Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that characteristically presents with colon cancer in early adult life. We describe a Pakistani FAP family in which two sons had an unusually early manifestation of colorectal cancer. The index patient presented at 11 years of age with abdominal pain, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the colon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endoscopy revealed that polyps had also developed in the duodenum. Multiple biopsies indicated neoplastic lesions. The patient underwent a proctocolectomy and endoscopic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and further adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel examination revealed that his 12-year-old brother was also affected. Conclusion:Children with familial adenomatous polyposis are at risk for colon cancer and emphasise the need for early tumour recognition. Gastrointestinal symptoms in children should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and/or known mutations in cancer-associated genes, particularly in children who are under 10 years of age.
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Abbreviations
- APC :
-
adenomatous polyposis coli
- FAP :
-
familial adenomatous polyposis
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Acknowledgements
We thank Waltraut Friedl, Institute of Human Genetics, University of Bonn for APC gene analyses. We thank Karl-Michael Doering, General Paediatrician, Göttingen for his continuous support in taking care of the affected family.
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Jerkic, S., Rosewich, H., Scharf, JG. et al. Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis. Eur J Pediatr 164, 306–310 (2005). https://doi.org/10.1007/s00431-004-1602-y
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DOI: https://doi.org/10.1007/s00431-004-1602-y