Laboratory Studies
- No laboratory test can determine definitively whether a given patient has a colonic polyp. A stool occult blood test can detect a fraction (20-40%) of colonic polyps that are greater than 10 mm in diameter but can also reflect other causes of gastrointestinal blood loss.
- Anemia is not specific for colonic polyps but can be an indication of their presence.
- A patient with a family history of FAP may inherit a mutation in the APC gene.
- A blood test may detect this heterozygous state.
- Because most APC mutations involve truncations of the protein, an in vitro protein truncation assay has been developed by Powell et al.[3] This assay amplifies segments of APC messenger RNA (mRNA) and expresses the protein parts in vitro to readily detect the truncated products. A positive test finding only indicates susceptibility, not the actual presence of a colonic polyp.
- Genetic testing of blood samples can also detect most cases of hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Despite the name, patients with HNPCC have polyps but many fewer than those patients with APC syndrome.
Imaging Studies
- Air contrast barium enema
- This test can detect larger colonic polyps but can miss smaller ones; it has a low false-positive rate.
- In a study, air contrast barium enema detected only about 50% of colonic polyps greater than 1 cm in diameter.
- Virtual colonoscopy
- This test is performed by CT scanning (or MRI) and has shown promise in research studies, detecting more than 80% of large polyps. In a large, multicenter trial, however, a disappointing sensitivity of only 55% was obtained for colonic polyps 10 mm or larger in diameter.
- Another trial found a detection rate for CT scanning comparable to colonoscopy, although some methodological issues have been raised regarding this study.[4]
- Virtual colonoscopy is beginning to be performed for screening outside research settings on limited numbers of patients. Recent data from such screening suggest that virtual colonoscopy results in removal of far fewer polyps that are less than 1 centimeter in diameter than standard optical colonoscopy.[5] Most small polyps have very benign characteristics at the time of removal and may be clinically insignificant. However, some are presumably precursors to advanced polyps. Therefore, their clinical significance, particularly for screening intervals, needs better definition.
- A main drawback of virtual colonoscopy is that a second procedure, a colonoscopy, is required to remove detected colonic polyps. Whether the radiation exposure from CT scanning may be significant is debated.[6, 7]
- In most methods, a thorough colon preparation is required. Methods are under development to label stool with barium meals, obviating the need for cathartic bowel prep.
Procedures
- Adequate bowel cleansing is necessary prior to many procedures.
- Several preparations are marketed for bowel cleansing (eg, polyethylene glycol 3350 [GoLYTELY, NuLYTELY, HalfLYTELY], magnesium citrate [Citroma], senna [X-Prep]) in preparing patients for gastrointestinal procedures, such as colonoscopy and barium x-ray studies. Recent experience suggests that splitting the preparation in half, with one portion taken the day before the procedure and the second portion taken early on the day of the procedure (eg, completed at least 4-6 h before the procedure) yields more effective cleansing of the right colon.
- Bowel cleansing preparations may be used with various dietary preparations (eg, clear liquid diet the day before surgery or procedure) and are convenient to administer on an outpatient basis. Nonetheless, distaste for or discomfort from the preparation remains a complaint of some patients.
- Flexible sigmoidoscopy
- Flexible sigmoidoscopy is a good screening test and the only procedure or imaging modality to be validated by studies that document a decrease in colorectal cancer mortality. However, this procedure does not examine the entire colon. Studies indicate that the majority of large adenomatous polyps in women will be missed by using flexible sigmoidoscopy alone.
- Screening is usually begun at age 50 years in patients who are at average risk.
- Randomized controlled trials have documented a reduction in mortality from colon cancer in populations screened by flexible sigmoidoscopy. However, studies suggest that about 40% of high-risk proximal adenomas remain undetected when this procedure is used as the primary screening modality.
- Colonoscopy[8]
- Colonoscopy is the preferred test to detect colonic polyps, obtain biopsies, and/or perform endoscopic resection. Sensitivities for large colonic polyps in the 80-90% range have been reported.
- Although flexible sigmoidoscopy and stool tests for occult blood have been the mainstays of screening to prevent colon cancer, some clinicians now favor colonoscopy as a primary screening tool.
- Capsule endoscopy
- An ingestible, camera-equipped capsule was developed as a means of exploring the gastrointestinal tract. Van Gossum et al compared the efficacy of this device with that of a colonoscope in the detection of colorectal polyps, advanced adenomas, and cancer.[9] In a study of 328 patients with known or suspected colonic disease, the authors found that capsule endoscopy had a sensitivity and specificity of 64% and 84%, respectively, for the detection of polyps that were 6 mm or more in size. Sensitivity and specificity for the detection of advanced adenomas were 73% and 79%, respectively. Capsule endoscopy detected 14 of 19 cancers that had been found using colonoscopy.
- The investigators also determined that in patients with good or excellent colon cleanliness, capsule endoscopy's sensitivity was higher for all lesions than it was in individuals whose colon cleanliness was fair or poor. Van Gossum and colleagues concluded that in comparison with colonoscopy, capsule endoscopy has a low sensitivity for the detection of colonic lesions.
- Stool DNA
- Tests have been developed that detect mutant, fragmented, and/or methylated DNA from exfoliated colon tumor cells in stool.
- These tests have shown the ability to detect a substantial fraction of tumors in clinical trials[10] but are expensive and appear to be less sensitive than colonoscopy.
Histologic Findings
Adenomatous polyps are of 3 different histological types, as follows: tubular, villous, and tubulovillous. Adenomatous polyps may show changes of dysplasia, which distinguish them from hyperplastic polyps. The most common benign polyp is hyperplastic.
Staging
Colonic polyps are typically benign. Colonic polyps that contain high-grade dysplasia or microinvasive cancer confined to the mucosa are often termed carcinoma in situ.
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