Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis.
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.
Jerkic
Silvija
S
Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.
Rosewich
Hendrik
H
Scharf
Jens-Gerd
JG
Perske
Christina
C
Füzesi
Laszlo
L
Wilichowski
Ekkehard
E
Gärtner
Jutta
J
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
Nat Genet. 2002 Feb;30(2):227-32
11818965
Gastroenterology. 2004 Jul;127(1):9-16
15236166
Nature. 1992 Sep 17;359(6392):235-7
1528264
Cell. 1991 Aug 9;66(3):589-600
1651174
Hum Genet. 1996 Dec;98(6):727-34
8931709
Cell. 1993 Dec 3;75(5):951-7
8252630
N Engl J Med. 1994 Dec 22;331(25):1694-702
7969362
N Engl J Med. 2002 Apr 4;346(14):1085-7
11932478
N Engl J Med. 2003 Mar 6;348(10):919-32
12621137
Hum Genet. 1996 May;97(5):579-84
8655134
Science. 1991 Aug 9;253(5020):665-9
1651563
Gut. 1997 Apr;40(4):521-5
9176082
Am J Hum Genet. 1962 Dec;14:376-90
13946545
J Natl Cancer Inst. 1991 Feb 20;83(4):243-53
1994053