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The British Journal of Surgery May 2024Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of...
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
BACKGROUND
Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers.
METHODS
A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%).
RESULTS
One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes.
CONCLUSION
These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.
Topics: Humans; Adenomatous Polyposis Coli; Stomach Neoplasms; Adenocarcinoma; DNA Glycosylases; Neoplastic Syndromes, Hereditary; Europe; Adenomatous Polyps; Polyps
PubMed: 38722804
DOI: 10.1093/bjs/znae070 -
Endoscopy International Open Jun 2024There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating... (Review)
Review
There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating properties of existing endoscopic severity indices for FAP. We searched MEDLINE, EMBASE, and the Cochrane Library from inception to February 2023 to identify randomized controlled trials (RCTs) that utilized endoscopic outcomes or studies that evaluated the operating properties of endoscopic disease severity indices in FAP. A total of 134 studies were included. We evaluated scoring indices and component items of scoring indices, such as polyp count, polyp size, and histology. Partial validation was observed for polyp count and size. The most commonly reported scoring index was the Spigelman classification system, which was used for assessing the severity of duodenal involvement. A single study reported almost perfect interobserver and intra-observer agreement for this system. The InSIGHT polyposis staging system, which was used for assessing colorectal polyp burden, has been partially validated. It showed substantial interobserver reliability; however, the intra-observer reliability was not assessed. Novel criteria for high-risk gastric polyps have been developed and assessed for interobserver reliability. However, these criteria showed a poor level of agreement. Other scoring indices assessing the anal transition zone, duodenal, and colorectal polyps have not undergone validation. There are no fully validated endoscopic disease severity indices for FAP. Development and validation of a reliable and responsive endoscopic disease severity instrument will be informative for clinical care and RCTs of pharmacological therapies for FAP.
PubMed: 38904059
DOI: 10.1055/a-2330-8037 -
European Journal of Epidemiology Sep 2023The colorectal cancer (CRC) and polyps incidentally found in autopsies represent the lesions that have not actually caused problems throughout the lifetime and thus may... (Review)
Review
The colorectal cancer (CRC) and polyps incidentally found in autopsies represent the lesions that have not actually caused problems throughout the lifetime and thus may not need to be removed during screening. This study aimed to investigate the prevalence of incidental CRC (iCRC) and polyps in autopsies of different populations. A systematic search was performed on 19 August 2022 to identify autopsy studies that provided data on prevalence of iCRC, adenomatous polyps, hyperplastic polyps, and/or all polyps combined. The prevalence was pooled with the random-effects model. Subgroup and multivariable meta-regression analyses were conducted to investigate the heterogeneity. Forty-three eligible studies including 59,656 autopsies were identified, with 94% conducted before 1990 when CRC screening was uncommon or not available. The pooled prevalence was 0.7% (95% confidence interval [CI], 0.3-1.2%) for iCRC, 18.4% (95% CI, 13.3-24.1%) for adenomatous polyps, 16.4% (95% CI, 8.7-25.9%) for hyperplastic polyps, 26.3% (95% CI, 15.4-38.8%) for all polyps combined, and 29.9% (95% CI, 14.8-47.6%) for iCRC plus polyps. The prevalence of iCRC was higher (1.2%) in white-predominant populations but lower (0.4%) after excluding low-quality studies. Multivariable analyses showed that the prevalence of polyps was higher in white-predominant populations and higher-quality studies, increased with age, and showed a downward trend from "before 1975" through "after 1985". In conclusion, the prevalence of iCRC in autopsies was not low, considering the average lifetime risk of CRC, while incidental polyps were common. Both varied greatly in different populations. These findings may have implications when weighing the benefits and harms of screening.
Topics: Humans; Autopsy; Prevalence; Qualitative Research; Regression Analysis; Adenomatous Polyps
PubMed: 37634229
DOI: 10.1007/s10654-023-01041-0 -
The American Journal of Gastroenterology Apr 2024Individuals with familial adenomatous polyposis (FAP) have an almost 20% lifetime risk of duodenal adenocarcinoma, currently the leading cause of death in FAP. The... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Individuals with familial adenomatous polyposis (FAP) have an almost 20% lifetime risk of duodenal adenocarcinoma, currently the leading cause of death in FAP. The Spigelman staging system provides guidance on the surveillance intervals and timing of prophylactic surgery. Still, its accuracy in predicting duodenal and papillary cancer development has not been systematically evaluated. We investigated the sensitivity and cancer risk of the Spigelman stages.
METHODS
We performed a systematic review on PubMed, MEDLINE, EMBASE, and Cochrane and used a random-effects model to pool effect sizes.
RESULTS
After removing duplicate entries, we screened 1,170 records and included 27 studies for quantitative analysis. Once duodenal polyposis reaches Spigelman stage IV, the risk of duodenal and papillary cancers increased to 25% (95% confidence interval [CI] 12%-45%). However, the sensitivity of Spigelman stage IV for these cancers was low (51%, 95% CI 42%-60%), especially for papillary adenocarcinoma (39%, 95% CI 16%-68%). We investigated the reasons behind these low values and observed that duodenal cancer risk factors included polyps >10 mm, polyp count >20, and polyps with high-grade dysplasia. Risk factors associated with papillary cancer included a papilla with high-grade dysplasia or >10 mm. The evidence on other risk factors was inconclusive.
DISCUSSION
The current Spigelman staging system had a low sensitivity for duodenal and papillary adenocarcinomas. Two Spigelman variables (duodenal villous histology and polyp count) and the lack of papilla-specific variables likely contributed to the low sensitivity values for duodenal and papillary cancers, respectively. While clinicians may be familiar with its current form, there is an urgent need to update it.
Topics: Humans; Adenomatous Polyposis Coli; Duodenum; Duodenal Neoplasms; Polyps; Risk Factors
PubMed: 38294150
DOI: 10.14309/ajg.0000000000002688 -
Journal of Gastroenterology and... Jan 2024The purpose of this study was to assess evidence on the frequency of polyp surveillance colonoscopies performed earlier than the recommended follow-up intervals in... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND AIM
The purpose of this study was to assess evidence on the frequency of polyp surveillance colonoscopies performed earlier than the recommended follow-up intervals in clinical practice guidelines.
METHODS
A systematic review was performed based on electronic searches in PubMed and Embase. Research articles, letters to the editors, and review articles, published before April 2022, were included. Studies that focused on the intervals of polyp surveillance in adult populations were selected. The Risk Of Bias In Non-randomized Studies of Exposure (ROBINS-E) was used to assess the risk of bias. A meta-analysis was performed with Forest plots to illustrate the results.
RESULTS
In total, 16 studies, comprising 11 172 patients from Australia, Europe, and North America, were included for analysis. The quality of the studies was moderate. Overall, 38% (95% CI: 30-47%) of colonoscopies were undertaken earlier than their respective national clinical guidelines. In risk-stratified surveillance, 10 studies contained data relating to low-risk polyp surveillance intervals and 30% (95% CI: 29-31%) of colonoscopies were performed earlier than recommended. Eight studies contained data relating to intermediate-risk polyp surveillance and 15% (95% CI: 14-17%) of colonoscopies were performed earlier than recommended. One study showed that 6% (95% CI: 4-10%) of colonoscopies performed for high-risk polyp surveillance were performed earlier than recommended.
CONCLUSIONS
A significant proportion of polyp surveillance was performed earlier than the guidelines suggested. This provides evidence of the potential overuse of healthcare resources and the opportunity to improve hospital efficiency.
Topics: Humans; Colorectal Neoplasms; Adenomatous Polyps; Colonoscopy; Polyps; North America; Colonic Polyps
PubMed: 37967829
DOI: 10.1111/jgh.16397 -
Radiology and Oncology Jun 2024Patients with familial adenomatous polyposis (FAP) develop early colorectal adenomas and if left untreated, progression to cancer is an inevitable event. Prophylactic... (Review)
Review
BACKGROUND
Patients with familial adenomatous polyposis (FAP) develop early colorectal adenomas and if left untreated, progression to cancer is an inevitable event. Prophylactic surgery does not prevent further development of cancer in the rectal remnant, rectal cuff in patients with ileal pouch anal anastomosis (IPAA) and even on the ileal mucosa of the pouch body. The aim of this review is to assess long-term rates of cancer and adenoma development in patients with FAP after prophylactic surgery and to summarise current recommendations for endoscopic management and surveillance of these patients.
MATERIALS AND METHODS
A systematic literature search of studies from January 1946 through to June 2023 was conducted using the PRISMA checklist. The electronic database PubMed was searched.
RESULTS
Fifty-four papers involving 5010 patients were reviewed. Cancer rate in the rectal remnant was 8.8-16.7% in the western population and 37% in the eastern population. The cumulative risk of cancer 30 years after surgery was 24%. Mortality due to cancer in the rectal remnant is 1.1-11.1% with a 5-year survival rate of 55%. The adenoma rate after primary IPAA was 9.4-85% with a cumulative risk of 85% 20 years after surgery and a cumulative risk of 12% for advanced adenomas 10 years after surgery. Cumulative risk for adenomas after ileorectal anastomosis (IRA) was 85% after 5 and 100% after 10 years. Adenomas developed more frequently after stapled (33.9-57%) compared to hand-sewn (0-33%) anastomosis. We identified reports of 45 cancers in patients after IPAA of which 30 were in the pouch body and 15 in the rectal cuff or at the anastomosis.
CONCLUSIONS
There was a significant incidence of cancer and adenomas in the rectal remnant and ileal pouch of FAP patients during the long-term follow-up. Regular endoscopic surveillance is recommended, not only in IRA patients, but also in pouch patients after proctocolectomy.
Topics: Humans; Adenomatous Polyposis Coli; Proctocolectomy, Restorative; Colectomy; Adenoma; Prophylactic Surgical Procedures; Colorectal Neoplasms
PubMed: 38860690
DOI: 10.2478/raon-2024-0029 -
Diseases of the Colon and Rectum Jun 2024Patients with familial adenomatous polyposis often require prophylactic colectomy with IPAA to treat or reduce the risk of colorectal neoplasia. However, after surgery,...
BACKGROUND
Patients with familial adenomatous polyposis often require prophylactic colectomy with IPAA to treat or reduce the risk of colorectal neoplasia. However, after surgery, patients are still at some risk of developing pouch polyps and even cancer in both handsewn and stapled anastomoses. Management relies mainly on endoscopic or surgical interventions, whereas chemopreventive agents have a limited role in the management and prevention of pouch neoplasia. Novel endoscopic techniques are evolving and may gradually overtake surgical intervention in selected cases. Because familial adenomatous polyposis is relatively rare, there is a scarcity of data regarding the natural history of pouch polyps and cancer in this population.
OBJECTIVE
This systematic literature review aims to describe the evolution, characteristics, various treatment modalities and their outcomes, and recommended surveillance strategies of pouch neoplasia.
DATA SOURCES
PubMed and Cochrane databases and the International Ileal Pouch Consortium (for expert opinion).
STUDY SELECTION
Studies published between 1990 and 2023 in English were included. Studies reporting neoplastic outcomes of only patients with IBD-related pouch neoplasia were excluded.
MAIN OUTCOME MEASURES
Incidence of pouch neoplasia and its outcomes (successful resections, surgical complications, and mortality).
RESULTS
Thirty-five studies were included.
LIMITATIONS
Most studies focused on patients with IBD-related pouch neoplasia; there were scarce data regarding polyposis patients only. Most cohorts were small and retrospective. Data on interventions were mainly descriptive, and no randomized controlled trials were available.
CONCLUSIONS
Pouch adenomas are common and well managed by endoscopic resections because advanced endoscopic techniques are becoming more available. Additional data are required for defining updated recommendations for either endoscopic or surgical intervention. Pouch cancer is a very rare event and may arise despite surveillance. Continued endoscopic surveillance is key in cancer prevention and early detection. The outcome of cancer cases is poor, and management in a referral center should be advised with tumor board discussions. See video from symposium .
Topics: Humans; Adenomatous Polyposis Coli; Proctocolectomy, Restorative; Colonic Pouches; Colectomy
PubMed: 37878460
DOI: 10.1097/DCR.0000000000003122 -
Journal of Medical Genetics Nov 2023While constitutional pathogenic variants in the gene cause familial adenomatous polyposis, c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate... (Meta-Analysis)
Meta-Analysis
While constitutional pathogenic variants in the gene cause familial adenomatous polyposis, c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi populations. This has led to different country/continental-specific guidelines regarding genetic testing, clinical management and surveillance recommendations for I1307K. A multidisciplinary international expert group endorsed by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), has generated a position statement on the I1307K allele and its association with cancer predisposition. Based on a systematic review and meta-analysis of the evidence published, the aim of this document is to summarise the prevalence of the I1307K allele and analysed the evidence of the associated cancer risk in different populations. Here we provide recommendations on the laboratory classification of the variant, define the role of predictive testing for I1307K, suggest recommendations for cancer screening in I1307K heterozygous and homozygous individuals and identify knowledge gaps to be addressed in future research studies. Briefly, I1307K, classified as pathogenic, low penetrance, is a risk factor for CRC in individuals of Ashkenazi Jewish origin and should be tested in this population, offering carriers specific clinical surveillance. There is not enough evidence to support an increased risk of cancer in other populations/subpopulations. Therefore, until/unless future evidence indicates otherwise, individuals of non-Ashkenazi Jewish descent harbouring I1307K should be enrolled in national CRC screening programmes for average-risk individuals.
Topics: Humans; Genetic Predisposition to Disease; Adenomatous Polyposis Coli; Colorectal Neoplasms; Genes, APC; Risk Factors; Jews
PubMed: 37076288
DOI: 10.1136/jmg-2022-108984 -
Experimental and Clinical... Dec 2023Colorectal canceris the third most common cancer worldwide, and kidney transplant patients have up to a 2.5-fold increased risk of colorectal cancer compared with the... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Colorectal canceris the third most common cancer worldwide, and kidney transplant patients have up to a 2.5-fold increased risk of colorectal cancer compared with the general population. Presently, colorectal cancer screening recommendations in kidney transplant candidates are the same as for the general population. We explored the literature on the prevalence of colonic polyps in patients with renal failure undergoing screening colonoscopy as part of kidney transplant evaluation.
MATERIALS AND METHODS
We conducted a systematic review in PubMed, Embase, and Cochrane databases from inception through June 2023 to identify studies that explored the prevalence of colonic polyps in patients with chronic kidney disease undergoing a screening colonoscopy as part of their pretransplant evaluation.
RESULTS
Of 937 patients, 371 had ≥1 polyp on their screening colonoscopy (39.6%; 95% CI, 29.3%-50.3%), 243 patients had ≥1 adenoma (25.9%; 95% CI, 14.3%- 39.6%), and 75 had ≥1 high-risk adenoma (8.7%; 95% CI, 6.9%-10.7%). Pooled analysis of the 2 studies comparing patients with end-stage renal disease versus matched control groups indicated higher pooled prevalence of adenomas in the end-stage renal disease group (33.4%) versus the control group (23.9%).
CONCLUSIONS
Our results suggest an average or increased prevalence of polyps and adenomatous polyps in patients with chronic kidney disease undergoing colonoscopy during evaluation for kidney transplant. The pooled analysis of the studies comparing the end-stage renal disease population versus a matched control group indicates higher prevalence of adenomatous polyps in patients with end-stage renal disease. Multiple studies have shown that screening colonoscopy in this patient group is safe and does not delay kidney transplant evaluation or waitlistrates; hence, screening colonoscopy should be routinely considered.
Topics: Humans; Colonic Polyps; Kidney Transplantation; Prevalence; Kidney Failure, Chronic; Renal Insufficiency, Chronic; Adenomatous Polyps; Adenoma
PubMed: 38263779
DOI: 10.6002/ect.2023.0282 -
Diseases of the Colon and Rectum Jun 2024Restorative proctocolectomy and IPAA have become the surgical procedure of choice in pediatric patients with medically refractory colitis or familial adenomatous...
BACKGROUND
Restorative proctocolectomy and IPAA have become the surgical procedure of choice in pediatric patients with medically refractory colitis or familial adenomatous polyposis.
OBJECTIVE
This systematic review aims to assess the diagnosis and treatment of pouch disorders in pediatric patients who undergo IPAA.
DATA SOURCES
A literature search was performed using MEDLINE, Google Scholar, and Embase for all publications describing outcomes of pediatric IPAA.
STUDY SELECTION
Studies between January 1, 2000, and September 7, 2022, published in English were included. Studies were excluded on the basis of title, abstract, and full-length review.
INTERVENTIONS
IPAA.
MAIN OUTCOME MEASURES
Pouch disorders described include anastomotic leaks, pouch strictures, pouch failure, pouchitis, cuffitis, and de novo Crohn's disease of the pouch.
RESULTS
Thirty-three studies were included in this review, all of which were retrospective in nature. The outcomes of 2643 pediatric patients were included in the 33 studies.
LIMITATIONS
Management is largely informed by clinical practices in adult patients with scant data on treatment efficacy in children.
CONCLUSIONS
The reported incidence of disorders of the pouch in children varies widely and is likely attributable to differences in definitions and follow-up periods across studies. Pouchitis was the most frequently described outcome. The overall rate of pouch failure in children is relatively low, with de novo Crohn's disease of the pouch being the most significant risk factor. Multicenter prospective studies are needed in the pediatric population to accurately identify risk factors, standardize the assessment of pouch complications, and determine effective treatment strategies. See video from the symposium .
Topics: Humans; Proctocolectomy, Restorative; Child; Pouchitis; Postoperative Complications; Colonic Pouches; Colitis, Ulcerative; Adenomatous Polyposis Coli; Anastomotic Leak; Crohn Disease
PubMed: 38422401
DOI: 10.1097/DCR.0000000000003317