Neoplasm of the Colon: a clinical quiz
A 34-year old male presented with a 3-months history of anorexia, weight loss and rectal bleeding. There was a strong family history of several members with colorectal cancer. Examination was unremarkable except for generalized muscle wasting. Investigations revealed anaemia and a positive faecal blood test. Colonoscopy showed an ulcero-proliferative growth involving the proximal descending colon causing significant luminal narrowing. Biopsy was consistent with adenocarcinoma colon. At endoscopy distal colon also revealed the appearance as in Figure 1.
Figure 1. Endoscopy of distal colon
Q1. What is the endoscopy finding in Figure 1?
Q2. What is the most probable diagnosis?
Q3. What is the genetic abnormality involved?
Q4. What are the variants?
Q5. Name the associated extra-gastrointestinal neoplasms.
Q6. What is the treatment?
A1. Multiple colonic polyps.
A2. Familial adenomatous polyposis coli with carcinoma of the colon.
A3. Mutations involving the Adenomatous Polyposis Coli (APC) gene.
A4. Gardner’s syndrome  which is a rare autosomal dominant condition that consists of a combination of adenomatous colonic polyposis, osteomata of the skull and mandible, epidermoid cysts and cutaneous tumours and Turcot’s syndrome [2, 3], also rare, combines colonic polyposis with intracranial tumours especially medulloblastoma and glioblastoma multiforme).
A5. Hepatoblastoma, papillary carcinoma thyroid, and pancreatic carcinoma.
A6. Total proctocolectomy with ileostomy.
- Randall RW, Jasperson JW. APC-associated Polyposis Conditions. Gene Reviews. July 24, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1345/.
- Turcot Syndrome. Cancer.Net. 2011; http://www.cancer.net/cancer-types/turcot-syndrome. Accessed 8/28/2012.
- Jasperson KW, Burt RW. APC-Associated Polyposis Conditions. Gene Reviews. March 27, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1345