title: Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.
authors.forename: Silvija
authors.initials: S
authors.lastname: Jerkic
authors.forename: Hendrik
authors.initials: H
authors.lastname: Rosewich
authors.forename: Jens-Gerd
authors.initials: JG
authors.lastname: Scharf
authors.forename: Christina
authors.initials: C
authors.lastname: Perske
authors.forename: Laszlo
authors.initials: L
authors.lastname: Füzesi
authors.forename: Ekkehard
authors.initials: E
authors.lastname: Wilichowski
authors.forename: Jutta
authors.initials: J
authors.lastname: Gärtner
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000230:Adenocarcinoma / Q000175:diagnosis* / Q000601:surgery; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000601:surgery; D018798:Anemia, Iron-Deficiency / Q000209:etiology; D002277:Carcinoma / Q000175:diagnosis* / Q000601:surgery; D002648:Child; D003113:Colonoscopy; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000601:surgery; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006801:Humans; D008297:Male; D009780:Occult Blood; D010859:Pigmentation Disorders / Q000209:etiology; D035781:Siblings
references.citation: Nat Genet. 2002 Feb;30(2):227-32
references.pmid: 11818965
references.citation: Gastroenterology. 2004 Jul;127(1):9-16
references.pmid: 15236166
references.citation: Nature. 1992 Sep 17;359(6392):235-7
references.pmid: 1528264
references.citation: Cell. 1991 Aug 9;66(3):589-600
references.pmid: 1651174
references.citation: Hum Genet. 1996 Dec;98(6):727-34
references.pmid: 8931709
references.citation: Cell. 1993 Dec 3;75(5):951-7
references.pmid: 8252630
references.citation: N Engl J Med. 1994 Dec 22;331(25):1694-702
references.pmid: 7969362
references.citation: N Engl J Med. 2002 Apr 4;346(14):1085-7
references.pmid: 11932478
references.citation: N Engl J Med. 2003 Mar 6;348(10):919-32
references.pmid: 12621137
references.citation: Hum Genet. 1996 May;97(5):579-84
references.pmid: 8655134
references.citation: Science. 1991 Aug 9;253(5020):665-9
references.pmid: 1651563
references.citation: Gut. 1997 Apr;40(4):521-5
references.pmid: 9176082
references.citation: Am J Hum Genet. 1962 Dec;14:376-90
references.pmid: 13946545
references.citation: J Natl Cancer Inst. 1991 Feb 20;83(4):243-53
references.pmid: 1994053