Hereditary Bowel Cancer Prevention

  How do patients with hereditary colon cancer and their families receive follow-up and review?  Like sporadic colorectal cancer patients, hereditary colorectal cancer patients should receive follow-up and review after surgery, but the difference is that because hereditary colorectal cancer patients have a high probability of recurrence of bowel cancer and the shortest time can be 11 months (that is, the examination is fine before 11 months, and the bowel cancer is found again after 11 months), we recommend hereditary colorectal cancer patients to review colonoscopy every 1-2 years. Therefore, we suggest that patients with hereditary colon cancer should have their colonoscopy every 1-2 years, while patients with disseminated colon cancer should have their colonoscopy once every 3-5 years if they have no problems with the postoperative bass review.  In addition, because hereditary colorectal cancer is a syndrome, in addition to bowel cancer, other types of cancer are more likely to occur than the general population. Therefore, the review is divided into two main parts: review for bowel cancer and review for extra-intestinal cancer.  Lynch syndrome For patients with Lynch syndrome, compared to the general population, these patients have an elevated lifetime risk for colorectal cancer (10%C80% vs. 5.5%), endometrial cancer (16%C60% vs. 2.7%), and other tumors including gastric and ovarian cancers. The panel developed different follow-up recommendations for patients with different mutation types (MLH1/MSH2, MSH6, and PMS2). For example, individuals carrying the MSH6 and PMS2 mutations have a 10%-22% risk of developing colon cancer by age 70, while those carrying MLH1 and MSH2 have a 40%-80% risk.  If Lynch syndrome with MLH1 or MSH2 mutations is identified, it is recommended that colonoscopy be initiated at 20 to 25 years of age or 2 to 5 years earlier than the youngest diagnosed patient in the family, and in either case, it is recommended that it be repeated every 1 to 2 years. Colonoscopy should be started at 35 to 40 years of age. Of course, screening should be started earlier in some families, depending on the age of the family members who have developed the disease. Screening is recommended every 2-3 years for MSH6 carriers until age 40 and for PMS2 patients until age 50, with subsequent colonoscopies every 1-2 years.  Women with Lynch syndrome have an increased risk of developing endometrial and ovarian cancer (up to 60% and 24%, respectively). One should be alert for associated symptoms (e.g., irregular uterine bleeding). There is no clear evidence to support routine screening for gynecologic tumors. Annual endometrial biopsy is an option for MLH1 or MSH2 mutation carriers. Routine transvaginal ultrasound or serum CA125 testing is not supported because it has not been shown to be sufficiently sensitive or specific.  The lifetime risk of gastric and small bowel cancer in patients with Lynch syndrome varies widely among different populations, and there are no clear data to support screening for gastric, duodenal, or small bowel cancer in patients with Lynch syndrome. For patients with non-MLH1 or MSH2 mutations, esophagogastroduodenoscopy extending to the duodenum or jejunum is recommended for these patients every 3-5 years starting at age 30-35 years. Carriers of MLH1 or MSH2 mutations should be considered for annual urinalysis to screen for uroepithelial carcinoma beginning at age 25-30 years. There are no better screening methods for central nervous system tumors and pancreatic cancer, which are prone to occur in patients with Lynch syndrome, and regular physical examinations are recommended.  Familial adenomatous polyposis For patients who have undergone surgery to preserve the anus or rectum, the remaining rectum and anal canal are at risk for rectal adenoma and cancer. Annual post-operative colonoscopy monitoring is required for early detection of recurrent adenomas. For patients with polyps in the stomach or duodenum, follow-up gastroscopy is recommended once every 1-2 years (severe polyps) or 3-5 years (less severe polyps), depending on the severity of the polyps.  Patients are also at increased risk of developing intra-abdominal sclerosing fibroids, most of which appear within 5 years after colectomy. Therefore, routine abdominal palpation during annual physical examinations is recommended. If there is symptomatic sclerosing fibromatosis in the family, abdominal CT or MRI is recommended 1-3 years after colectomy, followed by 5 to 10 years interval. Abdominal imaging is required immediately if suggestive symptoms are present.