Gastrointestinal Tract, Familial adenomatous polyposis [LMP16327]

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Diagnostic Modality: 
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Disease Category: 
Genetic Disorders
Diagnosis: 
Familial adenomatous polyposis
Species: 
Human
Organ System: 
Gastrointestinal Tract
Gender: 
Male
Age: 
20 years
Diagnosis Code: 
ICD-10: D12.6 | ICD-O: 8220/0
Slide Contributor Information
Martin
Chang

Keywords

Colon, APC gene, FAP

Clinical History

Strong family history of colon cancer in a young male patient.

Clinical Discussion

Familial adenomatous polyposis is a syndrome caused by mutations of the APC gene on Chromosome 5. In its classical form, patients present with hundreds of colonic polyps. These polyps are dysplastic (adenomatous) and are at high risk for transformation to carcinoma. As such, this young patient underwent a total colectomy for cancer prevention.

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