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Familial Adenomatous Polyposis in Children Younger than Age Ten Years: A Multidisciplinary Clinic Experience

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Diseases of the Colon & Rectum

Abstract

Purpose

Children with familial adenomatous polyposis have a greater mortality and morbidity in the first decade of life compared with the general population. Some children with a more severe disease phenotype present early with colorectal adenomata and may require colectomy at an early age. We present our multidisciplinary clinic experience with familial adenomatous polyposis in children younger than age ten years at the time of presentation.

Methods

A cross-sectional analysis was performed on all patients with suspected or confirmed familial adenomatous polyposis presenting in the first decade of life and followed by the multidisciplinary Pediatric Hereditary Polyposis Clinic at our institutions. Analysis included demographics, clinical presentation and course, gene mutation testing, endoscopic-histologic findings, and surgical outcome.

Results

Twenty-two children (11 males) presented with suspected or confirmed familial adenomatous polyposis. Two were discharged from follow-up after negative adenomatous polyposis coli gene mutation testing. The rest underwent annual hepatoblastoma surveillance through age ten years with negative findings. Twelve patients presented with symptoms: six had de novo familial adenomatous polyposis. Seven had gastrointestinal hemorrhage and went on to colonoscopy. Four patients with adenomatous polyposis coli gene mutation at codon 1309 were referred for colectomy before age ten years. Referral to colectomy was earlier in patients with 1309 mutation and with de novo familial adenomatous polyposis.

Conclusions

Children with familial adenomatous polyposis younger than age ten years may present presymptomatically for disease surveillance. Familial adenomatous polyposis with adenomatous polyposis coli gene mutation at codon 1309 entails a risk of a more aggressive phenotype; early colectomy may be indicated in children harboring this gene mutation.

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References

  1. Peterson GM. Knowledge of the adenomatous polyposis coli gene and its clinical application. Ann Med 1994;26:205–8.

    Google Scholar 

  2. Nakamura Y, Lathrop M, Leppert M, et al. Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 1988;43:638–44.

    PubMed  CAS  Google Scholar 

  3. Maher ER, Barton DE, Slatter R, et al. Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. J Med Genet 1993;30:675–8.

    PubMed  CAS  Google Scholar 

  4. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003;362:39–41.

    Article  PubMed  CAS  Google Scholar 

  5. 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.

    Article  PubMed  CAS  Google Scholar 

  6. Sondergaard JO, Bulow S, Jarvinen H, Wolf J, Witt IN, Tetens G. Dental anomalies in familial adenomatous polyposis coli. Acta Odontol Scand 1987;45:61–3.

    Article  PubMed  CAS  Google Scholar 

  7. Valanzano R, Cama A, Volpe R, et al. Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations. Cancer 1996;78:2400–10.

    Article  PubMed  CAS  Google Scholar 

  8. Giardiello FM, Offerhaus GJ, Krush AJ, et al. Risk of hepatoblastoma in familial adenomatous polyposis. J Pediatr 1991;119:766–8.

    Article  PubMed  CAS  Google Scholar 

  9. Distante S, Nasioulas S, Somers GR, et al. Familial adenomatous polyposis in a 5-year-old child: a clinical, pathological and molecular genetic study. J Med Genet 1996;33:157–60.

    PubMed  CAS  Google Scholar 

  10. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology 2001;121:198–213.

    Article  PubMed  CAS  Google Scholar 

  11. Iwama T, Mishima Y. Mortality in young first-degree relatives of patients with familial adenomatous polyposis. Cancer 1994;73:2065–8.

    Article  PubMed  CAS  Google Scholar 

  12. Caspari R, Friedl W, Mandl M, et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994;343:629–32.

    Article  PubMed  CAS  Google Scholar 

  13. Scheenstra R, Rijcken FE, Koornstra JJ, et al. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds. Gut 2003;52:898–9.

    Article  PubMed  CAS  Google Scholar 

  14. Kern WH, White WC. Adenocarcinoma of the colon in a 9-month-old infant. Cancer 1958;11:855–7.

    Article  PubMed  CAS  Google Scholar 

  15. Beroud C, Soussi T. APC gene: database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 1996;24:121–4.

    Article  PubMed  CAS  Google Scholar 

  16. Bertario L, Russo A, Sala P, et al. Hereditary Colorectal Tumor Registry. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 2003;21:1698–707.

    Article  PubMed  CAS  Google Scholar 

  17. Kim JC, Roh SA, Yu CS, et al. Familial juvenile polyposis coli with APC gene mutation. Am J Gastroenterol 1997;92:1913–5.

    PubMed  CAS  Google Scholar 

  18. Tonelli F, Valanzano R, Monaci I, Mazzoni P, Anastasi A, Ficari F. Restorative proctocolectomy or rectum-preserving surgery in patients with familial adenomatous polyposis: results of a prospective study. World J Surg 1997;21:653–8.

    Article  PubMed  CAS  Google Scholar 

  19. Bulow C, Vasen H, Jarvinen H, et al. Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology 2000;119:1454–60.

    Article  PubMed  CAS  Google Scholar 

  20. Gunther K, Braunrieder G, Bifforf BR, Hohenberger W, Matzel KE. Patients with familial adenomatous polyposis experience better bowel function and quality of life after ileorectal anastomosis than after ileoanal pouch. Colorectal Dis 2003;5:38–44.

    Article  PubMed  CAS  Google Scholar 

  21. van Duijvenkijk P, Vasen HF, Bertario L, et al. Cumulative risk of developing polyps or malignancy at the ileal pouch-anal anastomosis in patients with familial adenomatous polyposis. J Gastrointest Surg 1999;3:325–30.

    Article  Google Scholar 

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Correspondence to Thomas M. Attard M.D., F.A.C.G..

Additional information

Supported in part by the Edna Ittner Research Fund.

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Attard, T.M., Tajouri, T., Peterson, K.D. et al. Familial Adenomatous Polyposis in Children Younger than Age Ten Years: A Multidisciplinary Clinic Experience. Dis Colon Rectum 51, 207–212 (2008). https://doi.org/10.1007/s10350-007-9090-6

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  • DOI: https://doi.org/10.1007/s10350-007-9090-6

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