Tijdschrift voor Kindergeneeskunde

, Volume 78, Issue 1, pp 28–33 | Cite as

Familiaire adenomateuze polyposis coli op de kinderleeftijd

  • A.A. Kattentidt-Mouravieva
  • I. van Kessel
  • K. Vanheusden
  • J.C. Escher
  • A. Wagner
  • A. Beishuizen
Article
First Online:

Samenvatting

Familiaire adenomateuze polyposis coli (FAP) is een erfelijke aandoening die gepaard gaat met het ontstaan van honderden tot duizenden darmpoliepen en darmkanker, veroorzaakt door kiembaanmutaties in het APC-gen. Vaak ontstaan poliepen al op de kinderleeftijd en zijn asymptomatisch of geven aspecifieke klachten. Op de kinderleeftijd kan FAP zich echter ook presenteren met extraintestinale verschijnselen. Hier beschrijven we het beloop, de genetische diagnostiek en counseling bij een kind met hepatoblastoom als de eerste uiting van FAP. Vervolgens wordt een overzicht van de medische, genetische en psychosociale aspecten van FAP op de kinderleeftijd gegeven. Het genetisch testen en counseling van ouders en kinderen in verband met FAP vereist specifieke expertise en dient plaats te vinden in een multidisciplinaire setting.

Summary

Familial adenomatous polyposis coli (FAP) is an inherited predisposition to develop hundreds to thousands adenomatous colorectal polyps leading to colorectal cancer, and is caused by germline mutations in the APC-gene. Polyps generally develop in childhood and are often asymptomatic or give aspecific symptoms. However, other extra-intestinal manifestations of FAP may well become manifest in childhood. Here we present a child with hepatoblastoma as the first manifestation of FAP and describe the genetic testing and counseling of him and his brother. An overview of the medical, genetic and psychosocial aspects of FAP in childhood is given. The genetic testing and counseling for FAP in children requires specific expertise and should be provided in a multidisciplinary setting.

This is a preview of subscription content, log in to check access.

Literatuur

  1. 1.
    Fodde R. The multiple functions of tumour suppressors: it's all in APC. Nat Cell Biol. 2003;5:190–2.CrossRefPubMedGoogle Scholar
  2. 2.
    Knudson AG. Two genetic hits (more or less) to cancer. Nat Rev Cancer. 2001;1:157–62.CrossRefPubMedGoogle Scholar
  3. 3.
    Bertario L, Russo A, Sala P, et al. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol. 2003;21:1698–707.CrossRefPubMedGoogle Scholar
  4. 4.
    Croner RS, Brueckl WM, Reingruber B, et al. Age and manifestation related symptoms in familial adenomatous polyposis. BMC Cancer. 2005; 5:24.CrossRefPubMedGoogle Scholar
  5. 5.
    Vasudevan SA, Patel JC,Wesson DE, et al. Severe dysplasia in children with familial adenomatous polyposis: rare or simply overlooked? J Pediatr Surg. 2006;41:658–61.CrossRefPubMedGoogle Scholar
  6. 6.
    Church JM, McGannon E, Burke C, Clark B. Teenagers with familial adenomatous polyposis: what is their risk for colorectal cancer? Dis Colon Rectum. 2002;45:887–9.CrossRefPubMedGoogle Scholar
  7. 7.
    Vasen HF, Möslein G, Alonso A,et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704–13.CrossRefPubMedGoogle Scholar
  8. 8.
    Richtlijn Erfelijke darmkanker 2008. Evidence-based richtlijnontwikkeling.Google Scholar
  9. 9.
    Olsen KO, Juul S, Bülow S, et al. Female fecundity before and after operation for familial adenomatous polyposis. Br J Surg. 2003;90:227–31.CrossRefPubMedGoogle Scholar
  10. 10.
    Durno CA, Gallinger S. Genetic predisposition to colorectal cancer: new pieces in the pediatric puzzle. J Pediatr Gastroenterol Nutr. 2006;43:5–15.CrossRefPubMedGoogle Scholar
  11. 11.
    Attard TM, Cuffari C, Tajouri T, et al. Multicenter experience with upper gastrointestinal polyps in pediatric patients with familial adenomatous polyposis. Am J Gastroenterol. 2004; 99:681–6.CrossRefPubMedGoogle Scholar
  12. 12.
    Chen CS, Phillips KD, Grist S, et al. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. Fam Cancer. 2006;5:397–404.CrossRefPubMedGoogle Scholar
  13. 13.
    Hirschman BA, Pollock BH, Tomlinson GE. The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds. J Pediatr. 2005;147:263–6.CrossRefPubMedGoogle Scholar
  14. 14.
    Aretz S, Koch A, Uhlhaas S, et al. 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. 2006;47:811–8.CrossRefPubMedGoogle Scholar
  15. 15.
    Wehrli BM,Weiss SW, Yandow S, Coffin CM. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am J Surg Pathol. 2001;25:645–51.CrossRefPubMedGoogle Scholar
  16. 16.
    Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer. 2006;5:275–85.CrossRefPubMedGoogle Scholar
  17. 17.
    Bertario L, Russo A, Sala P, et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer. 2001;95:102–7.CrossRefPubMedGoogle Scholar
  18. 18.
    Durno C, Monga N, Bapat B, et al. Does early colectomy increase desmoid risk in familial adenomatous polyposis? Clin Gastroenterol Hepatol. 2007;5:1190–4.CrossRefPubMedGoogle Scholar
  19. 19.
    Chimenos-Kustner E, Pascual M, Blanco I, Finestres F. Hereditary familial polyposis and Gardner's syndrome: contribution of the odontostomatology examination in its diagnosis and a case description. Med Oral Patol Oral Cir Bucal. 2005;10: 402–9.PubMedGoogle Scholar
  20. 20.
    Bisgaard ML, Bulow S. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A. 2006;140:200–4.PubMedGoogle Scholar
  21. 21.
    Attard TM, Giglio P, Koppula S, et al. Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis. Cancer. 2007; 109:761–6.CrossRefPubMedGoogle Scholar
  22. 22.
    Reilly PR, Boshar MF, Holtzman SH. Ethical issues in genetic research: disclosure and informed consent. Nat Genet. 1997;15:16–20.CrossRefPubMedGoogle Scholar
  23. 23.
    Lessick M, Faux S. Implications of genetic testing of children and adolescents. Holist Nurs Pract. 1998;12: 38–46.PubMedGoogle Scholar
  24. 24.
    Wertz DC, Fanos JH, Reilly PR. Testing healthy children and adolescents: recommendations for avoiding harm. Genetic Resour 1994;8(2):16–20.PubMedGoogle Scholar
  25. 25.
    Green M, Solnit AJ. Reactions to the threatened loss of a child: a vulnerable child syndrome. Pediatric Management of the dying child, part III. Pediatrics 1964;34:58–66.PubMedGoogle Scholar
  26. 26.
    Evans C. Genetic counselling: A psychological approach. Cambrdige: Cambridge University Press, 2006.CrossRefGoogle Scholar
  27. 27.
    Codori AM, Petersen GM, Boyd PA, et al. Genetic testing for cancer in children. Short-term psychological effect. Arch Pediatr Adolesc Med. 1996;150:1131–8.PubMedCrossRefGoogle Scholar
  28. 28.
    Codori AM, Zawacki KL, Petersen GM, et al. Genetic testing for hereditary colorectal cancer in children: long-term psychological effects. Am J Med Genet A. 2003;116A:117–28.CrossRefPubMedGoogle Scholar
  29. 29.
    Michie S, Bobrow M, Marteau TM. Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet. 2001;38:519–26.CrossRefPubMedGoogle Scholar
  30. 30.
    Andrews L, Mireskandari S, Jessen J, et al. Impact of familial adenomatous polyposis on young adults: attitudes toward genetic testing, support, and information needs. Genet Med. 2006; 8:697–703.CrossRefPubMedGoogle Scholar
  31. 31.
    Compas BE,Worsham NL, Epping-Jordan JE, et al. When mom or dad has cancer: markers of psychological distress in cancer patients, spouses, and children. Health Psychol. 1994; 13:507–15.CrossRefPubMedGoogle Scholar
  32. 32.
    Borry P, Goffin T, Nys H, Dierickx K. Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists. Eur J Hum Genet. 2007;15:1211–7.CrossRefPubMedGoogle Scholar

Copyright information

© Bohn, Stafleu van Loghum 2010

Authors and Affiliations

  • A.A. Kattentidt-Mouravieva
    • 1
  • I. van Kessel
    • 1
  • K. Vanheusden
    • 1
  • J.C. Escher
    • 1
  • A. Wagner
    • 2
  • A. Beishuizen
    • 3
  1. 1.
  2. 2.afdeling Klinische GeneticaErasmus MCRotterdamThe Netherlands
  3. 3.afdeling KindergeneeskundeErasmus MCRotterdamThe Netherlands

Personalised recommendations