论文部分内容阅读
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that ch aracteristically presents with colon cancer in early adult life. We describe a P akistani FAP family in which two sons had an unusually early manifestation of co lorectal cancer. The index patient presented at 11 years of age with abdominal p ain, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the co lon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endosc opy revealed that polyps had also developed in the duodenum. Multiple biopsies i ndicated neoplastic lesions. The patient underwent a proctocolectomy and endosco pic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and fu rther adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel exa mination revealed that his 12-year-old brother was also affected. Conclusion: Children with familial adenomatous polyposis are at risk for colon cancer and em phasise the need for early tumour recognition. Gastrointestinal symptoms in chil dren should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and/or kn own mutations in cancer-associated genes, particularly in children who are unde r 10 years of age.
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that ch aracteristically presents with colon cancer in early adult life. We describe a P akistani FAP family in which two sons had an unusually early manifestation of co lorectal cancer. years of age with abdominal painin, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the co lon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endosc opy revealed that polyps had also developed in the duodenum. Multiple biopsies i ndicated The patient underwent a proctocolectomy and endosco pic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and fu rther adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel exa mination revealed that his 12-year-old brother was also affected. Conclusion: Children with familial adenomatous po lyposis are at risk for colon cancer and em phasize the need for early tumor recognition. Gastrointestinal symptoms in chil dren should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and / or kn own mutations in cancer-associated genes, particularly in children who are unde r 10 years of age.