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COLARIS AP® CASE A
The patient is a woman diagnosed with approximately 10 colon adenomas at age 50. She has no family history of any adenomas or cancers. This patient pursued Comprehensive COLARIS AP® due to her diagnosis of multiple colon adenomas. However, no mutation was detected by genetic testing.
Genetic Evaluation
- Based on the no mutation detected result for Comprehensive COLARIS AP®, the likelihood that this patient has an adenomatous polyposis syndrome has been reduced. The negative result leaves us without an explanation for the patient's diagnosis of multiple colon adenomas, and her medical management must be based on her clinical history.
- Further analysis of the MYH gene might be appropriate, especially if the patient is not of European ancestry.
- Further evaluation by a genetics specialist might be appropriate.
Medical Management
For patient:
- Given her personal history of colon adenomas, the patient will continue to have an increased risk of colon cancer and adenomas, as compared to other women her age.
- Colonoscopy is recommended within three years following the diagnosis of colorectal adenomas and polypectomy. The intervals for follow-up colonoscopies will depend upon the number of polyps identified on subsequent exams. If this initial exam is normal, colonoscopy should be repeated in three years. If this is normal, average risk guidelines can be resumed.
- An upper endoscopy may provide additional diagnostic information (i.e., the presence of fundic gland polyps and duodenal adenomas increases the likelihood of an adenomatous polyposis syndrome).
With regard to at-risk relatives:
- For first-degree relatives of the patient, colonoscopic screening should begin by age 40 years or 10 years prior to the earliest diagnosis of adenomatous polyps in the family, whichever is earlier.
- Genetic testing would not be recommended for this patient's relatives, since no mutation was detected in her.
References
- American Cancer Society Guidelines on Screening and Surveillance for the Early Detection of Colorectal Adenomas and Cancer - Women and Men at Increased Risk or High Risk. Available at www.cancer.org. Accessed September 14, 2005.
- NCCN Clinical Practice Guidelines in Oncology. Colon Cancer, v. 4.2005. Available at www.nccn.org. Accessed September 14, 2005.
- Winawer S, Fletcher R, Rex D, et al. (2003) Colorectal cancer screening and surveillance: clinical guidelines and rationale - update based on new evidence. Gastroenterology 124:544-60.
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