Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.

Chromoendoscopy: adding color to duodenal polyps

Desmoid Tumors in a Dutch Cohort of Patients With Familial Adenomatous Polyposis

Clinical management and genetics of gastrointestinal polyps in children.

To determine the prevalence of adenomas in ileal pouches from patients with familial adenomatous polyposis (FAP) and to determine whether a correlation exists between the presence of pouch adenomas and duodenal adenomas and the site of the adenomatous polyposis coli gene mutation. Restorative proctocolectomy can markedly reduce the risk of colorectal adenocarcinoma in FAP patients. However, adenomas with the potential to progress to adenocarcinoma can develop in the duodenum, ileum, and continent ileostomy after restorative proctocolectomy. More recently, adenomas have been described in the ileal pouch after ileoanal anastomosis. Pouch endoscopy was offered to 167 patients with FAP who had undergone restorative proctocolectomy between January 1984 and December 1996. Adenomas were found in 35% of the 85 ileal pouches examined. No invasive carcinomas were noted. The risk of developing one or more adenomas at 5, 10, and 15 years was 7%, 35%, and 75%, respectively. Patients with adenomas were more likely to have duodenal and ampullary adenomas. No correlation was detected between adenoma development and the site of the adenomatous polyposis coli mutation. Adenomas are frequently found in the ileal pouch of patients after restorative proctocolectomy for FAP. Regular endoscopic surveillance of the pouch is recommended at a frequency similar to that of upper gastrointestinal endoscopy.

Simple SummaryProctocolectomy with ileal pouch-anal anastomosis is the intervention of choice for ulcerative colitis and familial adenomatous polyposis requiring surgery. However high-grade dysplasia and cancer in the anal transitional zone and ileal pouch after 20 years is estimated to be 2 to 4.5% and 3 to 10% in ulcerative colitis and familial polyposis, respectively. The risk factors for ulcerative colitis are the presence of pre-operative dysplasia or cancer, disease duration > 10 years and severe villous atrophy. For familial polyposis, the risk factors are the number of pre-operative polyps > 1000, surgery with stapled anastomosis and the duration of follow-up. Even if anal transitional zone and ileal pouch cancers seldom occur following proctectomy for ulcerative colitis and familial adenomatous polyposis, the high mortality rate associated with this complication warrants close endoscopic monitoring, mainly every year with pouchoscopy including chromoendoscopy.Proctocolectomy with ileal pouch-anal anastomosis is the intervention of choice for ulcerative colitis and familial adenomatous polyposis requiring surgery. One of the long-term complications is pouch cancer, having a poor prognosis. The risk of high-grade dysplasia and cancer in the anal transitional zone and ileal pouch after 20 years is estimated to be 2 to 4.5% and 3 to 10% in ulcerative colitis and familial polyposis, respectively. The risk factors for ulcerative colitis are the presence of pre-operative dysplasia or cancer, disease duration > 10 years and severe villous atrophy. For familial polyposis, the risk factors are the number of pre-operative polyps > 1000, surgery with stapled anastomosis and the duration of follow-up. In the case of ulcerative colitis, a pouchoscopy should be performed annually if one of the following is present: dysplasia and cancer at surgery, primary sclerosing cholangitis, villous atrophy and active pouchitis (every 5 years without any of these factors). In the case of familial polyposis, endoscopy is recommended every year including chromoendoscopy. Even if anal transitional zone and ileal pouch cancers seldom occur following proctectomy for ulcerative colitis and familial adenomatous polyposis, the high mortality rate associated with this complication warrants endoscopic monitoring.

Inherited Polyposis Syndromes: Molecular Mechanisms, Clinicopathology, and Genetic Testing

A Porcine Model of Familial Adenomatous Polyposis

In familial adenomatous polyposis, the long-term risk of pouch polyposis and potential for pouch cancer are unknown. Our aim was to evaluate prospectively the prevalence, nature, and etiology of pouch ileal adenomas with that of nonpouch ileal adenomas in familial adenomatous polyposis. Sixty patients with familial adenomatous polyposis pouch, 47 familial adenomatous polyposis patients with ileorectal anastomosis, and 20 younger patients with familial adenomatous polyposis who had prophylactic colectomy were examined with videoendoscopy. Adenomatous polyps were found in the pouches of 34 patients (57 percent). A total of 362 polyps were identified (range, 0-50 per patient). A logistic regression model confirmed that there was a significant association between the increasing age of the patient and the presence of pouch adenomas (P < 0.02) and the length of follow-up since pouch surgery (P < 0.05). There was no apparent relationship between the development of pouch adenomas and the severity of either colonic or duodenal polyposis and there were no clear genotype or phenotype correlations. Most polyps were tubular adenomas with mild dysplasia, but 11 patients had more advanced histology, including two patients with large villous adenomas. Nonpouch ileal mucosa was spared from visually observed adenomas, with only 1 of 48 (2 percent) patients with ileorectal anastomosis adenomas and 0 of 20 (0 percent) younger, precolectomy patients having terminal ileal adenomas. However, microadenomas were present on random biopsy in 4 percent to 5 percent of nonpouch ileum. The risk of pouch cancer in familial adenomatous polyposis is unclear, but follow-up periods since surgery remain relatively short. Long-term endoscopic surveillance of familial adenomatous polyposis pouches is thus recommended along with evaluation of potential therapeutic options for pouch adenomas.

Restorative proctocolectomy (RPC) eliminates the risk of colorectal adenocarcinoma in familial adenomatous polyposis (FAP) patients, but desmoid tumors, duodenal, and ileal adenomas can still develop. Our aim was to assess the long-term outcome of FAP patients after RPC. FAP patients who had RPC between 1983 and 1990 were contacted for interview and upper gastrointestinal (GI) and ileal pouch endoscopy. Sixty-two males and 48 females had undergone hand-sewn RPC during this period. One patient died postoperatively (0.9%). Among 96 patients available for a minimal follow-up of 11 years, 7 patients died: 3 from causes unrelated to FAP, 2 from metastatic colorectal cancer, and 2 from mesenteric desmoid tumor (MDT). Thirteen patients had a symptomatic MDT (13.5%). Of 73 patients who had an upper GI endoscopy, 52 developed duodenal and/or ampullary adenomas. Four patients required surgical treatment of their duodenal lesions. Among 54 patients who underwent ileal pouch endoscopy, pouch adenomas were noted in 29. No invasive duodenal or ileal pouch carcinoma were detected. Functional results of RPC were significantly worse in MDT patients. RPC eliminates the risk of colorectal cancer, and close upper GI surveillance may help prevent duodenal malignancy. MDTs are the principal cause of death, once colorectal cancer has been prevented, and the main reason for worsening functional results.

BACKGROUNDThe emergence of restorative total proctocolectomy has significantly reduced the lifetime colorectal cancer risk associated with familial adenomatous polyposis (FAP). However, adenomas may develop in the ileal pouch over time and may even progress to carcinoma. We evaluated the cumulative incidence, time to development, and risk factors associated with ileal pouch adenoma.AIMTo evaluate the cumulative incidence, time to development, and risk factors associated with pouch adenoma.METHODSIn this retrospective, observational study conducted at a tertiary center, 95 patients with FAP who underwent restorative proctocolectomy at our center between 1989 and 2018 were consecutively included. The mean follow-up period was 88 mo.RESULTSPouch adenomas were found in 24 (25.3%) patients, with a median time of 52 mo to their first formation. Tubular adenomas were detected in most patients (95.9%). There were no high-grade dysplasia or malignancies. Of the 24 patients with pouch adenomas, 13 had all detected adenomas removed. Among the 13 patients who underwent complete adenoma removal, four (38.5%) developed recurrence. Among 11 (45.8%) patients with numerous polyps within the pouch, seven (63.6%) exhibited progression of pouch adenoma. The cumulative risks of pouch adenoma development at 5, 10, and 15 years after pouch surgery were 15.2%, 29.6%, and 44.1%, respectively. Severe colorectal polyposis (with more than 1000 polyps) was a significant risk factor for pouch adenoma development (hazard ratio, 2.49; 95% confidence interval: 1.04-5.96; P = 0.041).CONCLUSIONPouch adenomas occur at a fairly high rate in association with FAP after restorative proctocolectomy, and a high colorectal polyp count is associated with pouch adenoma development.

Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis

Diagnosis and management of pouchitis

Hereditary and Familial Colon Cancer

<h3>Introduction</h3> Restorative proctocolectomy results in the formation of a pouch that adapts to a more colonic phenotype. The incidence of cancer of the pouch is thought to be low with most societal guidelines differing on their recommendations for surveillance. We conducted a systematic review with meta-analysis to report the prevalence of cancer in all pouch patients. <h3>Methods</h3> The Embase, Embase classic and PubMed databases were searched between June 1979– June 2021 exploring the prevalence of all types of cancer in patients with a pouch. A random effects model was performed to find the pooled prevalence of pouch cancer. In addition, we also looked for risk factors for pouch cancers. <h3>Results</h3> Forty-six studies were included which reported on 23,705 patients. In 19,964 patients with Ulcerative Colitis (UC) the pooled prevalence of pouch cancer was 0.0030 (95% CI: 0.0016 -0.0055). In 3741 patients with Familial Adenomatous Polyposis (FAP) the pooled prevalence of pouch cancer was 0.01 (95% CI: 0.01 – 0.02). In UC most pouch cancers were found to occur in the pouch body (0.59 (95% CI: 0.29-0.84)). <h3>Conclusions</h3> The findings suggest that the pooled prevalence of pouch cancer in UC is similar to that which was previously published, and this is the first meta-analysis to report a pooled prevalence for pouch cancer in FAP. These findings need to be considered when counselling patients before surgery and when developing surveillance guidelines.

Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study