P, Fortuzzi S, Civelli EM, Ballardini G, Kleiman DA, Morrissey KP, Bertario L (2014) Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis. Br J Surg 101(5):558–565CrossRefPubMed

18.

Aziz O, Athanasiou T, Fazio VW, Nicholls RJ, Darzi AW, Church J, Phillips RK, Tekkis PP (2006) Meta-analysis of observational studies of ileorectal versus ileal pouch-anal anastomosis for familial adenomatous polyposis. Br J Surg 93(4):407–417CrossRefPubMed

19.

van Duijvendijk P, Vasen HF, Bertario L, Bülow S, Kuijpers JH, Schouten WR, Guillem JG, Taat CW, Slors JF (1999) Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg 3(3):325–330CrossRefPubMed

20.

Sturt NJ, Clark SK (2006) Current ideas in desmoid tumours. Fam Cancer 5(3):275–285. doi:10.1007/s10689-005-5675-1 discussion 287–278 CrossRefPubMed

21.

Clark SK, Neale KF, Landgrebe JC, Phillips RK (1999) Desmoid tumours complicating familial adenomatous polyposis. Br J Surg 86(9):1185–1189CrossRefPubMed

22.

Arvanitis ML, Jagelman DG, Fazio VW, Lavery IC, McGannon E (1990) Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum 33(8):639–642CrossRefPubMed

23.

Durno C, Monga N, Bapat B, Berk T, Cohen Z, Gallinger S (2007) Does early colectomy increase desmoid risk in familial adenomatous polyposis? Clin Gastroenterol Hepatol 5:1190–1194CrossRefPubMed

24.

Bulow S, Bjork J, Christensen IJ et al (2004) Group DAFS Duodenal adenomatosis in familial adenomatous polyposis. Gut 53:381–386CrossRefPubMedPubMedCentral

25.

Kadmon M, Tandara A, Herfarth C (2001) Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. Int J Colorectal Dis 16:63–75CrossRefPubMed

26.

Gallagher MC, Phillips R, Bulow S (2006) Surveillance and management of upper gastrointestinal disease in familial adenomatous polyposis. Fam Cancer 5:263–273CrossRefPubMed

27.

Jasperson KW, Burt RW (1998) APC-associated polyposis conditions. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews^®. University of Washington, Seattle

28.

Spiegelman AD, Williams CB, Talbot IC, Domizio P, Phillips RK (1989) Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 2:783–785CrossRef

29.

Ruys AT, Alderlieste YA, Gouma DJ, Dekker E, Mathus-Vliegen EM (2010) Jejunal cancer in patients with familial adenomatous polyposis. Clin Gastroenterol Hepatol 8(8):731–733. doi:10.1016/j.cgh.2010.04.008 CrossRefPubMed

30.

Alderlieste YA, Rauws EA, Mathus-Vliegen EM, Fockens P, Dekker E (2013) Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis. Fam Cancer 12(1):51–56CrossRefPubMed

31.

Plum N, May A, Manner H, Ell C (2009) Small-bowel diagnosis in patients with familial adenomatous polyposis: comparison of push enteroscopy, capsule endoscopy, ileoscopy, and enteroclysis. Z Gastroenterol 47(4):339–346CrossRefPubMed

32.

Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM (2008) Fundic gland polyp dysplasia is common in familial adenomatous polyposis. Clin Gastroenterol Hepatol 6:180–185CrossRefPubMed

33.

Iida M, Yao T, Itoh H, Watanabe H, Matsui T, Iwashita A, Fujishima M (1988) Natural history of gastric adenomas in patients with familial adenomatosis coli/Gardner’s syndrome. Cancer 61:605–611CrossRefPubMed

34.

Park SY, Ryu JK, Park JH, Yoon H, Kim JY, Yoon YB, Park JG, Lee SH, Kang SB, Park JW, Oh JH (2011) Prevalence of gastric and duodenal polyps and risk factors for duodenal neoplasm in Korean patients with familial adenomatous polyposis. Gut Liver 5:46–51CrossRefPubMedPubMedCentral

35.

Offerhaus GJ, Giardiello FM, Krush AJ, Booker SV, Tersmette AC, Kelley NC, Hamilton SR (1992) The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 102:1980–1982PubMed

36.

Garrean S, Hering J, Saied A, Jani J, Espat NJ (2008) Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. Am Surg 74:79–83PubMed

37.

Hofgartner WT, Thorp M, Ramus MW, Delorefice G, Chey WY, Ryan CK, Takahashi GW, Lobitz JR (1999) Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis. Am J Gastroenterol 94:2275–2281CrossRefPubMed

38.

Aretz S, Koch A, Uhlhaas S, Friedl W, Propping P, von Schweinitz D, Pietsch T (2006) Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatr Blood Cancer 47(6):811–818CrossRefPubMed

39.

Steinhagen E, Hui VW, Levy RA, Markowitz AJ, Fish S, Wong RJ, Sood R, Ochman SM, Guillem JG (2014) Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients. Am J Surg 208(5):764–769CrossRefPubMed

40.

Septer S, Slowik V, Morgan R, Dai H, Attard T (2013) Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hered Cancer Clin Pract 11(1):13CrossRefPubMedPubMedCentral

41.

Attard T, Giglio P, Koppula S et al (2007) Brain tumors in individuals with familial adenomatous polyposis. Cancer 109:761–766CrossRefPubMed

42.

Rauch LB, Erdman SH, Aldrink JH, Ranalli MA, Prasad V, Hoffman RP (2014) Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis. J Pediatr Gastroenterol Nutr 58(2):e19–e20CrossRefPubMed

43.

Chan TA (2002) Nonsteroidal anti-inflammatory drugs, apoptosis, and colon-cancer chemoprevention. Lancet Oncol 3(3):166–174CrossRefPubMed

44.

Manzano A, Pérez-Segura P (2012) Colorectal cancer chemoprevention: is this the future of colorectal cancer prevention? Sci World J 2012:327341CrossRef

45.

Giardiello FM, Hamilton SR, Krush AJ et al (1993) Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 328:1313e16CrossRef

46.

Labayle D, Fischer D, Vielh P, Drouhin F, Pariente A, Bories C et al (1991) Sulindac causes regression of rectal polyps in familial adenomatous polypois. Gastroenterology 101:635–639PubMed

47.

Nugent KP, Farmer KCR, Spigelman AD, Williams CB, Phillips RKS (1993) Randomized controlled trial of the effect of sulindac on duodenal and rectal polyposis and cell proliferation in patients with familial adenomatous polyposis. Br J Surg 80:1618–1619CrossRefPubMed

48.

Giardiello FM, Yang VW, Hylind LM et al (2002) Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 346:1054e9CrossRef

49.

Tsujii M, DuBois RN (1995) Alterations in cellular adhesion and apoptosis in epithelial cells overexpressing prostaglandin endoperoxide synthase 2. Cell 83:493–501CrossRefPubMed

50.

Tsujii M, Kawano S, Tsuji S, Sawaoka H, Hori M, Dubois RN (1998) Cyclooxygenase regulates angiogenesis induced by colon cancer cells. Cell 93:705–716CrossRefPubMed

51.

Bertagnolli MM, Eagle CJ, Zauber AG, Redston M, Solomon SD, Kim K, Tang J, Rosenstein RB, Wittes J, Corle D et al (2006) Celecoxib for the prevention of sporadic colorectal adenomas. New Engl J Med 355(9):873–884CrossRefPubMed

52.

Phillips RK, Wallace MH, Lynch PM, Hawk E, Gordon GB, Saunders BP, Wakabayashi N, Shen Y, Zimmerman S, Godio L, Rodrigues-Bigas M, Su LK, Sherman J, Kelloff G, Levin B, Steinbach G, Fap Study Group (2002) A randomised, double blind, placebo controlled study of celecoxib, a selective cyclooxygenase 2 inhibitor, on duodenal polyposis in familial adenomatous polyposis. Gut 50:857–860CrossRefPubMedPubMedCentral

53.

Arber N, Eagle CJ, Spicak J, Racz I, Dite P, Hajer J, Zavoral M, Lechuga MJ, Gerletti P, Tang J et al (2006) Celecoxib for the prevention of colorectal adenomatous polyps. New Engl J Med 355(9):885–895CrossRefPubMed

54.

Lynch PM, Ayers GD, Hawk E, Richmond E, Eagle C, Woloj M, Church J, Hasson H, Patterson S, Half E, Burke CA (2010) The safety and efficacy of celecoxib in children with familial adenomatous polyposis. Am J Gastroenterol 105:1437–1443CrossRefPubMed

55.

Kim B, Giardiello FM (2011) Chemoprevention in familial adenomatous polyposis. Best Pract Res Clin Gastroenterol 25:607–622CrossRefPubMedPubMedCentral

56.

Calviello G, Serini S, Piccioni E (2007) n-3 polyunsaturated fatty acids and the prevention of colorectal cancer: molecular mechanisms involved. Curr Med Chem 14:3059e69CrossRef

57.

Caygill CPJ, Hill MJ (1995) Fish, n-3 fatty acids and human colorectal and breast cancer mortality. Eur J Cancer Prev 4:329–332CrossRefPubMed

58.

Norat T, Bingham S, Ferrari P, Slimani N, Jenab M, Mazuir M et al (2005) Meat, fish, and colorectal cancer risk: the European prospective investigation into cancer and nutrition. J Natl Cancer Inst 97:906–916CrossRefPubMedPubMedCentral

59.

West NJ, Clark SK, Phillips RKS et al (2010) Eicosapentaenoic acid reduces polyp number and size in familial adenomatous polyposis. Gut 59:918e25CrossRef

60.

Steinbach G, Lynch PM, Phillips RKS et al (2000) The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 342:1946e52CrossRef

61.

Baron JA, Cole BF, Sandler RS, Haile RW, Ahnen D, Bresalier R et al (2003) A randomized trial of aspirin to prevent colorectal adenomas. N Engl J Med 348:891–899CrossRefPubMed

62.

Benamouzig R, Deyra J, Martin A, Girard B, Jullian E, Piednoir B (2003) Daily soluble aspirin and prevention of colorectal adenoma recurrence: one-year results of the APACC trial. Gastroenterology 125:328–336CrossRefPubMed

63.

Ishikawa H, Wakabayashi K, Suzuki S, Mutoh M, Hirata K, Nakamura T, Takeyama I et al (2012) Preventive effects of low-dose aspirin on colorectal adenoma growth in patients with familial adenomatous polyposis: double-blind, randomized clinical trial. Cancer Med 2(1):50–56CrossRef

64.

Burn J, Bishop DT, Chapman PD, Elliott F, Bertario L, Dunlop MG et al (2011) A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res 4:655–665CrossRef

65.

Zhang J, Cao H, Zhang B, Cao H, Xu X, Ruan H, Yi T, Tan L, Qu R, Song G, Wang B, Hu T (2013) Berberine potently attenuates intestinal polyps growth in ApcMin mice and familial adenomatous polyposis patients through inhibition of Wnt signalling. J Cell Mol Med 17(11):1484–1493CrossRefPubMedPubMedCentral

66.

Plummer SM, Holloway KA, Manson MM, Munks RJL, Kaptein A, Farrow S et al (1999) Inhibition of cyclo-oxygenase 2 expression in colon cells by the chemopreventive agent curcumin involves inhibition of NF-κB activation via the NIK/IKK signaling complex. Oncogene 18:6013–6020CrossRefPubMed

67.

Rao CV (2007) Regulation of COX and LOX by curcumin. Adv Exp Med Biol 595:213–226CrossRefPubMed

68.

Mahmoud NN, Carothers AM, Grunberger D, Bilinski RT, Churchill MR, Martucci C et al (2000) Plant phenolics decrease intestinal tumors in an animal model of familial adenomatous polyposis. Carcinogenesis 21:921–927CrossRefPubMed

69.

Cruz-Correa M, Shoskes DA, Sanchez P, Zhao R, Hylind LM, Wexner SD (2006) Combination treatment with curcumin and quercetin of adenomas in familial adenomatous polyposis. Clin Gastroenterol Hepatol 4:1035–1038 PubMed: 16757216 CrossRefPubMed

70.

Velmurugan Balaiya, Singh Rana P, Kaul Nidhi, Agarwal Rajesh, Agarwal Chapla (2010) Dietary feeding of grape seed extract prevents intestinal tumorigenesis in APC min/+ mice. Neoplasia 12:95–102CrossRefPubMedPubMedCentral

71.

Barlow-Stewart K, Keays D (2001) Genetic discrimination in Australia. J Law Med 8(3):250–262

72.

Andrews L, Mireskandari S, Jessen J, Thewes B, Solomon M, Finlay M, Meiser B (2006) Impact of familial adenomatous polyposis on young adults: attitudes toward genetic testing, support, and information needs. Genet Med 8(11):697–703CrossRefPubMed

73.

Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD, Hamilton SR (1997) The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New Engl J Med 336:823–827CrossRefPubMed

74.

Mireskandari S, Sangster J, Meiser B, Thewes B, Groombridge C, Spigelman A, Andrews L (2009) Psychosocial impact of familial adenomatous polyposis on young adults: a qualitative study. J Genet Couns 18(5):409–417CrossRefPubMed

75.

Meiser B (2005) Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psychooncology 14(12):1060–1074CrossRefPubMed

76.

Codori A, Zawacki K, Petersen G et al (2003) Genetic testing for hereditary colorectal cancer in children: long-term psychological effects. Am J Med Genet 116A:117–128CrossRefPubMed

77.

Michie S, Bobrow M, Mareau T (2001) Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet 38:519–526CrossRefPubMedPubMedCentral

Titel: Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate
Publikationsdatum: 07.04.2016
Erschienen in: Familial Cancer / Ausgabe 3/2016
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-016-9905-5

Neu im Fachgebiet Onkologie

25.04.2024 | Nierenkarzinom | Nachrichten

Springer Medizin

Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate

Abstract

Neu im Fachgebiet Onkologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Update Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2016

Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry

Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target

Colonoscopy and chromoscopy in hereditary colorectal cancer syndromes

Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity

Lynch syndrome in South America: past, present and future

Controversies in the surgery of patients with familial adenomatous polyposis and Lynch syndrome

Neu im Fachgebiet Onkologie

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Bei Senioren mit Prostatakarzinom auf Anämie achten!

ICI-Therapie in der Schwangerschaft wird gut toleriert

Update Onkologie