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Purpose: The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in these patients.Experimental Design: This study included 405 patients with at least 10 colonic polyps each. All cases were genetically tested for the three most frequent MUTYH mutations. Whole-gene analysis was performed in heterozygous patients and in 216 patients lacking the three most frequent mutations. Polyps from 56 patients were analyzed for the KRAS-Gly12Cys and BRAF V600E somatic mutations.Results: Twenty-seven (6.7%) patients were diagnosed with MAP, of which 40.8% showed serrated polyps. The sensitivity of studying only the three common variants was 74.1%. Of 216 patients without any monoallelic mutation in common variants, whole-gene analysis revealed biallelic pathogenic mutation in only one. G396D mutation was associated with serrated lesions and older age at diagnosis. There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys somatic mutation in polyps. BRAF V600E mutation was found in 74% of serrated polyps in MUTYH-negative patients and in none of the polyps of MAP patients.Conclusions: We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. The MAP phenotype frequently included patients with serrated polyps, especially when G396D mutation was involved. Our results show that somatic molecular markers of polyps can be useful in identifying MAP cases and support the need for the complete MUTYH gene analysis only in patients heterozygous for recurrent variants. Clin Cancer Res; 20(5); 1158–68. ©2014 AACR.

CCR Translation for This Article from Prevalence and Characteristics of MUTYH-Associated Polyposis in Patients with Multiple Adenomatous and Serrated Polyps

Growing evidence indicates that artificial intelligence (AI) applied to medicine is here to stay. In gastroenterology, AI computer vision applications have been stated as a research priority. The two main AI system categories are computer-aided polyp detection (CADe) and computer-assisted diagnosis (CADx). However, other fields of expansion are those related to colonoscopy quality, such as methods to objectively assess colon cleansing during the colonoscopy, as well as devices to automatically predict and improve bowel cleansing before the examination, predict deep submucosal invasion, obtain a reliable measurement of colorectal polyps and accurately locate colorectal lesions in the colon. Although growing evidence indicates that AI systems could improve some of these quality metrics, there are concerns regarding cost-effectiveness, and large and multicentric randomized studies with strong outcomes, such as post-colonoscopy colorectal cancer incidence and mortality, are lacking. The integration of all these tasks into one quality-improvement device could facilitate the incorporation of AI systems in clinical practice. In this manuscript, the current status of the role of AI in colonoscopy is reviewed, as well as its current applications, drawbacks and areas for improvement.

Chronic infection due to hepatitis C virus (HCV) is frequently asymptomatic even in advanced stages of liver disease. Implementation of a screening programme based on different HCV tests might enable earlier diagnosis of HCV liver disease and subsequent application of highly effective treatment.A Markov model which compares three different screening strategies for hepatitis C versus no-screening in low-risk prevalence (general population) and high-risk prevalence population (people who inject drugs or prison population) was designed taking into account age at the start of screening and participation. The three strategies were: 1) serological detection of antibodies against the HCV, 2) dried blood spot test (DBS) to detect antibodies against HCV and, 3) for detecting RNA from HCV. Quality-adjusted life-years (QALY) were taken as a measurement of effectiveness. The incremental cost-effectiveness ratio (ICER) was calculated and a deterministic and probabilistic sensitivity analysis was performed.All three screening strategies were found to be cost-effective with an ICER of €13,633, €12,015 and €12,328/QALY for antiHCV, DBS-AntiHCV and DBS-RNA HCV, respectively. There was a decrease in mortality due to liver disease in comparison to no-screening for antiHCV (40.7% and 52%), DBS-AntiHCV (45% and 80%) and DBS-RNA HCV (45.2% and 80%) for low-prevalence and high-prevalence populations, respectively.All test interventions for HCV screening are cost-effective for early detection of HCV infection, achieving also a reduction in mortality. Thus, implementation of screening programmes for HCV should not be halted by decisions on monetary policy.

Artificial intelligence-based computer-aid detection (CADe) devices have been recently tested in colonoscopies, increasing the adenoma detection rate (ADR), mainly in Asian populations. However, there is still low evidence for the benefit of these devices in the occidental population. We tested a new CADe device, namely, ENDO-AID (OIP-1) (Olympus, Japan), in clinical practice.This randomized controlled trial included 370 consecutive patients who were randomized 1:1 to CADe (n=185) versus standard exploration (n=185) from November 2021 to January 2022. The primary endpoint was the ADR. Advanced adenoma was defined as ≥ 10mm, harboring high grade dysplasia or with villous pattern. Otherwise, the adenoma was nonadvanced. ADR was assessed in both groups stratified by endoscopist ADR and colon cleansing.In the intention-to-treat analysis the ADR was 55.1% (n=102/185) in the CADe group and 43.8% (n=81/185) in the control group (P=0.029). Nonadvanced ADRs (54.8% vs. 40.8%, P=0.01) and flat ADRs (39.4 vs. 24.8, P=0.006), polyp detection rate (67.1% vs. 51%; P=0.004) and number of adenomas per colonoscopy were significantly higher in the CADe group than in the control group (median [Percentile 25Colonoscopy assisted by ENDO-AID (OIP-1) increases ADR and APC, suggesting that it may prevent the overlooking of colorectal neoplastic lesions, especially because of its detection of diminutive and flat adenomas.

Background The aim of this study was to assess whether a 3-day low-residue diet (LRD) improved bowel cleansing quality compared with a 1-day LRD regimen. Methods Consecutive patients scheduled for outpatient colonoscopy were randomized to the 1-day LRD or 3-day LRD groups. All patients received a 2-L split-dose of polyethylene glycol plus ascorbic acid. The primary outcome was bowel cleansing quality as evaluated using the Boston Bowel Preparation Scale (BBPS) (adequate cleansing ≥ 2 points per segment). Secondary outcomes were adherence to and level of satisfaction with the LRD, difficulty following the dietary recommendations, and willingness to repeat the same LRD in the future. Intention-to-treat (ITT) and per-protocol (PP) analyses were conducted for the primary outcome. A superiority analysis was performed to demonstrate that a 3-day LRD regimen was superior to a 1-day LRD regimen with a margin of 10 %. Results 390 patients (1-day LRD group = 196, 3-day LRD = 194) were included. The cleansing quality was not significantly different between the groups: ITT analysis 82.7 % (95 % confidence interval [CI] 77.4 to 88.0) vs. 85.6 % (95 %CI 80.7 to 90.5), with odds ratio (OR) 1.2 (95 %CI 0.72 to 2.15); PP analysis 85.0 % (95 %CI 79.9 to 90.1) vs. 88.6 % (95 %CI 84.0 to 93.2), with OR 1.4 (95 %CI 0.88 to 2.52). No differences were found regarding adherence to the diet or cleansing solution, satisfaction or difficulty with the LRD, and the polyp/adenoma detection rates. Conclusion 3-day LRD did not offer advantages over 1-day LRD in preparation for colonoscopy.

This study examined the effects of a large-scale flipped learning (FL) approach in an undergraduate course of Digestive System Diseases.This prospective non-randomized trial recruited 404 students over three academic years. In 2016, the course was taught entirely in a Traditional Lecture (TL) style, in 2017 half of the course (Medical topics) was replaced by FL while the remaining half (Surgical topics) was taught by TL and in 2018, the whole course was taught entirely by FL. Academic performance, class attendance and student's satisfaction surveys were compared between cohorts.Test scores were higher in the FL module (Medical) than in the TL module (Surgical) in the 2017 cohort but were not different when both components were taught entirely by TL (2016) or by FL (2018). Also, FL increased the probability of reaching superior grades (scores7.0) and improved class attendance and students' satisfaction.The holistic FL model is more effective for teaching undergraduate clinical gastroenterology compared to traditional teaching methods and has a positive impact on classroom attendances.

Background Recent evidence suggests that the number of low residue diet (LRD) days does not influence the bowel cleansing quality in non-selected patients. However, there are not data in the subgroup of patients with risk factors of inadequate bowel cleansing. Objective The aim of this study was to assess whether a 3-day LRD improved the bowel cleansing quality in patients with risk factors of poor bowel cleansing. Patients and methods Post hoc analysis of a randomized controlled trial carried out between December 2017 and March 2018 in a tertiary care hospital. Patients with high risk of poor bowel cleansing were selected following a validated score. The patients were randomized to the 1-day LRD or 3-day LRD groups. All patients received a 2-L split-dose of polyethylene glycol plus ascorbic acid. Intention-to-treat (ITT) and per-protocol (PP) analyses were conducted for the main outcome. Results 135 patients (1-day LRD group = 67, 3-day LRD = 68) were included. The rate of adequate cleansing quality was not significantly different between the groups in the ITT analysis: 76.1%, 95% CI: [64.6–84.8] vs. 79.4%, 95% CI: [68.2–87.4]; odds ratio (OR) 1.2, 95% CI [0.54–2.73]) or in the PP analysis: 77.3%, 95% CI: [65.7–85.8] vs. 80.3%, 95% CI: [69.0–88.3]; OR 1.2, 95% CI [0.52–2.77]). Compliance with the diet or cleansing solution, satisfaction or difficulties with the LRD and the polyp/adenoma detection rates were not significantly different. Conclusion Our results suggest that 1-day LRD is not inferior to 3-day LRD in patients with risk factors of inadequate bowel cleansing.

OBJECTIVES: Most patients with multiple colonic polyps do not have a known genetic or hereditary origin. Our aim was to analyze the presence of inflammatory cytokines and levels of glucose, insulin, and C-reactive protein (CRP) in patients with multiple colonic polyps. METHODS: Eighty-three patients with 10 or more adenomatous or serrated polyps and 53 control people with normal colonoscopy were included. Smoking habits were registered, and glucose, CRP, and basal insulin in the serum/blood were measured. Quantification of IL-2, IL-4, IL-6, IL-10, IL-11, IL-17A, and IL-23 cytokine levels in the serum was performed by a high-sensitivity enzyme-linked immunosorbent assay. RESULTS: Smoking and diabetes were more prevalent in those with colonic polyps than in the control people (67% vs 16%, P = 0.001; 11% vs 2%, P = 0.048). In addition, the cytokine serum levels were higher, i.e., IL-2 (P = 0.001), IL-4 (P = 0.001), IL-6 (P = 0.001), IL-17A (P = 0.001), IL-23 (P = 0.014), and CRP (P = 0.003). Adjusting for sex, smoking, and diabetes in a multivariate analysis, IL-2, IL-4, IL-6, IL-17A, and IL-23 remained independently elevated in cases with multiple polyps. DISCUSSION: These results indicate that immune responses mediated by Th17 cells may be involved in the pathogenesis of multiple colonic polyps.

Long waiting times from early symptoms to diagnosis and treatment may influence the staging and prognosis of patients with colorectal cancer. We analyzed the effect of colonoscopy timing on the outcome of these patients.This study aimed to compare the outcome (tumoral staging and long-term survival) of patients with suspected colorectal cancer according to diagnostic colonoscopy timing.This study is an analysis of a prospectively maintained database.The study was conducted at the Open Access Endoscopy Service of the tertiary public healthcare center Hospital Universitario de Canarias, in the Spanish island of Tenerife.Consecutive patients diagnosed of colorectal cancer between February 2008 and October 2010, fulfilling 1 or more National Institute for Health and Clinical Excellence criteria, were assigned to early colonoscopy (30 days from referral) or to standard-schedule colonoscopy at the discretion of the referring physician. Tumor staging (TNM classification) at diagnosis and long-term survival after treatment were compared in both strategies.The primary outcomes measured were the stage at presentation and overall survival, as determined by prompt or standard referral.Overall, 257 patients with colorectal cancer were diagnosed (101 at early colonoscopy and 156 at standard-schedule colonoscopy). TNM stages I and II were found in 52 (54.2%) and 60 (41.7%) patients in the early colonoscopy group and standard-schedule colonoscopy group. Stage IV was confirmed in 13 patients (13.5%) diagnosed in the early colonoscopy group and in 40 (28%) detected in the standard-schedule colonoscopy group. Survival rates at 12 and 60 months after treatment were significantly higher in the early colonoscopy group compared with the standard-schedule colonoscopy group (p0.001).Controlled randomization of early versus standard-referral colonoscopy, size and scope of analysis, the time interval from symptom onset to first physician assessment, and the different locations of colorectal cancer between groups were limitations of the study.Colonoscopy within 30 days from referral improves outcome in patients with symptomatic colorectal cancer. See Video Abstract at http://journals.lww.com/dcrjournal/Pages/videogallery.aspx.

Matrix metalloproteinases (MMPs) are overexpressed at different stages of colorectal carcinogenesis and could serve as early surrogate biomarkers of colorectal neoplasia.To assess the utility of plasma MMP2 and MMP9 levels in the detection of advanced colorectal neoplasia and their correlation with tissue levels.We analysed blood and tissue samples from patients with non-advanced adenomas (n=25), advanced adenomas (n=25), colorectal cancer (n=25) and healthy controls (n=75). Plasma and tissue gelatinase levels were determined by Luminex XMAP technology and gelatin zymography. Receiver operating characteristic (ROC) curve analysis was used to calculate the optimum cut-off for the detection of advanced colorectal neoplasia.Plasma MMP2 levels were similar between groups whatever the type of lesion. Plasma MMP9 levels were significantly higher in patients with neoplastic lesions than in healthy controls (median 292.3ng/ml vs. 139.08ng/ml, P0.001). MMP9 levels were also higher in colorectal cancer than in non-advanced adenomas (median 314.6ng/ml vs. 274.3ng/ml, P=0.03). There was a significant correlation between plasma and tissue levels of MMP9 (r=0.5, P0.001). The plasma MMP9 cut-off range with the highest diagnostic accuracy was between 173ng/ml and 204ng/ml (AUC=0.80 [95% CI: 0.72-0.86], P0.001; sensitivity, 80-86% and specificity, 57-67%).Plasma MMP9 could be a surrogate biomarker for the early detection of advanced colorectal neoplasia, although its diagnostic performance could be increased by combination with other biomarkers.

First-degree relatives of patients with colorectal cancer (CRC) are at high risk of this disease. For this reason, medical organizations and clinical guidelines recommend more intensive screening and surveillance for such first-degree relatives than for the average-risk population. Colonoscopy has been the cornerstone of CRC screening in this setting. Although colonoscopy is the most sensitive technique for the detection of neoplastic lesions (especially non-advanced adenomas), its role is less clear for CRC. In addition, screening colonoscopy has several limitations that may affect the success of a screening campaign, such as poor participant acceptance, the need for skilled endoscopists, participant access to screening colonoscopy, overburdened endoscopy units, potential complications, and procedure-related costs. In addition, recent evidence has cast doubt on the advantage of colonoscopy over other strategies for the detection of advanced neoplastic lesions. Despite being less sensitive in general, other screening methods frequently recommended in the average-risk population may be more acceptable and thus help increase CRC screening uptake. This review discusses recent evidence on the risk of CRC in first-degree relatives, the advantages and disadvantages of each screening technique, participation rates depending on the technique, patient preferences, and barriers to screening.

BackgroundDifferentiation between benign and malignant portal vein thrombosis (PVT) in the setting of a hepatocellular carcinoma (HCC) is of paramount importance. Histological analysis is usually not carried out because of potential severe side effects of the percutaneous approach. Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) may be safer and may guide the clinical management of patients with HCC.ObjectiveTo describe the feasibility of the EUS-FNA in a series of patients with HCC and PVT.Materials and methodsA chart review of patients with PVT was performed from 2014 to 2016 in three tertiary care hospitals of Spain. Patients with chronic liver disease and PVT with a suspicion of HCC referred for EUS-FNA were included. The impact of the EUS-FNA was assessed by comparing staging following the Barcelona Clinic Liver Cancer algorithm (BCLC) before and after EUS-FNA.ResultsOf 104 patients with PVT and chronic liver disease, 23 were considered candidates for EUS-FNA. Eight patients were referred for EUS-FNA. The technique was feasible in seven patients and FNA was positive in six patients. No side effects were reported. EUS-FNA upstaged six out of seven (85.7%) patients: one patient BCLC stage B, two patients BCLC stage A, and three patients in whom the HCC was not diagnosed before EUS-FNA of the PVT. A benign PVT was found in the explant of the only patient with a negative PVT.ConclusionEUS-FNA is a valuable technique in selected patients with chronic liver disease with PVT. It is feasible, safe, and may alter the clinical management in these patients.

Guidelines recommend surveillance colonoscopies based exclusively on findings at baseline colonoscopy. This recommendation leads to the paradox that the higher the baseline colonoscopy quality, the more surveillance colonoscopies will be indicated according to current guidelines.The aim of this study was to evaluate the effect on follow-up findings of different quality metrics of the endoscopist performing the baseline colonoscopy.This retrospective cohort study included individuals with advanced adenomas at baseline colonoscopy. Adenoma detection rate (ADR) and adenomas per colonoscopy rate (APCR) were determined for 44 endoscopists. Surveillance colonoscopies were checked after systematic tracking.A total of 574 individuals were diagnosed with advanced adenomas, of whom 270 received a surveillance colonoscopy. Patients whose baseline colonoscopy endoscopist had an ADR lower than the median of 33.8% had significantly higher rates of advanced neoplasia at follow-up (13.1% vs 4.0%;Our results suggest that the risk of identifying advanced adenomas at follow-up is closely related to the quality metrics of the endoscopist who performs the baseline colonoscopy.

Two recent genome-wide association studies in Asians have reported the association between the PSCA (prostate stem cell antigen) rs2294008C>T gene polymorphism and two Helicobacter pylori infection-related diseases such as gastric cancer (GC) and duodenal ulcer (DU). Since rs2294008 allele frequencies differ notably among ethnicities, we aimed to assess the role of rs2294008 on the susceptibility to GC and DU in a Caucasian population in Spain. Moreover, the relevance of rs2294008 on GC prognosis was evaluated. Genomic DNA from 603 Spanish patients with primary GC, 139 with DU and 675 healthy controls was typed for the PSCA rs2294008C>T polymorphism by PCR-TaqMan assays. H. pylori infection [odds ratio (OR): 8.27; 95% confidence interval (CI): 3.45-15.33] and nonsteroidal anti-inflammatory drugs (OR: 6.54; 95% CI: 3.19-12.43) were identified as independent risk factors for DU whereas the rs2294008T allele was associated with reduced risk of developing the disease (OR: 0.52; 95% CI: 0.33-0.82). Infection with CagA strains (OR: 2.10; 95% CI: 1.63-2.34), smoking (OR: 1.93; 95% CI: 1.54-2.61), family history of GC (OR: 2.83; 95% CI: 2.01-3.83), and the rs2294008T allele (OR: 1.46; 95% CI: 1.07-1.99) were associated with increased risk of GC. Interestingly, the association with the rs2294008T allele was restricted to noncardia GC (OR: 1.43; 95% CI: 1.12-1.82), particularly of the diffuse histotype (OR: 1.59; 95% CI: 1.16-1.92). Finally, Cox regression analysis identified the rs2294008T variant as a prognosis factor associated with worse overall survival in patients with diffuse-type GC (hazard ratio: 1.85; 95% CI: 1.12-3.06). From these results we conclude that the PSCA rs2294008 polymorphism is involved in the susceptibility to GC and DU, as well as in the prognosis of the diffuse-type of GC in Caucasians.

The aim of the present study was to perform a comparative cost-effectiveness analysis of the different strategies used to prevent post-endoscopic retrograde cholangiopancreatography (ERCP) acute pancreatitis.We performed a cost-effectiveness decision analysis of 4 prophylactic strategies (nonsteroidal anti-inflammatory drugs or NSAIDs, pancreatic stent, stent plus rectal indomethacin, and no prophylaxis) in a simulated cohort of 300 patients during 1 year. Treatment effectiveness was defined as the number of patients who did not develop post-ERCP pancreatitis.The baseline costs of each strategy were as follows: rectal NSAID $359,098, pancreatic stent $426,504, stent plus rectal indomethacin $479,153, and no prophylaxis $491,275. The mean number of cases developing post-ERCP pancreatitis was 16, 21, 23, and 37 for the strategies rectal NSAID, pancreatic stent, stent plus rectal indomethacin, and no prophylaxis, respectively. Taking rectal NSAID prophylaxis as the reference strategy, the odds ratio of an episode of post-ERCP acute pancreatitis after pancreatic stent placement was 1.33 (95% confidence interval [CI], 0.68-2.61); after stent plus indomethacin, it was 1.40 (95% CI, 0.72-2.73), and after no prophylaxis, it was 2.49 (95% CI, 1.35-4.59).Rectal NSAID administration proved to be the most cost-effective prophylactic strategy used to prevent post-ERCP pancreatitis. The strategy of no prophylaxis for this complication should be avoided.

Background and study aim Inadequate bowel cleansing negatively affects the efficiency of colonoscopy in routine clinical practice. The aim of this study was to design and validate a predictive model for inadequate bowel cleanliness. Patients and methods The model was built from 667 consecutive outpatients (development cohort) who were prospectively scheduled for colonoscopy between June and September 2014. The validation cohort included 409 outpatients who underwent colonoscopy between October and December 2014. Cleansing was evaluated using the Boston Bowel Preparation Scale (BBPS). Bowel preparation was administered on the same day as the examination. Results In the development cohort, BBPS was adequate in 541 patients (81.1 %). At multivariate analysis, antidepressants (odds ratio [OR] 4.25, 95 % confidence interval [CI] 1.91 – 9.47), co-morbidity (OR 3.35, 95 %CI 2.16 – 5.18), constipation (OR 2.09, 95 %CI 1.29 – 3.40), and abdominal/pelvic surgery (OR 1.60, 95 %CI 1.03 – 2.47) were independent predictors for inadequate cleansing. The model built with these variables showed an area under the curve of 0.72 in the development cohort and 0.70 in the validation cohort. A cutoff of 1.225 predicted inadequate bowel preparation with a sensitivity, specificity, positive predictive value, and negative predictive value of 60.3 % (95 %CI 51.6 – 68.4), 75.4 % (95 %CI 71.6 – 78.9), 36.4 % (95 %CI 30.1 – 43.1), and 89.1 % (95 %CI 85.9 – 91.6) in the development cohort, and 50.0 % (95 %CI 38.1 – 61.9), 80.0 % (95 %CI 75.3 – 84.2), 35.7 % (95 %CI 26.4 – 45.6), and 87.9 % (95 %CI 83.7 – 91.3) in the validation cohort. Conclusion A simple score may assist the clinician in predicting which patients are at high risk of inadequate bowel cleanliness. This may guide changes in bowel preparation strategy accordingly.

Colorectal cancer ranks as one of the most incidental and death malignancies worldwide. Colorectal cancer screening has proven its benefit in terms of incidence and mortality reduction in randomized controlled trials. In fact, it has been recommended by medical organizations either in average-risk or family-risk populations. Success of a screening campaign highly depends on how compliant the target population is. Several factors influence colorectal cancer screening uptake including sociodemographics, provider and healthcare system factors, and psychosocial factors. Awareness of the target population of colorectal cancer and screening is crucial in order to increase screening participation rates. Knowledge about this disease and its prevention has been used across studies as a measurement of public awareness. Some studies found a positive relationship between knowledge about colorectal cancer, risk perception, and attitudes (perceived benefits and barriers against screening) and willingness to participate in a colorectal cancer screening campaign. The mentioned factors are modifiable and therefore susceptible of intervention. In fact, interventional studies focused on average-risk population have tried to increase colorectal cancer screening uptake by improving public knowledge and modifying attitudes. In the present paper, we reviewed the factors impacting adherence to colorectal cancer screening and interventions targeting participants for increasing screening uptake.

Background Standard bowel cleansing for colon capsule endoscopy (CCE) requires a liquid diet and bowel laxatives for at least 2 days, which is a major drawback of this procedure and affects tolerance and acceptability. Objective To compare the quality of colon cleanliness achieved with one-day versus two-day bowel preparation in outpatients undergoing CCE. Methods Patients were randomly assigned to one of two groups: group I (one-day schedule, n = 20) received a fiber-free diet and 3 L of polyethylene glycol (PEG) on day 0; group II (two-day schedule, n = 20) received a liquid diet and 3 L of PEG in the evening of day −1, and 1 L of PEG in the early morning of day 0. In both groups, the patients received 15 mg bisacodyl on day −1 and one or two additional sodium phosphate (NaP) boosters following capsule ingestion. Each colon segment was assessed for cleanliness using a four-point grading scale (excellent = 1, good = 2, fair = 3, and poor = 4). For the final analysis, colon cleanliness was rated as adequate (good or excellent) or inadequate (fair or poor). Results Overall colon cleanliness was adequate in 94% (CI 91–97) of patients in group I versus 80% (CI 72–88) in group II ( P = 0.27). No significant differences were observed in the per-segment quality of colon cleansing between the two groups. CCE reached the rectum in 80% (CI 73–87) of patients in group I versus 75% (CI 67–83) in group II (p = 0.59). Conclusion The quality of colon cleanliness achieved with one-day bowel preparation is equivalent to that of the standard two-day schedule in patients undergoing CCE.

Purpose: The present study aimed to determine the prevalence of MUTYH mutations in patients with multiple colonic polyps and to explore the best strategy for diagnosing MUTYH-associated polyposis (MAP) in these patients. Experimental Design: This study included 405 patients with at least 10 colonic polyps each. All cases were genetically tested for the three most frequent MUTYH mutations. Whole-gene analysis was performed in heterozygous patients and in 216 patients lacking the three most frequent mutations. Polyps from 56 patients were analyzed for the KRAS-Gly12Cys and BRAF V600E somatic mutations. Results: Twenty-seven (6.7%) patients were diagnosed with MAP, of which 40.8% showed serrated polyps. The sensitivity of studying only the three common variants was 74.1%. Of 216 patients without any monoallelic mutation in common variants, whole-gene analysis revealed biallelic pathogenic mutation in only one. G396D mutation was associated with serrated lesions and older age at diagnosis. There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys somatic mutation in polyps. BRAF V600E mutation was found in 74% of serrated polyps in MUTYH-negative patients and in none of the polyps of MAP patients. Conclusions: We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. The MAP phenotype frequently included patients with serrated polyps, especially when G396D mutation was involved. Our results show that somatic molecular markers of polyps can be useful in identifying MAP cases and support the need for the complete MUTYH gene analysis only in patients heterozygous for recurrent variants. Clin Cancer Res; 20(5); 1158–68. ©2014 AACR.

Colonoscopy is the recommended method for diagnosis of colorectal diseases but the number of neoplastic lesions missed is not negligible. To reduce this it is necessary to achieve quality standards in colonoscopy, for example the extent of cecal intubation, adequate bowel cleansing, and appropriate withdrawal time. Conventional wisdom is that proper colonoscopy training is the most important aspect of detection of subtle lesions. Systematic examination, including careful inspection behind folds, removal of residual stools by lavage, and awareness of and an active search for subtle mucosal abnormalities, are key factors in increasing detection of neoplastic lesions. In addition, ancillary techniques might aid detection or better characterization of additional lesions. This review focuses on the requirements for a high quality colonoscopy and on the novel techniques that may improve detection of adenoma.

Variations in DNA repair genes have been reported as key factors in gastric cancer (GC) susceptibility but results among studies are inconsistent. We aimed to assess the relevance of DNA repair gene polymorphisms and environmental factors to GC risk and phenotype in a Caucasian population in Spain. Genomic DNA from 603 patients with primary GC and 603 healthy controls was typed for 123 single nucleotide polymorphisms in DNA repair genes using the Illumina platform. Helicobacter pylori infection with CagA strains (odds ratio (OR): 1.99; 95% confidence interval (CI): 1.55-2.54), tobacco smoking (OR: 1.77; 95% CI: 1.22-2.57), and family history of GC (OR: 2.87; 95% CI: 1.85-4.45) were identified as independent risk factors for GC. By contrast, the TP53 rs9894946A (OR: 0.73; 95% CI: 0.56-0.96), TP53 rs1042522C (OR: 0.76; 95% CI: 0.56-0.96), and BRIP1 rs4986764T (OR: 0.55; 95% CI: 0.38-0.78) variants were associated with lower GC risk. Significant associations with specific anatomopathological GC subtypes were also observed, most notably in the ERCC4 gene with the rs1799801C, rs2238463G, and rs3136038T variants being inversely associated with cardia GC risk. Moreover, the XRCC3 rs861528 allele A was significantly increased in the patient subgroup with diffuse GC (OR: 1.75; 95% CI: 1.30-2.37). Our data show that specific TP53, BRIP1, ERCC4, and XRCC3 polymorphisms are relevant in susceptibility to GC risk and specific subtypes in Caucasians.

Background & Aims We investigated whether patients with multiple serrated polyps, but not meeting the World Health Organization criteria for serrated polyposis syndrome, and their relatives have similar risks for colorectal cancer (CRC) as those diagnosed with serrated polyposis. Methods We collected data from patients with more than 10 colonic polyps, recruited in 2008–2009 from 24 hospitals in Spain for a study of causes of multiple colonic polyps. We analyzed data from 53 patients who met the criteria for serrated polyposis and 145 patients who did not meet these criteria, but who had more than 10 polyps throughout the colon, of which more than 50% were serrated. We calculated age- and sex-adjusted standardized incidence ratios (SIRs) for CRC in both groups, as well as in their first-degree relatives. Results The prevalence of CRC was similar between patients with confirmed serrated polyposis and multiple serrated polyps (odds ratio, 1.35; 95% confidence interval [CI], 0.64–2.82; P = .40). The SIR for CRC in patients with serrated polyposis (0.51; 95% CI, 0.01–2.82) did not differ significantly from the SIR for CRC in patients with multiple serrated polyps (0.74; 95% CI, 0.20–1.90; P = .70). The SIR for CRC also did not differ significantly between first-degree relatives of these groups (serrated polyposis: 3.28, 95% CI, 2.16–4.77; multiple serrated polyps: 2.79, 95% CI, 2.10–3.63; P = .50). Kaplan–Meier analysis showed no differences in the incidence of CRC between groups during the follow-up period (log-rank, 0.6). Conclusions The risk of CRC in patients with multiple serrated polyps who do not meet the criteria for serrated polyposis, and in their first-degree relatives, is similar to that of patients diagnosed with serrated polyposis.

Inadequate bowel cleansing is a major burden for endoscopy units. The aim of this study was to compare two intensive bowel cleansing regimens in patients with previous colonoscopy with inadequate bowel preparation.Patients with inadequate cleansing at index colonoscopy were randomized to 4-L split-dose polyethylene-glycol (PEG) regimen vs. 2-L split-dose PEG plus ascorbic acid (PEG+Asc) regimen. All individuals underwent a 3-day low-residue diet and received 10 mg of bisacodyl, the day before colonoscopy. Cleansing was considered to be adequate if the Boston Bowel Preparation Scale scored ≥2 at each colonic segment. A non-inferiority analysis was performed to demonstrate that colonic cleansing with 2-L PEG+Asc was not inferior to 4-l PEG, considering a non-inferiority margin of 10%.Adequate bowel cleansing was significantly higher in patients assigned to 4-L PEG regimen (n=127) vs. those randomized to 2-L PEG+Asc regimen (n=129) by intention-to-treat analysis (81.1 vs. 67.4%, odds ratio (OR) 2.07, 95% confidence interval (CI) (1.163-3.689)) and by per-protocol analysis (86.6 vs. 71.7%, OR: 2.55, 95% CI: (1.316-4.922)). The study was terminated for futility after the interim analysis, because the 95% CI of the difference of proportions was 3.13-24.27% in the intention-to-treat analysis and 3.33-26.47% in the per-protocol analysis, confirming the superiority of 4-L PEG preparation.After 3-day low-residue diet and oral bisacodyl before colonoscopy, colon cleansing with 4-L split-dose PEG was superior to 2-L split-dose PEG+Asc in patients with previous inadequate cleansing. (EUDRACT: 2013-002506-31, NCT02073552).

Background and study aims: Endoscopic surveillance in patients with multiple colorectal polyps aims to reduce colorectal cancer (CRC) incidence and mortality, as well as the need for colorectal surgery. The aim of this study was to determine the risk of developing CRC or the need for surgery during endoscopic surveillance in a cohort of patients with multiple (10-100) colorectal polyps. Patients and methods: This was a multicentrer, longitudinal, observational study in 15 CRC high risk clinics in Spain, carried out between January 2009 and December 2010. Patients who were included in the EPIPOLIP trial and had at least 1 year of follow-up were included in the study. The primary outcome of interest was the incidence of CRC at least 1 year following the initial colonoscopy. The secondary outcome was the need for colorectal surgery. Results: A total of 265 patients were followed for a median of 3.8 years. Patients underwent a median of 5 colonoscopies, and 17 patients (6.4 %) were diagnosed with CRC. A total of 32 patients (12.1 %) underwent surgery, including 15 (5.7 %) for prophylaxis without a diagnosis of CRC. The corresponding incidence density rates for CRC and colorectal surgery were 1.4 (95% confidence interval [CI] 0.7 to 2.1) and 2.7 (95 % CI 1.7 to 3.6) per 100 patient-years, respectively. Only the presence of symptoms at first colonoscopy was independently associated with CRC diagnosis (hazard ratio [HR] 7.7, 95% CI 1.1 to 59.3) and colorectal surgery (HR 4.6, 95% CI 1.02 to 20.6). Conclusions: Patients with more than 10 neoplastic polyps required frequent colonoscopies within a short follow-up period. More than 10% of patients required colorectal surgery within 4 years, more than half for incident CRC.

Resumen La diseccion submucosa endoscopica (DSE) es una tecnica terapeutica endoscopica aplicable a las neoplasias digestivas precoces y desarrollada con los objetivos de conseguir una reseccion radical curativa y una disminucion de las intervenciones quirurgicas innecesarias. Disenada en los paises orientales, se encuentra poco extendida en Occidente. Aunque la DSE representa un avance terapeutico endoscopico significativo y persigue la curacion completa del paciente, ofrece en contrapartida una mayor incidencia de complicaciones (hemorragia, perforacion) que obligan a la adquisicion de una destreza tecnica y experiencia mediante un programa de entrenamiento estructurado y progresivo con el fin de disminuir la morbilidad asociada a esta tecnica e incrementar los beneficios potenciales de la misma. Aunque se ha publicado una importante evidencia cientifica sobre sus aplicaciones y resultados, las publicaciones relacionadas con su ensenanza son escasas y no hay un programa estandarizado de aprendizaje. El autor ha tratado de describir las diversas propuestas de entrenamiento pero tambien los principios basicos de la tecnica, sus indicaciones y los resultados obtenidos, ya que antes del aprendizaje es conveniente disponer de una base teorica de conocimiento que permita guiar al endoscopista durante la aplicacion clinica de esta tecnica endoscopica. El adiestramiento en una tecnica endoscopica no sirve de nada si no se conoce para que se emplea, en que situaciones se debe aplicar y que resultados se debe esperar de ella.

Resumen Introduccion Internet ha supuesto un cambio radical en el acceso a la informacion medica. No se ha estudiado el acceso a webs medicas en los pacientes con enfermedades digestivas en nuestro medio. Objetivo Determinar el nivel de acceso y el uso de Internet como fuente de informacion medica de los pacientes con enfermedades digestivas en nuestro entorno. Material y metodos Se encuestaron 699 pacientes consecutivos, ingresados y de consultas externas intra y extrahospitalarias de Digestivo. Resultados Respondieron 671 pacientes (55% mujeres), rango de edad 18 a 88 anos, media de 54 + 16. Usaban Internet el 36%. No hubo diferencias por sexos, pero si por edad (86% los mayores de 30 anos vs 6% los mayores de 70, p 0,005, OR 2,710 IC 1,628-4,511). La informacion le parecio menos fiable que la del medico al 77% de los hombres y al 70% de las mujeres. Al 86% le gustaria usar el correo electronico con su medico. El 89% consideraban Internet util para resolver dudas, el 89% querian direcciones de salud y el 90% informacion periodica sobre su enfermedad. Los pacientes no universitarios demandaban mas informacion periodica (p = 0,01) y sobre como buscar informacion medica (p = 0,03). Conclusiones Una tercera parte de los pacientes con enfermedades digestivas utilizan Internet para informarse acerca de su enfermedad. Los pacientes quieren mayor informacion de su medico sobre recursos de salud en Internet.

BACKGROUND AND STUDY AIMS The European Panel on the Appropriateness of Gastrointestinal Endoscopy (EPAGE I) criteria were recently updated (EPAGE II), but no prospective studies have used these criteria in clinical practice. The aim of the current study was to validate the EPAGE II criteria in an open-access endoscopy unit. PATIENTS AND METHODS A prospective observational study was conducted in an open-access endoscopy unit at a tertiary care referral center. Consecutive outpatients (n = 1004; mean age 58.9 ± 13.1 years; 45 % men) were referred for diagnostic colonoscopy between September 2009 and February 2010. The appropriateness of colonoscopy was assessed based on EPAGE II criteria, and the relationship between appropriateness and both referral doctor and detection of significant lesions was examined. The effectiveness of EPAGE II criteria in assessing appropriateness was measured by means of sensitivity, specificity, and positive and negative predictive values for detecting significant lesions. RESULTS Colonoscopic cecal intubation was achieved in 956 patients (95.2 %). Most referral doctors were gastroenterologists (58.0 %) and the most common indication was colorectal cancer (CRC) screening (35.2 %). EPAGE II criteria were applicable in 968 patients (96.4 %); of these patients, the indication was appropriate in 778 (80.4 %), inappropriate in 102 (10.5 %), and uncertain in 88 (9.1 %). Patients with appropriate or uncertain indications based on EPAGE II criteria had more relevant endoscopic findings than those with inappropriate indications (38.8 % vs. 24.5 %; OR 1.95, 95 %CI 1.22 - 3.13; P

To investigate screening intentions and previous uptake of colorectal cancer (CRC) screening tests in a general population in Spain; and to determine knowledge about CRC, risk perceptions, major barriers to screening and perceived benefits of screening.Cross-sectional study.Six hundred consecutive Spanish individuals over 50 years of age completed a questionnaire to determine their screening intentions, previous CRC diagnostic procedures, and knowledge about screening procedures, risk factors for CRC, 5-year prognosis, warning signs and symptoms, incidence, age-related risk and perceived barriers to screening.Although 78.8% of subjects reported that they were willing to participate in CRC screening, only 12% had ever undergone a screening test, and none with screening intention. Awareness of a breast cancer screening test [odds ratio (OR) 1.67, 95% confidence interval (CI) 1.04-2.70; P = 0.035], visiting a general practitioner in the preceding year (OR 3.08, 95% CI 1.86-5.08; P 0.0001), awareness of risk factors (OR 2.32, 95% CI 1.49-3.61; P 0.001), awareness of CRC signs or symptoms (OR 1.65, 95% CI 1.03-2.64; P = 0.04) and belief in the efficacy of CRC screening (OR 8.85, 95% CI 1.53-51.3; P = 0.01) were independent predictors for intention to participate in CRC screening. The most common reasons given for refusing screening were 'CRC tests might be dangerous' (28.2%), 'CRC tests might be painful' (17.9%) and 'feeling healthy' (16.2%).Although reported willingness to undergo CRC screening was high, CRC knowledge and actual uptake of CRC screening were low. An educational intervention to reduce barriers and increase awareness could improve uptake of CRC screening.

Background & Aims 5-Fluorouracil (5-FU)–based adjuvant chemotherapy does not increase survival times of patients with colorectal tumors with microsatellite instability. We determined the response of patients with colorectal tumors with the CpG island methylator phenotype (CIMP) to 5-FU–based therapy. Methods We analyzed a population-based cohort of 302 patients with colorectal cancer (CRC) for a median follow-up time of 50.7 months. CIMP status was determined by analysis of the CACNAG1 , SOCS1 , RUNX3 , NEUROG1 , and MLH1 promoters; tumors were considered to be CIMP positive if at least 3 promoters were methylated. Results Tumors from 29.5% of patients (89/302) were CIMP positive; CIMP status did not influence disease-free survival (DFS; log-rank = 0.3). Of tumors of TNM stages II–III (n = 196), 32.7% were CIMP positive. Among patients with stages II–III CRC who did not receive adjuvant 5-FU chemotherapy, those with CIMP-positive tumors had longest times of DFS (log-rank = 0.04); In patients who received chemotherapy, those with CIMP-positive tumors had shorter times of DFS (log-rank = 0.02). In patients with CIMP-negative tumors, adjuvant 5-FU chemotherapy significantly increased time of DFS (log-rank = 0.00001). However, in patients with CIMP-positive tumors, adjuvant 5-FU chemotherapy did not affect time of DFS (log-rank = 0.7). Multivariate analysis showed a significant, independent interaction between 5-FU treatment and CIMP status (hazard ratio [HR], 0.6; 95% confidence interval [CI], 0.5–0.8). Among patients with CIMP-positive tumors, adjuvant chemotherapy was not an independent predictor of outcome (HR, 0.8; 95% CI, 0.3–2.0). In patients who did not receive adjuvant 5-FU chemotherapy, CIMP status was the only independent predictor of survival (HR, 2.0; 95% CI, 1.1–3.8). Conclusions Patients with CIMP-positive colorectal tumors do not benefit from 5-FU–based adjuvant chemotherapy.

Although primary pancreatic lymphoma (PPL) is a rare malignant tumor, the correct diagnosis is essential since their therapeutic management differs from other pancreatic tumors. The fine needle aspiration cytology guided by endoscopic ultrasonography (EUS-FNA) is currently the preferred technique for the diagnosis of neoplasms of the pancreas, being of particular interest in those pancreatic lesions with atypical characteristics or presentation. However, the usefulness of EUS-FNA in the PPL has been poorly studied because of the rarity of this entity. We report a case of a patient with HIV infection and PPL diagnosed by EUS-FNA.