[show abstract][hide abstract] ABSTRACT: BACKGROUND & AIMS: Guidelines recommend that the age of initiation and frequency of colorectal cancer screening or surveillance be based upon patients' personal and family histories of colorectal neoplasia. However, it is not clear whether patients accurately recall results from their colonoscopy examinations, or features of specific polyps. METHODS: We gave a 35-question survey to outpatients following colonoscopy examination at the Digestive Disease Institute of the Cleveland Clinic from 2008 to 2011. We collected responses from 233 participants (mean age of 59 y, 49% male); they provided demographic information, along with responses to questions on past colonoscopies, personal and family history of colorectal neoplasia, detection of polyps by colonoscopy, and number and other key features of polyps detected. Patient responses were compared with medical records. RESULTS: Of the patients surveyed, 82% correctly recalled the presence or absence of polyp(s). Of the 118 who correctly reported having polyps, 61% correctly recalled the number, 26% recalled the size, and 6%-33% recalled features of polyp pathology. Only 8% of individuals correctly recalled all 3 key features of polyps (size, number, and pathology). The patients' age when they underwent colonoscopy, current age, sex, education, or method by which they received their colonoscopy results did not significantly affect accurate their recall of the presence or key features of polyps. CONCLUSION: Eighty-two percent of patients examined by colonoscopy correctly recall whether or not they had polyp(s). However, most patients do not recall key details about their polyps (number, size, or pathology features) required to establish appropriate screening and surveillance intervals. New tools are needed to ensure that patients understand the importance of their colonoscopy findings and improve their recall accuracy.
Clinical gastroenterology and hepatology: the official clinical practice journal of the American Gastroenterological Association 12/2012; · 5.64 Impact Factor
[show abstract][hide abstract] ABSTRACT: Hereditary syndromes account for 5% to 10% of cases of colorectal cancer. In clinical practice, patients with these syndromes need to be identified to ensure that they and their families receive genetic counseling and testing and appropriate risk-reducing treatment. Genetic testing can offer a precise diagnosis. It allows for risk stratification and focused management and surveillance.
Cleveland Clinic Journal of Medicine 11/2012; 79(11):787-96. · 3.40 Impact Factor
[show abstract][hide abstract] ABSTRACT: Juvenile polyposis syndrome is a dominant GI polyposis syndrome defined by ≥ 5 GI juvenile polyps or ≥ 1 juvenile polyps with a family history of juvenile polyposis. Mutations in BMPR1A or SMAD4 are found in 50% of individuals. Hereditary hemorrhagic telangiectasia is a dominant disorder characterized by epistaxis, visceral arteriovenous malformations, and telangiectasias. Hereditary hemorrhagic telangiectasia is diagnosed when ≥ 3 criteria including clinical manifestations or a family history, are present. A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation.
Our objective was to determine the prevalence and clinical manifestations of hereditary hemorrhagic telangiectasia by Curacao criteria in our juvenile polyposis SMAD4 patients.
This was a cohort study of juvenile polyposis patients in our inherited colon cancer registries. Hereditary hemorrhagic telangiectasia manifestations were obtained from medical records, patient contact, and/or prospective hereditary hemorrhagic telangiectasia screening. The Curacao criteria was used for diagnosis of hereditary hemorrhagic telangiectasia (≥ 3 criteria diagnostic; 2 criteria suspect of).
Prevalence and clinical manifestations of hereditary hemorrhagic telangiectasia in juvenile polyposis SMAD4 patients.
Forty-one juvenile polyposis families were identified. Genetic testing was available for individuals within 18 families. SMAD4 mutations were found in 21 relatives in 9 families. Eighty-one percent of SMAD4 patients had hereditary hemorrhagic telangiectasia and 14% were suspected of having hereditary hemorrhagic telangiectasia. Epistaxis and asthma are the most common symptoms in our overlap patients. Symptomatic and subclinical arteriovenous malformations were noted near universally.
There was a single, tertiary referral center.
Nearly all juvenile polyposis SMAD4 patients have the overlap syndrome. The clinical implications and need for hereditary hemorrhagic telangiectasia screening are important factors for genetic testing in juvenile polyposis. Health care providers must be cognizant of the juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome and the implications for management of these patients.
Diseases of the Colon & Rectum 08/2012; 55(8):886-92. · 3.34 Impact Factor
[show abstract][hide abstract] ABSTRACT: Sessile serrated polyps are precursors of colorectal cancer arising from molecular pathways distinct from conventional adenomas. The association between sessile serrated polyps and conventional adenomas is not well known.
We hypothesize that individuals who have coexistent sessile serrated polyps and conventional adenomas express a more severe phenotype than those harboring lesions from only one pathway. We compare colorectal phenotypes among individuals with sessile serrated polyps, those with conventional adenomas, and those expressing both.
This investigation is a retrospective cross-sectional study of 3 cohorts.
This study was conducted in multiple centers within 1 health care system.
Individuals with sessile serrated polyps and/or conventional adenomas on first lifetime colonoscopy were included in the study.
The demographics and polyp characteristics were compared among 3 cohorts to determine the differences in phenotypic expression.
Two hundred sixty individuals with sessile serrated polyps and 173 with only conventional adenomas were included. The disease phenotype was most severe in individuals with coexistent sessile serrated polyps and adenomas. The sessile serrated polyps in this cohort were larger (P = .01) than in the serrated-only cohort. The conventional adenomas in this cohort were more numerous (P = .035) and more advanced (P = .046) than in the adenoma-only cohort. Synchronous colorectal cancers were found exclusively in the cohorts with sessile serrated polyps, although this did not reach statistical significance (P = .06).
Cross-sectional design precluded the ability to assess for metachronous lesions. Sessile serrated polyps, but not all polyps, were reviewed.
Individuals who coexpress sessile serrated polyps and conventional adenomas have an aggressive colorectal phenotype. They harbor larger sessile serrated polyps and more numerous and advanced adenomas than individuals with only sessile serrated polyps or adenomas. Synchronous colorectal cancers were found exclusively in cohorts with sessile serrated polyps. Individuals with sessile serrated polyps, especially with coexistent conventional adenomas, appear to be a high-risk group, which needs to be accounted for when calculating postpolypectomy surveillance intervals.
Diseases of the Colon & Rectum 10/2011; 54(10):1216-23. · 3.34 Impact Factor
[show abstract][hide abstract] ABSTRACT: Several new fecal occult blood tests have advantages over older ones when used for colorectal cancer screening. Fecal immunochemical tests can detect antibodies to human globin in the stool and can be used without the dietary restrictions needed with traditional guaiac tests. Although colonoscopy is often considered the gold standard, we hope that these new tests will allow more people to be screened and more cases of colorectal cancer to be detected early.
Cleveland Clinic Journal of Medicine 08/2011; 78(8):515-20. · 3.40 Impact Factor
[show abstract][hide abstract] ABSTRACT: Germline phosphatase and tensin homolog (PTEN) mutations cause Cowden syndrome (CS), associated with breast and thyroid cancers. Case reports found 35%-85% of CS patients had gastrointestinal (GI) hamartomas. The association of benign and malignant GI neoplasias with CS remains debatable. Our goal is to describe the GI phenotype in a prospective series of PTEN mutation carriers.
Patients who met relaxed International Cowden Consortium criteria (N = 2548) or with 5 or more GI polyps, 1 or more of which was hyperplastic or hamartomatous (N = 397), were prospectively recruited. Germline PTEN mutation/deletion analysis was performed. Of the 2945 patients, 127 (123 of 2548 and 4 of 397, respectively) patients having clear pathogenic PTEN mutations were eligible for this study. Esophagogastroduodenoscopy, colonoscopy, and pathology reports were reviewed. The Fisher 2-tailed exact test, unpaired t tests, and age- and sex-adjusted standardized incidence ratio were calculated.
Of 127 PTEN mutation carriers, 69 underwent 1 or more endoscopies with 64 (93%) having polyps. Of the 64, half had hyperplastic polyps. There were one to innumerable polyps in the colorectum, ileum, duodenum, stomach, and/or esophagus, with 24 subjects having both upper and lower GI polyps. Nine (13%) subjects had colorectal cancer, all younger than the age of 50. The adjusted standardized incidence ratio was 224.1 (95% confidence interval, 109.3-411.3; P < .0001).
PTEN-associated CS should be considered a mixed polyp syndrome, with hyperplastic polyps most prevalent, with a risk of early onset colorectal cancer. Routine colonoscopy should be considered in PTEN-associated CS, especially in the context of hyperplastic and/or adenomatous polyps.
[show abstract][hide abstract] ABSTRACT: Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are autosomal dominant disorders with characteristic clinical phenotypes. Recently, reports of the combined syndrome of JPS and HHT have been described in individuals with mutations in the SMAD4 gene, whose product-SMAD4-is a critical intracellular effector in the signalling pathway of transforming growth factor beta (TGFbeta). This report describes a 24-year-old man who presented to the Respiratory Institute after colectomy for JPS with a SMAD4 mutation and who was subsequently diagnosed to have HHT with asymptomatic cerebral and pulmonary arteriovenous malformations (AVMs). Patients with JPS due to a SMAD4 mutation should be screened for the vascular lesions associated with HHT, especially occult AVMs in visceral organs, which may potentially present catastrophically with serious medical consequences.
[show abstract][hide abstract] ABSTRACT: OBJECTIVES: Celecoxib is approved as an adjunctive chemopreventive agent in adults with familial adenomatous polyposis (FAP). Its safety and efficacy for colorectal polyps in children is unknown. We evaluated the short-term (3 months) safety and preliminary efficacy of celecoxib in children with FAP.
The American Journal of Gastroenterology 03/2010; 105(6):1437-1443. · 7.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: Obesity is a risk factor for colorectal cancer and adenomatous polyps. The increased prevalence of neoplasia coupled with the observation that obesity may be associated with a suboptimal bowel preparation may diminish the adequate detection of adenomas for obese who undergo colonoscopy. The colonic complications of obesity are reviewed in this article.
Gastroenterology clinics of North America 03/2010; 39(1):47-55. · 2.56 Impact Factor
[show abstract][hide abstract] ABSTRACT: Celecoxib is approved as an adjunctive chemopreventive agent in adults with familial adenomatous polyposis (FAP). Its safety and efficacy for colorectal polyps in children is unknown. We evaluated the short-term (3 months) safety and preliminary efficacy of celecoxib in children with FAP.
This was a phase I, dose-escalation trial, with three successive cohorts of six children. Children of ages 10-14 years with APC gene mutations and/or adenomas with a family history of FAP were studied at M.D. Anderson Cancer Center and the Cleveland Clinic. Colonoscopy was performed at baseline and month 3. Random assignment was in a 2:1 generic:placebo ratio, escalating from cohort 1 (4 mg/kg/day) to cohort 2 (8 mg/kg/day) to cohort 3 (16 mg/kg/day). Adherence and adverse event (AE) monitoring was conducted at 2-week intervals during drug administration. Safety profile, difference in number, and percent change in colorectal polyps were compared among the four treatments (placebo and the three dose-escalation groups).
Eighteen subjects completed drug dosing and both colonoscopies. Median age was 12.3 years (56% female). No clinically meaningful differences in AEs were seen between placebo subjects and subjects at any of the three celecoxib doses. Median polyp count at baseline was 31. There was a 39.1% increase in the number of polyps in placebo subjects at month 3, whereas in the highest dose celecoxib group, 16 mg/kg/day, a 44.2% reduction was seen (P=0.01).
Celecoxib at a dose of 16 mg/kg/day, corresponding to the adult dose of 400 mg BID, is safe, well tolerated, and significantly reduced the number of colorectal polyps in children with FAP.
The American Journal of Gastroenterology 03/2010; 105(6):1437-43. · 7.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: Colorectal cancer (CRC) remains the third most commonly diagnosed cancer and second leading cause of cancer death in the United States. Declines in CRC incidence and mortality over the past 20 years were attributed to CRC screening. Yet, only slightly more than half of the eligible at-risk population acknowledge being screened. To effectively meet the demands of screening in an enlarging, ethnically diverse, and aging population, a variety of modalities are needed. This article provides a focused assessment of effectiveness, limitations, and alternative available screening methods. New modalities endorsed in the updated guidelines (eg, fecal immunochemical tests, fecal DNA, and CT colonography) are reviewed. In addition, advances and updates in existing tests (eg, guaiac-based fecal occult blood tests and colonoscopy) are evaluated.
Current Gastroenterology Reports 10/2009; 11(5):406-12.
[show abstract][hide abstract] ABSTRACT: Over the past 50 years, prophylactic colorectal surgery for patients with familial adenomatous polyposis has evolved as new technologies and ideas have emerged. The aim of this study was to review all the index surgeries for familial adenomatous polyposis performed at our institution to assess the changes in surgical techniques.
All index abdominal surgeries for polyposis from 1950 to 2007 were identified through the Polyposis Registry Database. We assigned the patients to prepouch (before 1983), pouch (after 1983), and laparoscopic (after 1991) eras, and analyzed the changes in prophylactic surgery.
Four hundred twenty-four patients were included; 51% were male. Median age at surgery was 26 (range, 9-66) years. In the prepouch era, 97% (66 of 68) of all surgeries and 100% of restorative surgeries were ileorectal anastomosis. After 1983, 70% (54 of 77) of patients with a severe phenotype had an ileal pouch-anal anastomosis. After 1991, 110 operations (43%) were laparoscopic (88 ileorectal and 22 ileal pouch-anal anastomosis).
Colon surgery for familial adenomatous polyposis has evolved as advances in surgical technique have created more options to reduce the risk of cancer. Current strategy uses polyposis severity and distribution to decide on the surgical option, and laparoscopy to minimize morbidity.
Diseases of the Colon & Rectum 09/2009; 52(8):1481-6. · 3.34 Impact Factor
[show abstract][hide abstract] ABSTRACT: The effectiveness of colonoscopy in preventing colon cancer depends on adenoma detection and removal. Adequacy of bowel preparation, careful mucosal visualization, and adequate withdrawal time are known to affect adenoma detection rate (ADR). Physician fatigue, which usually increases as the day progresses, might impair ADR. The aim of this study is to assess the effect of timing of colonoscopy, morning vs. afternoon, on ADR.
Medical records of 9,063 colonoscopies performed in 2006 were reviewed for patient demographics, indications, timing, and findings of colonoscopy. Asymptomatic outpatients who had adequate bowel preparation and complete colonoscopy were included. Morning colonoscopies were defined as those that started before 12 noon and afternoon colonoscopies as those that started after 12 noon. ADR is defined as the detection of at least one adenoma per colonoscopy.
A total of 3,619 colonoscopies were included, of which 1,748 (48.3%) were done in the morning and 1,871 (51.7%) were done in the afternoon. ADR was 29.3% in the morning group compared with 25.3% in the afternoon group (P=0.008). There was a trend toward declining ADR for each subsequent hour of the day (P=0.01). In multivariable analysis, colonoscopy in the morning was significantly associated with increased ADR (odds ratio (OR) 1.2 (1.06, 1.4) P=0.006).
Time of performance of colonoscopy seems to be an independent predictor for adenoma detection. ADR was significantly higher in morning colonoscopies than in afternoon colonoscopies. The reasons and implications of this finding should be studied further.
The American Journal of Gastroenterology 07/2009; 104(7):1659-64; quiz 1665. · 7.55 Impact Factor