The management of pediatric Peutz-Jeghers Syndrome (PJS) focuses on the prevention of intussusception complicating small intestinal (SI) polyposis. This hinges on the accurate appraisal of the polyp burden to tailor therapeutic interventions. Video Capsule Endoscopy (VCE) is an established tool to study SI polyps in children, but an in-depth characterization of polyp burden in this population is lacking. Methods: We performed a retrospective longitudinal cross-sectional analysis of VCE studies in pediatric PJS patients at our institution (CMKC) from 2010 to 2020. Demographic, clinical, and VCE findings reported by three reviewers in tandem were accrued. Polyp burden variables were modeled as functions of patient and study characteristics using linear mixed models adjusted for clustering. Results: The cohort included 15 patients. The total small bowel polyp count and largest polyp size clustered under 30 polyps and <20 mm in size. Luminal occlusion correlated closely with the estimated polyp size. Polyp distribution favored proximal (77%) over distal (66%) small bowel involvement. The adjusted largest polyp size was greater in males. Double Balloon Enteroscopy was associated with a decreased polyp burden. Conclusions: The polyp burden in pediatric PJS patients favors the proximal third of the small intestine, with relatively small numbers and a polyp size amenable to resection through enteroscopy. Male gender and older age were related to an increased polyp burden.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.

Patients with familial adenomatous polyposis (FAP) are at markedly increased risk for duodenal adenomas and cancer. Combination sulindac and erlotinib was previously shown to reduce duodenal polyp burden but was associated with a relatively high adverse event (AE) rate.
To evaluate if a once weekly dosing schedule for erlotinib intervention improves the AE profile, while still providing efficacy with respect to reduced polyp burden, in participants with FAP.
Single-arm trial, enrolling 46 participants with FAP, conducted from October 2017 to September 2019 in eight academic cancer centres.
Participants self-administered 350 mg of erlotinib by mouth, one time per week for 6 months.
Duodenal polyp burden (sum of polyp diameters) was assessed in the proximal duodenum by esophagogastroduodenoscopy performed at baseline and 6 months, with mean per cent change defined as the primary efficacy outcome of interest. Rate of grade 2-3 AEs was evaluated as a co-primary outcome. Secondary outcomes included changes in total duodenal polyp count, along with changes in lower gastrointestinal (GI) polyp burden and count (for participants examined by optional lower endoscopy).
Forty-six participants (mean age, 44.1 years (range, 18-68); women, 22 (48%)) were enrolled; 42 participants completed 6 months of intervention and were included in the per-protocol analysis. Duodenal polyp burden was significantly reduced after 6 months of weekly erlotinib intervention, with a mean per cent change of -29.6% (95% CI, -39.6% to -19.7%; p<0.0001). Similar results were observed in subgroup analyses defined by participants with advanced duodenal polyposis (Spigelman 3) at baseline (mean, -27%; 95% CI, -38.7% to -15.2%; p<0.0001). Post-intervention Spigelman stage was downstaged in 12% of the participants. Lower GI polyp number was also decreased after 6 months of intervention (median, -30.8%; IQR, -47.4% to 0.0%; p=0.0256). Grade 2 or 3 AEs were reported in 71.7% of subjects, with only two experiencing grade 3 toxicity at least possibly related to intervention.
In this single-arm, multi-centre trial of participants with FAP, erlotinib one time per week resulted in markedly lower duodenal polyp burden, and modestly reduced lower GI polyp burden, after 6 months of intervention. While AEs were still reported by nearly three-quarters of all participants, these events were generally lower grade and well-tolerated. These findings support further investigation of erlotinib as an effective, acceptable cancer preventive agent for FAP-associated GI polyposis.
NCT02961374.

Prospective short-term studies on effectiveness of non-steroidal anti-inflammatory drugs (NSAIDs) point towards a decrease in the number and size of polyps. Effectiveness and safety in the prevention of progression in familial polyposis with NSAIDs in long-term use, which is the prerequisite for therapeutic evaluation in prospective studies, is unknown. The total absolute observation period of 54 patients under sulindac was 399 patient years with a mean of 7.4 (2-19) years per patient. 36 patients (66.7%) showed a fast decrease of polyp burden, 8 (14.8%) were slow responders, and 9 (16.7%) had stable disease; one patient had a slow progression. Upper gastrointestinal (GI) polyp burden remained stable in 47% patients, increased in 31%, and improved in 22%. Advanced adenomas were found in 8 patients only within the first 5 years of chemoprevention, no patient developed desmoid disease, anamnestically evaluated on every follow-up. There were no life-threatening side-effects. Dosage and delivery pattern were essential for effectiveness. This study provides evidence that chemoprevention with sulindac is effective and safe and can, either alone or in combination with other drugs, become a long-term management option in cases of adenomatous polyposis. These results justify further long-term prospective chemoprevention studies to elaborate treatment protocols and guidelines.

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A modification is made to the conventional way of doing Draf III by completely avoiding burrs by using only gouges and punches to reduce the postoperative narrowing followed by local instillation of budesonide solution. The results are compared. The comparison was made in terms of surgical duration, frontal ostium size, and recurrence of pathology. This is a prospective non-randomised comparative study in a private practice setting. 25 patients (15 males and 10 females) who underwent Draf III surgery between April 2012 and March 2017 were included in the study. Among them, 14 patients were assigned surgery only with punches and gouges. All the patients were given budesonide nasal instillation postoperatively. Outcomes measured included surgical duration, frontal neo-ostium size and, recurrence of pathology. They were followed up for a period of 14 months. The Student\'s independent t test and χ2 test for independence of attributes were used for statistical analysis. The mean surgical duration for modified Draf III was significantly shorter than conventional Draf III (p value < 0.01). The frontal ostium remained patent in modified Draf III than the Draf III using burrs with a statistical significance (p value < 0.01). The number of cases reporting the absence of recurrence was significantly higher (p value < 0.001) in modified Draf III. Modified Draf III technique, which completely avoids the burr, takes only lesser surgical duration, keeps the frontal ostium patent and drastically reduces recurrence of pathology. Combining postoperative budesonide instillation after modified Draf III helps in achieving promising results.

Serrated polyposis syndrome (SPS) is associated with an increased risk of colorectal cancer (CRC). International guidelines recommend surveillance intervals of 1-2 years. However, yearly surveillance likely leads to overtreatment for many. We prospectively assessed a surveillance protocol aiming to safely reduce the burden of colonoscopies.
Between 2013 and 2018, we enrolled SPS patients from nine Dutch and Spanish hospitals. Patients were surveilled using a protocol appointing either a 1-year or 2-year interval after each surveillance colonoscopy, based on polyp burden. Primary endpoint was the 5-year cumulative incidence of CRC and advanced neoplasia (AN) during surveillance.
We followed 271 SPS patients for a median of 3.6 years. During surveillance, two patients developed CRC (cumulative 5-year incidence 1.3%[95% CI 0% to 3.2%]). The 5-year AN incidence was 44% (95% CI 37% to 52%), and was lower for patients with SPS type III (26%) than for patients diagnosed with type I (53%) or type I and III (59%, p<0.001). Most patients were recommended a 2-year interval, and those recommended a 2-year interval were not at increased risk of AN: AN incidence after a 2-year recommendation was 15.6% compared with 24.4% after a 1-year recommendation (OR 0.57, p=0.08).
Risk stratification substantially reduced colonoscopy burden while achieving CRC incidence similar to previous studies. AN incidence is considerable in SPS patients, but extension of surveillance intervals was not associated with increased AN in those identified as low-risk by the protocol. We identified SPS type III patients as low-risk group that might benefit from even less frequent surveillance.
The study was registered on http://www.trialregister.nl; trial-ID NTR4609.

Excessive fat accumulation in the gastrointestinal tract is pathologic. Gastric mucosal polyposis due to excessive submucosal fat infiltration in a bariatric partial gastrectomy specimen was encountered, which has not been described in the literature. This observation prompted us to assess the extent of fat in gastric submucosa and study the incidence of mucosal polyposis due to submucosal fat accumulation in morbidly obese patients.
Archived pathology slides of 128 bariatric partial gastrectomy specimens including the index case and 89 control cases obtained from Whipple\'s procedure were examined. The amount of submucosal fat was categorized as 0 (no fat), 1 (up to 70% fat), and 2 (> 70% fat). The maximum submucosal fat thickness was measured with the interval cutoff of 5 mm and 10 mm.
Of the 128 cases, 90 (70.3%) were category 1 and 31 (24.2%) were category 2. Maximum submucosal fat thickness was > 10 mm in 3 (2.3%) cases including the index case. The extent of submucosal fat accumulation correlated with the body mass index. The frequencies of category 2 and > 10 mm of fat thickness were higher in the bariatric patient group compared with the control group.
We propose a submucosal fat thickness of > 10 mm and diffuse (> 70%) fat accumulation as diagnostic criteria for gastric lipohyperplasia. Using these criteria, the prevalence of gastric lipohyperplasia in the morbidly obese population is 2.3%. A subset of these may present as gastric mucosal polyps.

To assess short- and long-term outcomes of redo ileal pouch-anal anastomosis (redo-IPAA) for failed IPAA, comparing them with those of successful IPAA.
This was a case-control study. Data were collected retrospectively from prospectively maintained databases from two tertiary care centres. Patients who had a redo-IPAA between 1999 and 2016 were identified and matched (1:2) with patients who had a primary IPAA (p-IPAA), according to diagnosis, age and body mass index.
Thirty-nine redo-IPAAs (16 transanal and 23 abdominal procedures) were identified, and were matched with 78 p-IPAAs. After a mean follow-up of 56 ± 51  (2.6-190) months, failure rates after transanal and abdominal approaches were 50% and 15%, respectively. Reoperation after the transanal approach was higher than after p-IPAA (69% vs 7%; P < 0.001). No differences were noted between the abdominal approach for redo-IPAA and p-IPAA in terms of morbidity (61% for redo-IPAA vs 38% for p-IPAA; P = 0.06), major morbidity (9% vs 8%; P = 0.96), anastomotic leakage (13% vs 10%; P = 0.74), mean daily bowel movements (6 vs 5.5; P = 0.68), night-time bowel movements (1.2 vs 1; P = 0.51), faecal incontinence (13% vs 7%; P = 0.40), urgency (31% vs 27%; P = 0.59), use of anti-diarrhoeal drugs (47% vs 37%; P = 0.70), mean Cleveland Global Quality-of-Life score (7 vs 7; P = 0.83) or sexual function.
The abdominal approach for redo-IPAA is justified in cases of pouch failure because it achieves functional results comparable with those observed after p-IPAA, without higher postoperative morbidity. The transanal approach should be chosen sparingly.

Colorectal cancer (CRC) is a leading causes of cancer death among men and women. The purpose of this study was to determine the prevalence of oligopolyposis (≥20 synchronous colorectal adenomas) and its associated clinicopathological characteristics in Hispanics with incident CRC.
Pathology reports from individuals diagnosed with CRC (2007 to 2011) were obtained from the PR Central Cancer Registry. Colorectal polyp burden was calculated using pathology reports and the data was normalized to colon segment size. Comparisons of demographic and clinicopathological characteristics by synchronous oligopolyposis status (<20 vs. <= *20) were performed using the chi-square or Fisher\'s exact test. Multivariate logistic regression models were fitted to estimate the adjusted prevalence odds ratios (aPOR), with 95% confidence intervals (CI). All analyses were performed using Stata (v.12.0).
Analyses of 1,573 colectomy specimens was performed. Oligopolyposis was observed in 9.47% (149 of 1,573) of the subjects with incident CRC. Increasing age (aPOR50-64 = 1.72, 95% CI: 0.59-5.02; aPOR65-74 = 1.83, 95% CI: 0.64-5.27; aPOR≥75 = 2.67, 95% CI: 0.93-7.64) and proximal CRC tumor location (POR = 2.91, 95% CI:1.98-4.30) were significantly associated with having oligopolyposis at CRC diagnosis. However, subjects diagnosed with CRC at a regional stage (aPORRegional = 0.50, 95% CI: 0.32-0.79) or distant stage (aPORDistant = 0.45, 95% CI: 0.29-0.69) were less likely to have synchronous oligopolyposis (p<0.05).
Our findings suggest that genetic syndromes associated with colorectal polyposis may be implicated in a higher than expected number of CRC cases. Individuals with CRC and synchronous oligopolyposis should receive genetic counseling.