Sulindac reduces the number and size of colorectal adenomas in patients with familial adenomatous polyposis, but its effect is incomplete, and it is unlikely to replace colectomy as primary therapy.
Patients who underwent genetic tests for familial adenomatous polyposis often received inadequate counseling and would have been given incorrectly interpreted results. Physicians should be prepared to offer genetic counseling if they order genetic tests.
Background: Juvenile polyposis (JP) is an autosomal-dominant syndrome characterised by the development of hamartomatous gastrointestinal polyps and is associated with colorectal cancer. However, the relative and absolute risk of colorectal malignancy in these patients is not known. Methods: The incidence rates of colorectal cancer in patients with JP were compared with that of the general population through person-year analysis with adjustment for demographics. Results: In patients with JP, the RR (95% CI) of colorectal cancer was 34.0 (14.4 to 65.7). Similar risks were noted in both males (30.0, 9.6 to 68.6) and females (43.7, 8.8 to 125). The cumulative life-time risk for colorectal cancer was 38.7%. The mean (SD) age of diagnosis of colorectal cancer was 43.9 (10.4) years. Other gastrointestinal malignancies were not noted in this cohort. Conclusion: Patients with JP have a markedly increased RR and absolute risk for colorectal cancer and require vigilant colorectal surveillance starting at young age. A low threshold for recommending surgery with consideration for removal of the entire colorectum seems warranted. J uvenile polyposis (JP) is an autosomal-dominant syndrome characterised by the development of histopathological juvenile polyps in the gastrointestinal tract. Polyps usually occur by the third decade of life and primarily affect the colorectum.1 Recently, investigators have discovered that germline mutations in the BMPR1A and SMAD4/MADH4 gene cause this disorder in a minority (39%) of patients.2 Also, mutation of the ENG gene may 3 or may not be 4 a cause of early-onset JP. JP has been associated with increased risk of colorectal cancer. Evidence for this concept comes from a limited number of case series and collections of literature case reports, which provide variable estimates of the risk of colorectal cancer.
5-12Also, other malignancies, including gastric, small bowel and pancreatic cancer, have been noted in some studies. However, a formal risk assessment of gastrointestinal cancer in patients with JP has not been reported.The purpose of this study was to define the magnitude of risk for colorectal cancer in patients with JP. The occurrence of colorectal cancer in patients with JP from The Johns Hopkins Polyposis Registry and Clinic, The Johns Hopkins Hospital, Baltimore, Maryland, USA, were compared with the general population of the US through person-year analysis. : (1) at least five juvenile polyps in the colorectum, (2) juvenile polyps throughout the gastrointestinal tract or (3) any number of juvenile polyps in a person with a known family history of juvenile polyps. This study was approved by the Johns Hopkins Joint Committee on Clinical Investigation (institutional review board).A risk assessment for colorectal adenocarcinoma was performed. Computation of person-years at risk for colorectal cancer started on 1 January 1970 and lasted until 1 July 2005. Patients were considered to be at risk from birth until date of diagnosis of colorectal cancer, the date of death or the closing date ...
Background and Aims-Patients with Lynch Syndrome have a high risk for colorectal adenomas and carcinomas. We evaluated the development of colorectal neoplasia in these patients.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.