Search

The timing of prophylactic colorectal surgery in patients with familial adenomatous polyposis (FAP) is based on the immediacy of the colorectal cancer risk. The ability to predict the need for surgery may help patients and their families plan in the context of life events and CRC risk. We created a model to predict the likelihood of surgery within 2 and 5 years of first colonoscopy at our institution. A single institution hereditary colorectal syndrome (Cologene™) database was interrogated for all patients with FAP having a deleterious APC mutation. Patients with first colonoscopy after age 30 and before year 2000 were excluded. Cox regression analysis was done to assess multiple factors associated with surgery, followed by stepwise Cox regression analysis to select an optimal model. Receiver operator curve (ROC) analysis was performed to assess the model. A total of 211 (53% female) patients were included. Forty-five percent underwent surgery after an average of 3.8 years of surveillance. The final model was created based on initial clinical characteristics (age, gender, BMI, family history of desmoids, genotype–phenotype correlation), initial colonoscopic characteristics (number of polyps, polyp size, presence of high-grade dysplasia); and on clinical events (chemoprevention and polypectomy). AUC was 0.87 and 0.84 to predict surgery within 2 and 5 years, respectively. The final model can be accessed at this website: http://app.calculoid.com/#/calculator/29638 . This web-based tool allows clinicians to stratify patients’ likelihood of colorectal surgery within 2 and 5 years of their initial examination, based on clinical and endoscopic features, and using the philosophy of care guiding practice at this institution.

Data comparing surgical outcomes and quality of life (QOL) following perineal repair of rectal prolapse are limited. The aim of our study was to compare the short-term outcome and QOL of two perineal procedures in patients with rectal prolapse. All patients with full-thickness rectal prolapse admitted to our institution and undergoing Delorme and Altemeier procedures from 2005 to 2013 were identified using an institutional, IRB-approved rectal prolapse database. Short-term outcomes and QOL were compared. Seventy-five patients (93 % female) underwent rectal prolapse surgery: 22 Altemeier and 53 Delorme, mean age 72 ± 15 years. Sixty-six percentage of patients were ASA grade III or IV (Table 1). The median hospital stay was longer in Altemeier’s group [4 (1–44) days vs. 3 (0–14) days; p = 0.01]. After a median follow-up of 13 (1–88) months, the rate of recurrent prolapse was 14 % (n = 11) [Altemeier 2 (9 %) vs. Delorme 9 (16 %) p = 0.071]. Postoperative complication rate was 12 % (n = 9) [Altemeier 5 (22 %) vs. Delorme 4 (7 %), p = 0.04]. There was no mortality. The Cleveland Global Quality of Life scores in each group were 0.6 ± 0.2 and 0.5 ± 0.3, respectively (p = 0.59), and were not changed by the surgery. In patients where abdominal repair of rectal prolapse is judged to be unwise, a Delorme procedure offers short-term control of the prolapse with low risk of complications and with reasonable function. In addition, patients that recur after a Delorme procedure can undergo another similar transanal procedure without compromising the vascular supply of the rectum.

Carriers of germline mutations in DNA mismatch repair (MMR) genes are at increased risk of several cancers including colorectal and gynecologic cancers (Lynch syndrome). There is no substantial evidence that these mutations are associated with an increased risk of cervical cancer. A total of 369 families with at least one carrier of a mutation in a MMR gene (133 MLH1, 174 MSH2, 35 MSH6 and 27 PMS2) were ascertained via population cancer registries or via family cancer clinics in Australia, New Zealand, Canada, and USA. Personal and family histories of cancer were obtained from participant interviews. Modified segregation analysis was used to estimate the hazard ratio (incidence rates for carriers relative to those for the general population), and age-specific cumulative risks of cervical cancer for carriers. A total of 65 cases of cervical cancer were reported (including 10 verified by pathology reports). The estimated incidence was 5.6 fold (95% CI: 2.3-13.8; p = 0.001) higher for carriers than for the general population with a corresponding cumulative risk to 80 years of 4.5% (95% CI: 1.9-10.7%) compared with 0.8% for the general population. The mean age at diagnosis was 43.1 years (95% CI: 40.0-46.2), 3.9 years younger than the reported USA population mean of 47.0 years (p = 0.02). Women with MMR gene mutations were found to have an increased risk of cervical cancer. Due to limited pathology verification we cannot be certain that a proportion of these cases were not lower uterine segment endometrial cancers involving the endocervix, a recognized cancer of Lynch syndrome.

Desmoid disease can be a serious, life-threatening complication of familial adenomatous polyposis. The ability to predict patients at increased desmoid risk is important, but a convincing genotype-phenotype correlation for desmoid formation has not yet been described.The aim of this study is to assess the relationship between desmoid disease and genotype in patients with familial adenomatous polyposis.This is a cohort study.All patients with familial adenomatous polyposis and a documented pathogenic APC mutation in themselves or a first-degree relative were selected.The comparison of genotype and the presence, stage, and site of desmoid disease are the primary end points of this study.Three hundred twenty-three patients from 219 families were identified. Mutations spanned the length of the gene, from codon 213 to codon 2051. Desmoid disease was diagnosed in 77 patients from 68 families. Desmoid disease was found in 14.9% of patients with a mutation 5' of codon 400, 23.2% of patients with a mutation from codon 401 to 1400, and in 37.1% of those with a mutation 3' of 1400. All patients with 5' mutations had stage I or II abdominal desmoid disease, and all tumors were stable or shrinking. Twelve percent of patients who had desmoid disease with mutations between codons 400 and 1400 had stage III or IV desmoid disease, and 5 of 42 (12%) tumors were growing at the time of the study. There had been 2 desmoid-related deaths. Almost half (44%) of patients who had desmoid disease with mutations 3' of codon 1400 had stage III or IV disease. Three of 14 tumors were growing (21%), and there were 4 desmoid-related deaths.This study was conducted at a tertiary referral center, and there was no systematic surveillance for desmoids.Desmoid disease occurs in patients who have familial adenomatous polyposis with almost any APC mutation, although there is an increased propensity in those with a 3' mutation. The incidence and severity of the desmoid disease are related to the site of the mutation.

Patients with 10 or more lifetime adenomas are candidates for genetic counseling and testing for polyposis syndromes. Lynch syndrome falls under the umbrella of hereditary nonpolyposis colorectal cancer, and it is assumed that patients with Lynch syndrome do not develop multiple adenomas.The objective of this study was to document the number of adenomas in patients with Lynch syndrome.This was a retrospective review of clinical, colonoscopy, and pathology records of patients with Lynch syndrome in a prospectively maintained hereditary colorectal cancer database.The study was conducted at a single-institution tertiary care center with specialized practice in hereditary colorectal cancer syndromes.We included 263 patients with a germline mutation in 1 of the 4 DNA mismatch repair genes.Colonoscopy and polypectomy were the study interventions.The lifetime cumulative number of colorectal adenomas and their characteristics were measured.A total of 107 of the 263 patients had 1 or more adenomas. Sixty-one patients had 1 adenoma, 29 (11%) had 2 to 5 adenomas, 6 (2%) had 6 to 9 adenomas, and 11 patients (4%) had 10 or more cumulative adenomas. The maximum number of synchronous adenomas in any individual was 22, and the maximum number of cumulative adenomas in any individual was 24. Twenty-four of the 107 patients with adenomas underwent a total colectomy or proctocolectomy and were excluded from long-term follow-up. In the remaining 83 patients with adenomas, 426 colonoscopies were performed. A total of 220 (54%) were normal or had hyperplastic polyps; 313 adenomas were found in 206 examinations (46%), and 123 (39%) of the adenomas were advanced.There was variability in the interval of colonoscopy surveillance. Some patients had a variant of unknown significance and were separated from those with a deleterious mutation.Although 10 or more adenomas prompt testing for polyposis syndromes, Lynch syndrome should also be considered in the differential diagnosis.

Purpose Prior studies suggest cigarette smoking is associated with 1.5- to twofold increased risk of colorectal adenomas and possibly a higher risk of serrated polyps. Further clarification of risk differences between adenomas and serrated polyps is needed with regard to co-occurrence and polyp location. Methods We conducted a combined analysis of conventional adenoma and serrated polyp occurrence using individual-level data from 2,915 patients participating in three colonoscopy-based clinical trials. All participants had ≥1 adenomas removed at baseline and were followed for up to 4 years. Smoking habits and other lifestyle factors were collected at baseline using questionnaires. We used generalized linear regression to estimate risk ratios and 95 % confidence intervals. Results Smokers were at slightly increased risk of adenomas compared to never smokers [current: RR 1.29 (95 % CI 1.11–1.49) and former: RR 1.18 (1.05–1.32)]. Smoking was associated with greater risk of serrated polyps [current: RR 2.01 (1.66–2.44); former: RR 1.42 (1.20–1.68)], particularly in the left colorectum. Associations between current smoking and occurrence of serrated polyps only [RR 2.33 (1.76–3.07)] and both adenomas and serrated polyps [RR 2.27 (1.68–3.06)] were more pronounced than for adenomas only [RR 1.31 (1.08–1.58)]. Results were similar for other smoking variables and did not differ by gender or for advanced adenomas. Conclusions Cigarette smoking has only a weak association with adenomas, but is associated with a significantly increased risk of serrated polyps, particularly in the left colorectum. Since a minority of left-sided serrated polyps is thought to have malignant potential, the role of smoking in initiation phases of carcinogenesis is uncertain.

Discerning the genetics of hereditary colorectal cancer syndromes has enabled a more individualized approach to preventing and treating colorectal cancers in affected patients and families. As these syndromes carry significant risk of colorectal cancer (nearly 100% in some cases), prophylactic colectomy is an important option for preventing cancer. This article addresses the rationale and indications for prophylactic colectomy in hereditary colorectal cancer syndromes, and provides insight into the details of surgical management. J. Surg. Oncol. 2015 111:112–117. © 2014 Wiley Periodicals, Inc.

Background Germline mutations in SMAD4 and BMPR1A disrupt the transforming growth factor β signal transduction pathway, and are associated with juvenile polyposis syndrome. The effect of genotype on the pattern of disease in this syndrome is unknown. This study evaluated the differential impact of SMAD4 and BMPR1A gene mutations on cancer risk and oncological phenotype in patients with juvenile polyposis syndrome. Methods Patients with juvenile polyposis syndrome and germline SMAD4 or BMPR1A mutations were identified from a prospectively maintained institutional registry. Medical records were reviewed and the clinical patterns of disease were analysed. Results Thirty-five patients had germline mutations in either BMPR1A (8 patients) or SMAD4 (27). Median follow-up was 11 years. Colonic phenotype was similar between patients with SMAD4 and BMPR1A mutations, whereas SMAD4 mutations were associated with larger polyp numbers (number of patients with 50 or more gastric polyps: 14 versus 0 respectively). The numbers of patients with rectal polyps was comparable between BMPR1A and SMAD4 mutation carriers (5 versus 17). No patient was diagnosed with cancer in the BMPR1A group, whereas four men with a SMAD4 mutation developed gastrointestinal (3) or extraintestinal (1) cancer. The gastrointestinal cancer risk in patients with juvenile polyposis syndrome and a SMAD4 mutation was 11 per cent (3 of 27). Conclusion The SMAD4 genotype is associated with a more aggressive upper gastrointestinal malignancy risk in juvenile polyposis syndrome.

Aim Although sporadic colorectal cancer (CRC) usually occurs in patients over 50, recent evidence suggests that the incidence is increasing in younger patients. Such patients are theoretically at high risk of metachronous neoplasia and may be candidates for extended, prophylactic, colectomy. This study aimed to define the risk of metachronous cancer/adenomas during follow-up of younger patients who underwent segmental colectomy for CRC. Method A CRC database was used to identify patients aged less than 50 who underwent surgery for CRC between 1994 and 2010.. Patients diagnosed with hereditary cancer or inflammatory bowel disease were excluded. The primary endpoints were frequency of extended resections, and the rates of metachronous cancer and high-risk adenomas during follow-up. Results There were 284 young patients with a resectable primary tumor, of which 280 (98.6%) underwent segmental resection, 3 (1%) extended and 1 (0.4%) local. Endoscopic follow-up was available for 150 of the patients who had segmental colectomy, with mean age 42.6 years (±5.8) at diagnosis and median follow-up time of 68 months (IQR, 45-105). Out of these 150 patients, 4 (2.7%) developed metachronous colonic adenocarcinoma at 24, 71, 151 and 228 months after index surgery. Thirty additional patients had at least one adenoma identified during surveillance, and 3 had sessile serrated polyps. Out of the 3 patients undergoing extended resection, none had metachronous cancer or advanced adenomas at an average follow up of 17 years. Conclusion A segmental colectomy or proctectomy is adequate treatment for patients presenting with colorectal cancer under age 50. . This article is protected by copyright. All rights reserved.

Limited data on the relationship between postoperative complications (POCs) after colorectal cancer resection and oncologic outcomes are available. We hypothesized that the increased severity of POCs is associated with progressively worse oncologic outcomes. Patients with pathological stages I–III colorectal adenocarcinoma undergoing elective curative resection in a single institution between 2000 and 2012 were identified from a prospectively collected database. The severity of POCs was determined using the Clavien–Dindo classification, and oncologic outcomes were assessed. Of 2266 patients, 669 (30%) had at least one POC. POCs were not associated with pathologic stage (p = 0.58) or use of adjuvant therapy (p = 0.19). With a mean follow-up of 5.3 years, POCs were associated with decreased 5-year overall survival (OS) (60% vs. 77%, p

Severity of Clostridium difficile infection (CDI) varies from one patient to another. We aimed to test the hypothesis that surgical patients would suffer more severe CDIs than medical patients. Patients receiving in-hospital medical or surgical treatment for any underlying disease from 2007 to 2012, who developed CDI, were divided into two groups: "Medical group" and "Surgical group." Demographics, disease characteristics, and outcomes including mortality and recurrence were compared. Of 3231 patients with CDI evaluated, 1984 (61.4%) and 1247 (38.6%) were medical and surgical patients, respectively. Surgical patients had more severe CDIs than medical. However, the long-term effects of CDI were worse in medical patients, with more and quicker deaths. Recurrence was comparable between groups. Surgical patients were more frequently male, older, and obese; had higher white blood cells but lower levels of hemoglobin, hematocrit, and prealbumin; and had a higher rate of severe CDI. Conversely, medical patients had fewer in-hospital days, CDI appeared earlier, and had greater 30-day mortality and total number of deaths, with death after CDI occurring earlier. Although surgical patients tend to have a stormier clinical course related to CDI, overall they do better than medical patients. Future studies focusing on modifiable risk factors for each group are needed.

The highest cancer risks in familial adenomatous polyposis (FAP) include colorectal, duodenal, and thyroid for which surveillance is recommended. Nearly all patients with FAP have gastric fundic gland polyposis (FGP), but gastric cancers are rarely reported with a similar incidence as the general population. We describe a recent, sudden increase in the incidence of gastric cancer in FAP. Seven of the ten cases were diagnosed in the last 20 months. Comparing our population to the SEER database for gastric cancer, the standardized incidence ratio is 140. All cases arose in patients with a carpeting of FGP and associated with large mounds of proximal gastric polyps. Nearly all patients were under upper endoscopic surveillance. This is a concerning observation and reflects a change in the phenotypic presentation of FAP in Western patients.

Familial adenomatous polyposis (FAP) is a dominantly inherited form of cancer predisposition due to a germline mutation in the colorectal cancer gateway gene, APC. The syndrome usually presents as colorectal adenomatous polyposis of varying severity, which, if untreated, will lead to colorectal cancer at a young age. While other organs are also affected by the cancer predisposition, by far the most serious threat to life and lifestyle comes from the large bowel. This is therefore the initial focus of treatment.

There is more to a high-quality colonoscopy than reaching the cecum or finding adenomas. Gentle insertion involves ancillary techniques, some of which are impossible in patients receiving deep sedation. The aim of this study was to assess the importance of ancillary techniques in achieving a comfortable, complete colonoscopy. This was a prospective study of 500 consecutive outpatient colonoscopies performed by a single endoscopist. During the procedure, note was taken of various ancillary techniques used to facilitate insertion: turning the patient, patient holding their breath, abdominal pressure. The success of these techniques in helping scope advancement was also noted. After the procedure the patient was asked to rate the severity of their pain and their degree of satisfaction with the examination. A total of 238 women and 262 men participated in the study, and colonoscopy was complete in 96.2 and 98.5 %, respectively. Overall, 97 % of patients received versed alone (average dose 2 mg), and 3 % received a narcotic (average dose 46 U). Average pain score was 3.9 on a scale of 1 (least pain) to 10 (worst pain), and average satisfaction with the procedure as a whole was 9.5 on a similar scale. Ancillary techniques of holding breath, directed abdominal pressure, and turning to the left, right, and prone were used in 46, 56, 17, 23, and 4 % of examinations, respectively. Each technique was effective in helping insertion in over 70 % of cases. Turning the patient was also used to clear stool, open the colon, or facilitate polypectomy in another 33 cases. Multiple techniques were used in 49 % of patients. The use of ancillary techniques to facilitate colonoscope insertion helps avoid the expense and potential side effects of deep sedation.

Colonoscopists differ in skill, technique, and attitude in relation to the examination. These differences have a potential impact on the quality of the examination and the risk of complications. This study aimed to document differences in technique between individual colonoscopists and to explore some possible consequences to the patient and the examination. This prospective, comparative study analyzed 10 individual endoscopists practicing in outpatient endoscopy clinics at a major medical center. Consecutive patients presenting for elective outpatient colonoscopy were included in the study. Examinations were observed, and techniques used during scope insertion and withdrawal were recorded. The type and dose of medication, the pain score recorded by the endoscopy nurses (scale of 1–10), and the incidence of hypotension and hypoxia were noted. The study involved 245 patients (129 men and 116 women) with a mean age of 59.5 years. The number of colonoscopies per examiner ranged from 12 to 31, with nine tenths of the examiners performing more than 20 colonoscopies. Completion rates ranged from 82.6 to 100 %; the withdrawal time averages ranged from 3.5 to 21.7 min; and the average number of techniques used ranged from one per four exams to three per exam. The average pain score per endoscopist ranged from 2.1 to 4.3, and the percentage of patients with either hypoxia or hypotension ranged from 11.5 to 85.0 %. A sedation/analgesia product (SAP) was derived by multiplying the mean dose of versed by the mean dose of meperidine. Regression analysis showed significant relationships between the number of techniques used and the levels of pain (R 2 = 0.395) and hypoxia/hypotension (R 2 = 0.513). The findings showed that SAP was significantly associated with hypoxia/hypotension (R 2 = 0.826) but not pain (R 2 = 0.01). Use of ancillary techniques for colonoscope insertion minimizes pain, narcotic use, and hypoxia/hypotension. The product of benzodiazepine dose and narcotic dose is a good way of assessing sedative effect.

The purpose of most colonoscopies is to detect and treat colorectal neoplasia, preventing or providing early diagnosis of cancer. Basic to this mission is the recognition and diagnosis of neoplasms. Recent data suggest that detection of neoplasia during colonoscopy is suboptimal, resulting in a failure of screening colonoscopy as an efficient strategy for the prevention of cancer. In this article, the ramifications of these observations are examined and their relevance to the practice of colonoscopy considered.

β-catenin immunohistochemical stain can be useful in the diagnosis of many tumors including desmoid-type fibromatosis (DTF). Lymphoid enhancer-factor 1 (LEF1), a recently emerged marker, is part of the Wnt pathway with β-catenin but has not been studied in DTF. We performed LEF1 and β-catenin immunohistochemistry in DTF (n=26), superficial fibromatosis (n=19), sclerosing mesenteritis (n=12), gastrointestinal stromal tumor (n=17), and cutaneous scar (n=14) using tissue microarray and whole sections. The staining intensity was scored as strong (visible at ×2 objective, value of 3), moderate (visible at ×4, value of 2), weak (visible at ×10, value of 1), and negative (not visible at ×10, value of 0). The percentage of positive nuclei was recorded in 10% increment. Histologic scores were generated by multiplying numerical value of intensity and percentage of positive nuclei. A score of at least 10 was defined as positive. Eighteen of the 25 DTF were positive for LEF1 while 12 of 25 were positive for β-catenin (1 excluded due to loss of tissue). Gastrointestinal stromal tumor cases were negative for both markers. All superficial fibromatoses were negative except 2 cases with weak positivity for LEF1 but not β-catenin. Only 2 case of sclerosing mesenteritis were weakly positive for LEF1 but negative for β-catenin. Ten of 14 scars were positive for LEF1 but only 1 of them was weakly positive for β-catenin. In conclusion, this study demonstrated that LEF1 may be a useful marker in the differential diagnosis of DTF in certain contexts. However, caution should be exercised since LEF1 positivity can also be seen in scars.

OBJECTIVES: Duodenal cancer in familial adenomatous polyposis (FAP) arises from adenomas. Differentially expressed genes (DEGs) in the duodenal adenoma-carcinoma pathway have been identified in murine FAP models, but similar data in patients with FAP are limited. Identifying such changes may have significance in understanding duodenal polyposis therapies and identifying cancer biomarkers. We performed a genome-wide transcriptional analysis to describe the duodenal adenoma-carcinoma sequence and determine changes distinguishing patients with FAP with and without duodenal cancer. METHODS: Transcriptional profiling was performed with the Affymetrix Human Transcriptome Array 2.0 on duodenal biopsies from 12 FAP patients with duodenal cancer (FAP cases) and 12 FAP patients without cancer (FAP controls). DEGs were compared between cancer-normal, adenoma-normal, and cancer-adenoma in FAP cases and between adenomas from FAP cases and FAP controls. Significant results at P < 0.05 were filtered using fold change > 2. RESULTS: Two hundred twenty-four DEGs were identified at an absolute fold change > 2. In adenoma-normal, downregulation of DEGs involved in metabolism of brush border proteins (LCT), lipids (APOB/A4), reactive oxygen species (GSTA2), and retinol (RBP2) was observed. In the cancer-adenoma comparison, upregulation of DEGs involved in cell invasion/migration (POSTN, SPP1) and downregulation of DEGs involved in Paneth differentiation (DEFA5/6) were observed. In the adenoma-adenoma comparison, downregulation of several DEGs (CLCA1, ADH1C, ANXA10) in FAP case adenomas was observed. DEGs with therapeutic potential include SPP1, which is involved in both cyclooxygenase and epidermal growth factor receptor pathways targeted by the sulindac/erlotinib combination for duodenal polyposis. DISCUSSION: We describe DEGs in the human duodenal adenoma-carcinoma sequence in FAP, which may have prognostic and therapeutic significance. Validation studies are needed to confirm these findings.

The greatest known risk factor for duodenal cancer in familial adenomatous polyposis (FAP) is Spigelman stage (SS) IV duodenal polyposis. Endoscopic surveillance is recommended in FAP patients with SS 0 to IV, and prophylactic duodenectomy should be considered in SS IV. Cancer occurs in patients without SS IV polyposis. We assessed the relationship of SS and other factors with duodenal cancer in FAP.We performed a case-control study on 18 FAP patients with duodenal cancer and 85 randomly selected FAP control subjects with similar age characteristics. Demographic, clinical, and endoscopic features were compared using univariate and logistic regression analyses to assess factors associated with duodenal cancer.Fifty-three percent of cases had no SS IV history. SS components positively associated with cancer included duodenal polyp size (77% vs 47%, P = .015), and high-grade dysplasia (HGD; 29% vs 6%, P = .003) but not polyp number or histology. In the papilla, the frequency of tubulovillous or villous histology (80% vs 22%, P .001) and HGD (30% vs 4%, P = .010) was greater in cases than control subjects.SS IV polyposis was absent in half of FAP patients with duodenal cancer. Only 2 of 4 SS components (large duodenal polyp size and HGD) were positively associated with duodenal cancer. Advanced pathology of the papilla appears to be an important feature. Revision of SS to emphasize these findings should be considered to better estimate cancer risk.

Aim Intra-abdominal desmoid disease is one of the most common extra-intestinal manifestations of familial adenomatous polyposis. Small bowel obstruction occurs frequently in affected patients and is notoriously difficult to treat. The aim of this study was to review the management and outcome of desmoid-related small bowel obstruction. Method This was a retrospective, descriptive study of patients with familial adenomatous polyposis and intra-abdominal desmoid disease who developed small bowel obstruction. Demographic data and data concerning the presentation, diagnosis and treatment of the bowel obstructions were abstracted from the polyposis database or patients’ records. Patients with obstruction unrelated to desmoid disease were excluded. Results There were 47 patients (30 women and 17 men). Median age at first bowel obstruction was 24.2 (interquartile range 19.2–34.2) years. The median time from index surgery to first bowel obstruction was 4.1 (interquartile range 1.5–9.0) years. Twenty-two patients had a colectomy and ileorectal anastomosis and 21 a proctocolectomy and ileoanal pouch. Obstruction was treated medically in 29% of cases and surgically in 69%. Thirteen patients had total parental nutrition. Thirty (63.8%) had a second episode of small bowel obstruction at a mean of 5.3 years after the first, 50% of which were treated medically. Eighteen (37.5%) patients had more than two episodes of bowel obstruction. There were 118 operations, including lysis of adhesions (29), small bowel resection (14), bypass (12), ileostomy (12), desmoid excision (9) and stricturoplasty (2). Conclusion Desmoid-related small bowel obstruction in familial adenomatous polyposis patients requires multiple surgical strategies to restore a patent gastrointestinal tract. What does this paper add to the literature? This is the only series in the literature specifically addressing small bowel obstruction in patients with familial adenomatous polyposis and intra-abdominal desmoid disease. The data show that small bowel obstruction is common, tends to recur, but can be successfully managed by a combination of medical and well selected surgical treatment.

Background Young patients with colorectal cancer (CRC) present a diagnostic and clinical challenge. The aim of our study was to survey the approaches to preoperative evaluation and clinical management of young patients with CRC by colorectal surgeons in North America.

Background When patients with stage IV colorectal cancer are deemed to have an unresectable primary colorectal cancer or extensive metastases at surgery, bypass or stoma creation may be the only surgical options. Whether this surgical approach provides extra months of life or instead leads to prohibitive post-operative morbidity and mortality has not previously been well characterized. This study was conducted to evaluate early and long-term outcomes for stage IV colorectal cancer patients with unresectable primary tumour. Methods Patients with unresectable colorectal cancer who underwent palliative bypass or stoma creation were identified from a prospective colorectal cancer database. Early and long-term outcomes were evaluated. Survival was determined using Kaplan–Meier survival curves. Results From 1980 to 2008, 81 patients with stage IV colorectal cancer had an unresectable primary or extensive metastases and underwent palliative bypass or stoma creation. Mean age was 61.5 ± 13.9 years, 44 (54.3%) were male. Location of the colorectal cancer was left-sided in 82.7%. Of the patients, 38.3% had emergency or urgent surgery. Sixty-two (76.5%) patients underwent a diverting stoma, 15 (18.5%) underwent enteric bypass procedures and 4 (4.9%) had both a diverting stoma and proximal bypass created. Twenty-five complications occurred in 24 patients (29.6%) with 2 patients (2.5%) requiring further re-operation. There was no anastomotic leak. Mean length of hospital stay was 13.8 ± 11.2 days. Thirty-day mortality rate was 16%. The median overall survival was 4.7 months, while the overall survival at 1 year was 24.7%. At 2 years, 6.1% patients were alive, all with a stoma. Conclusion Palliative bypass or stoma creation is associated with survival for several months for a significant proportion of patients with stage IV colorectal cancers, who have unresectable primaries or extensive metastases. The findings of this study support the use of bypass or diversion when faced with an unresectable primary in patients with colorectal cancer with metastases.

Background Restorative proctocolectomy and IPAA in patients with familial adenomatous polyposis may leave residual anal transitional zone mucosa that is prone to neoplasia. Objective The aim of this study was to evaluate the long-term control of neoplasia at the IPAA, the functional outcomes, and the influence of anastomotic technique on these results. Design : This research is a retrospective cohort study from a prospective database. Setting The investigation took place in a high-volume specialized colorectal surgery department. Patients Patients with familial adenomatous polyposis who underwent IPAA between 1983 and 2010 were included. Main outcome measures The primary outcomes measured were functional outcomes, quality of life, and the incidence of neoplasia in the anal transitional zone. Results Eighty-six patients underwent mucosectomy and 174 underwent stapled anastomosis with mean 155 ± 99 and 95 ± 70 months follow-up. Eighteen patients (20.9%) in the mucosectomy group and 59 patients (33.9%) in the stapled group developed anal transitional zone adenomas (p = 0.03). One of 86 (1.2%) patients undergoing mucosectomy and 3 of 174 (1.7%) patients undergoing stapled anastomosis developed cancer in the anal transitional zone (p > 0.05). Three of these patients underwent an abdominoperineal resection, but one who refused abdominoperineal resection underwent transanal excision with neoileoanal anastomosis. Patients undergoing a mucosectomy had a significantly higher rate of anastomotic stricture, but other complications were similar. Incontinence, seepage, and pad usage were higher in the mucosectomy group. Cleveland global quality-of-life score was 0.8 ± 0.2 in patients with handsewn anastomoses and 0.8 ± 0.3 in patients with a stapled anastomoses (p > 0.05). Limitations This study was limited by its nonrandomized retrospective design. Conclusions Risk for the development of adenomas in the anal transitional zone is higher after a stapled IPAA than after a mucosectomy with handsewn anastomosis. However, control of anal transitional zone neoplasia results in a similar risk of cancer development. Because the stapled procedure is associated with better long-term functional outcomes than a mucosectomy, stapled IPAA is the preferable procedure for most patients with familial adenomatous polyposis.

Introduction When severe chronic pelvic pain, constipation, and bloating are due to dense pelvic adhesions fixing the sigmoid loops, patients may be offered the option of sigmoid colectomy. This study examines the effectiveness of colectomy in the treatment of such patients. Methods Patients were identified from a surgical database, demographic data were abstracted, and charts were reviewed. Patients were interviewed postoperatively. Primary end points were morbidity, length of stay, change in bowel habit, and patient satisfaction. Results There were 46 patients (44 women) with a mean age of 54.7 years (±14.3). Forty-three had a history of prior pelvic surgery (93 %), including 30 (65 %) with hysterectomy. One quarter had been diagnosed with irritable bowel syndrome. Surgeryrevealedadhesivetetheringofthesigmoidcolonin43 patients (94 %). Mean length of stay was 6.5 days (±2.5), and complications occurred in eight (17.3 %) patients. There were no deaths, and no patients required a stoma. Followup in 37 patients after mean of 7.2(±5.0)years showed significant reductions in abdominal pain and bloating postoperatively, with normalization of bowel function and increase in quality of life. Conclusion When severe lower abdominal pain and bloating in women who have had pelvic surgery are reproduced by colonoscopy, and there is an obvious kink in the bowel, sigmoid colectomy is worth considering.

The ability to accurately predict postoperative mortality is expected to improve preoperative decisions for elderly patients considered for colorectal surgery.Patients undergoing colorectal surgery were identified from the National Surgical Quality Improvement Program database (2005-2007) and stratified as elderly (70 years) and nonelderly (70 years). Univariate analysis of preoperative risk factors and 30-day mortality and morbidity were analyzed on 70% of the population. A nomogram for mortality was created and tested on the remaining 30%.Of 30,900 colorectal cases, 10,750 were elderly (70 years). Mortality increased steadily with age (0.5% every 5 years) and at a faster rate (1.2% every 5 years) after 70 years, which defined "elderly" in this study. Elderly (mean age: 78.4 years) and nonelderly patients (52.8 years) had mortality of 7.6% versus 2.0% and a morbidity of 32.8% versus 25.7%, respectively. Elderly patients had greater preoperative comorbidities including chronic obstructive pulmonary disease (10.5% vs 3.8%), diabetes (18.7% vs 11.1%), and renal insufficiency (1.7% vs 1.3%). A multivariate model for 30-day mortality and nomogram were created. Increasing age was associated with mortality [age70 years: odds ratio (OR) = 2.0 (95% confidence interval (CI): 1.7-2.4);85 years: OR = 4.3 (95% CI: 3.3-5.5)]. The nomogram accurately predicted mortality, including very high-risk (50% mortality) with a concordant index for this model of 0.89.Colorectal surgery in elderly patients is associated with significantly higher mortality. This novel nomogram that predicts postoperative mortality may facilitate preoperative treatment decisions.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and an increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a cause for PJS. The aim of this study was to characterize the genotype of Chilean PJS patients. Mutation screening of 13 patients from eight PJS families was performed using a single strand conformation polymorphism analysis, DNA sequencing and multiplex ligation-dependent probe amplification assay. The breakpoints of the genomic rearrangements were assessed by a long-range polymerase chain reaction and sequencing. The results revealed the existence of seven different pathogenic mutations in STK11 gene in seven unrelated families, including three point mutations and four large genomic deletions. Three of these point mutations (43%, 3/7) may be considered as novel. Our results showed that a germline mutation is present in STK11 in 88% of probands fulfilling the diagnostic criteria of PJS. In this study, the combination of two different experimental approaches in the screening of the STK11 in PJS, led to a higher percentage of mutation detection.

Microsatellite stable (MSS), CpG island methylator phenotype (CIMP)-negative colorectal tumors, the most prevalent molecular subtype of colorectal cancer, are associated with extensive copy number alteration (CNA) events and aneuploidy. We report on the identification of characteristic recurrent CNA (with frequency >25%) events and associated gene expression profiles for a total of 40 paired tumor and adjacent normal colon tissues using genome-wide microarrays. We observed recurrent CNAs, namely gains at 1q, 7p, 7q, 8p12-11, 8q, 12p13, 13q, 20p, 20q, Xp, and Xq and losses at 1p36, 1p31, 1p21, 4p15-12, 4q12-35, 5q21-22, 6q26, 8p, 14q, 15q11-12, 17p, 18p, 18q, 21q21-22, and 22q. Within these genomic regions we identified 356 genes with significant differential expression (P70% of the tumor samples at 20q11-20q13 contained several cancer-related genes (AHCY, POFUT1, RPN2, TH1L and PRPF6) that were up-regulated and demonstrated a significant linear correlation (P50% of the tumor samples and demonstrated a significant linear correlation for gene dosage and gene expression for two potential tumor suppressor genes, MTUS1 (8p22) and PPP2CB (8p12). The results from our integration analysis illustrate the complex relationship between genomic alterations and gene expression in colon cancer.

Serrated polyps of the large bowel are potentially premalignant, difficult to see, but important to remove. Few studies describe the technique or outcomes of serrated polypectomy. We sought to present outcomes of a series of polypectomies of large serrated polyps in comparison to a series of endoscopic resections of large adenomas. This retrospective, comparative, single endoscopist study was performed in an outpatient colonoscopy department of a tertiary referral medical center. Patients had outpatient colonoscopy where a large (≥2 cm) serrated polyp or adenoma was removed. Outcomes were completeness of excision and complications of polypectomy. A database of endoscopic polypectomies was reviewed. Polypectomy of large serrated polyps was compared with polypectomy of large adenomas. There were 132 large serrated polyps in 112 patients and 563 adenomas in 428 patients. More serrated polyps were right sided (120 of 130, 92.3 %, vs. 379 of 563, 67 %) (p

Colorectal cancer is an invasive neoplasm of the glandular epithelium of the colon and rectum that begins in a precursor lesion and expands to replace its lesion of origin. The majority of colorectal cancers arise from an adenoma, and the ‘adenoma to carcinoma’ pathway has been acknowledged for decades. More recently, another precursor lesion has been recognized: the serrated polyp. Serrated polyps are characterized by a sawtooth appearance of the crypt epithelium resulting from failure of apoptosis and a build-up of aging colonocytes. Although initially felt to be innocent of involvement in colorectal carcinogenesis, some types of serrated polyp are being increasingly recognized as precursor lesions, prone to develop into cancer, and likely to be a cause of ‘missed’ or interval cancers after colonoscopic screening. It is essential that gastrointestinal specialists appreciate the clinical significance of these lesions and what that means for colorectal cancer screening, and prevention. The purpose of this review is to highlight the importance serrated lesions of the colon and rectum, and to summarize current opinion on their natural history, diagnosis, surveillance and treatment.