D. Polyposis colon

Familial polyposis colon: 

Autosomal dominant disorder with mutation of APC gene.  Has a propensity for malignant transformation 

History: 

25 year-old male presented with bleeding per rectum. 

Key Questions & Answers

1) Describe the gross features of the specimen.

1. Specimen of segment of cut opened large intestine.

2. Mucosal surface shows multiple polyps (>100) of varying sizes. 

2) Diagnose the pathological condition correlating the history & gross features. 

Familial adenomatous polyposis (FAP) 

3) Mention the most common mutated gene in the above condition.  

            APC gene

4) What is the risk associated in the above condition.

Colorectal adenocarcinoma. 

5) What is the preventive measure in the above condition. 

 Prophylactic colectomy