Monday, December 21, 2009
December 21st - LBJ - Colorectal Carcinoma/Familial Cancer Syndromes
Today at LBJ morning report our first case was of a 37 year old African American Male with Rectal Carcinoma and multiple polyps on colonoscopy. Also, he had multiple hyperpigmented macules scattered throughout his body. This brings up a good point to discuss the various inherited colorectal cancer syndromes that you'll need to know for boards. All together these inherited syndromes are responsible for approximately 10% of cases of Colorectal Cancer in the US (the other 90% are from sporadic polyp formation)
- Another finding is retinal epithelial hyperpigmentation. (This is a favorite one-liner for
- Patients need surveillance sigmoidoscopy/colonoscopy starting at age 10-12, and most
patients undergo prophylactic colectomy by the age of 30.
- All Patients need Genetic Counseling and screening. Surveillance
EGDs and thyroid U/S are recommended
The most recent Amsterdam Criteria establishes the guidelines for suspicion/diagnosis of HNPCC:
One or more of the HNPCC-related cancers diagnosed younger than 50 years
Two successive affected generations
Three or more family members with HNPCC-related cancers
So if your patient fits this criteria, or has synchronous or metachronous colorectal cancer along with any other cancer that is seen in patients with HNPCC - be suspicious that this is occuring!!!
Family members need to be screened, and they have to get colonoscopies starting at age 25. Females get aggressive screening for endometrial cancer, and some clinicians send CA-125 regularly.
- Patients still have an overall increased risk of colorectal
adenocarcinoma, and other malignancies such as
breast, gastric, pancreatic, lung, and many others.