Assessing Guidelines on the Need for Colonoscopy After Initial Flexible Sigmoidoscopy in Young Patients With Outlet-Type Rectal Bleeding.

BACKGROUND: Although young-age-of-onset colorectal cancer is increasing in incidence, lack of screening leads to symptomatic presentation, often with rectal bleeding. Because most cancers in patients younger than 50 years are left-sided, flexible sigmoidoscopy is a reasonable way of investigating bleeding in these patients. OBJECTIVE: To predict which patients undergoing flexible sigmoidoscopy for outlet-type rectal bleeding need a full colonoscopy. DESIGN: Findings at colonoscopy were compared with published indications for colonoscopy after flexible sigmoidoscopy, which were as follows: 1) any number of advanced adenomas defined as a tubular adenoma of >9 mm diameter, a tubulovillous or villous adenoma of any size, or any adenoma with high-grade dysplasia; 2) 3 or more tubular adenomas of any size or histology; 3) any sessile serrated lesion; and 4) 20 or more hyperplastic polyps. SETTING: Charity Hospital with volunteer specialists. PATIENTS: Patients were included if they were younger than 57 years, had outlet-type rectal bleeding, and underwent flexible sigmoidoscopy at least to the descending colon followed by colonoscopy with biopsy of all resected lesions. INTERVENTIONS: Flexible sigmoidoscopy and colonoscopy with excision of all removable lesions. MAIN OUTCOME MEASURES: Findings at colonoscopy. RESULTS: There were 66 patients who had a colonoscopy between 5 and 811 days after sigmoidoscopy and also had complete data. There were 43 men and 23 women with a mean age of 39.5 years. Analysis of flexible sigmoidoscopy criteria for finding proximal high-risk lesions on colonoscopy showed a sensitivity of 76.9%, a specificity of 67.9%, a positive predictive value of 37%, a negative predictive value of 92.3%, and an accuracy of 69.7%. LIMITATIONS: A large number of exclusions for inadequate colonoscopy or inadequate data resulted in a reduced patient number in the study. CONCLUSIONS: Our criteria for follow-up colonoscopy based on the findings at initial flexible sigmoidoscopy in young patients with outlet-type rectal bleeding are reliable enough to be used in routine clinical practice, provided this is audited. See Video Abstract. GUA DE EVALUACIN PARA LA NECESIDAD DE COLONOSCOPIA DESPUS DE UNA SIGMOIDOSCOPIA FLEXIBLE INICIAL EN PACIENTES JVENES CON RECTORRAGIA: ANTECEDENTES:Si bien la edad de aparición temprana del cáncer colorrectal está aumentando en incidencia, la falta de pruebas de detección conduce a una presentación sintomática, a menudo con sangrado rectal. Debido a que la mayoría de los cánceres en pacientes menores de 50 años son del lado izquierdo, la sigmoidoscopia flexible es una forma razonable de investigar el sangrado en estos pacientes.OBJETIVO:Predecir qué pacientes sometidos a sigmoidoscopia flexible por rectorragia necesitan una colonoscopia completa.DISEÑO:Los resultados de la colonoscopia se compararon con las indicaciones publicadas para la colonoscopia después de una sigmoidoscopia flexible. Estos fueron: 1. Cualquier número de adenomas avanzados, definidos como un adenoma tubular > 9 mm, un adenoma tubulovelloso o velloso de cualquier tamaño, o cualquier adenoma con displasia de alto grado. 2. Tres o más adenomas tubulares de cualquier tamaño o histología. 3. Cualquier lesión serrada sésil. 4. Veinte o más pólipos hiperplásicos.ENTORNO CLINICO:Hospital de Caridad con especialistas voluntarios.PACIENTES:Menores de 57 años, con rectorragia, sometidos a sigmoidoscopia flexible al menos hasta el colon descendente, seguida de colonoscopia con biopsia de todas las lesiones resecadas.INTERVENCIONES:sigmoidoscopia flexible y colonoscopia con escisión de todas las lesiones removibles.PRINCIPALES MEDIDAS DE VALORACIÓN:Hallazgos en la colonoscopia.RESULTADOS:66 casos a los que se les realizó una colonoscopia entre 5 y 811 días después de la sigmoidoscopia, que también tenían datos completos. 43 hombres y 23 mujeres con una edad media de 39,5 años. El análisis de los criterios de sigmoidoscopia flexible para encontrar lesiones proximales de alto riesgo en la colonoscopia mostró una sensibilidad del 76,9 %, una especificidad del 67,9 %, un valor predictivo positivo del 37 %, un valor predictivo negativo del 92,3 % y una precisión del 69,7 %.LIMITACIONES:Gran número de exclusiones por colonoscopia inadecuada o datos inadecuados que causan un número reducido de pacientes en el estudio.CONCLUSIÓN:Nuestros criterios para la colonoscopia de seguimiento basados en los hallazgos de la sigmoidoscopia flexible inicial en pacientes jóvenes con rectorragia son lo suficientemente confiables para ser utilizados en la práctica clínica habitual, siempre que se audite. (Traducción- Dr. Ingrid Melo ).

Role of Microbiome in the Outcomes Following Surgical Repair of Perianal Fistula: Prospective Cohort Study Design and Preliminary Results.

BACKGROUND: Anal fistulae are common, predominantly cryptoglandular, and almost invariably require surgical treatment. Recurrences are common for procedures other than fistulotomy regardless of technique and adequacy of repair. Growing evidence supports the pivotal role of specific intestinal bacteria in anastomotic failures after bowel resection. Anal crypts harbor colonic microbiota suggesting that similar mechanisms to anastomotic healing might prevail after anal fistula repair and hence influence healing. This study aims at assessing the potential role of the intestinal microbiome in the clinical outcomes after surgical repair of cryptoglandular anal fistula. METHODS: This is a pilot prospective cohort study enrolling patients with anal fistula undergoing endoanal advancement flap. For microbiome analysis, stool samples are taken via rectal swab before the procedure; additionally, a portion of the fistula is collected intraoperatively after fistulectomy. Samples from groups with treatment failure are compared to samples from patients who healed after surgical repair. Alpha and beta diversities and differential abundance of microbial taxa are determined and compared between groups with DADA2 analytical pipeline. RESULTS: Five patients have been enrolled to date (one female, four male). At median follow-up of 6 months (2-11), one patient experienced disease recurrence at 3 months. DNA from the 5 rectal swab and tissue samples was extracted, showing increased relative abundance of Enterococcus faecalis in samples from the patient who developed a recurrent fistula but not in those without recurrence. CONCLUSION: These very preliminary data suggest that intestinal microbiome may represent a crucial determinant of the surgical outcomes after anal fistula surgery.

A Different Way to Think About Syndromes of Hereditary Colorectal Cancer.

BACKGROUND: Hereditary colorectal cancer is an increasingly complex field in which the commoner syndromes are being augmented by rarer genetic presentations contributing to familial polyposis and colorectal cancer. Coming to grips with the complexity is difficult because of the phenotypic and genotypic overlap between syndromes. OBJECTIVE: This study aimed to describe a new way of thinking about syndromes of hereditary colorectal cancer based on their embryonic tissue of origin. DATA SOURCES: Articles were searched through PubMed and MEDLINE. STUDY SELECTION: The terms "hereditary colorectal cancer," "syndromes of hereditary colorectal cancer," and "hereditary polyposis" were used to direct the search. RESULTS: Primarily endoderm-derived syndromes were different from mesoderm-derived syndromes in their genetics, molecular biology, histology, and clinical course. LIMITATIONS: There is considerable phenotypic and genotypic overlap between syndromes, even when considering embryonic tissue of origin. CONCLUSIONS: Thinking about hereditary syndromes of colorectal cancer from the perspective of embryonic tissue of origin provides a fresh look at phenotype and genotype that opens new areas of exploration. UNA FORMA DIFERENTE DE PENSAR SOBRE LOS SNDROMES DEL CNCER COLORRECTAL HEREDITARIO: ANTECEDENTES:El cáncer colorrectal hereditario es un campo cada vez más complejo donde los síndromes más comunes se ven aumentados por presentaciones genéticas más raras que contribuyen a la poliposis familiar y al cáncer colorrectal. Hacer frente a esta complejidad resulta difícil debido a la superposición fenotípica y genotípica entre los síndromes.OBJETIVO:En este artículo, describimos una nueva forma de pensar sobre los síndromes de cáncer colorrectal hereditario en función del origen de su tejido embrionario.FUENTES DE DATOS:Se realizaron búsquedas de artículos en Pubmed y Medline.SELECCIÓN DE ESTUDIOS:Se utilizaron los términos "cáncer colorrectal hereditario", "síndromes de cáncer colorrectal hereditario", "poliposis hereditaria" para dirigir la búsqueda.RESULTADOS:Principalmente los síndromes derivados del endodermo fueron diferentes a los síndromes derivados del mesodermo en su genética, biología molecular, histología y curso clínico.LIMITACIONES:Existe una superposición fenotípica y genotípica considerable entre los síndromes, incluso cuando se considera el tejido de origen embrionario.CONCLUSIÓN:Pensar en los síndromes hereditarios del cáncer colorrectal desde la perspectiva del tejido embrionario de origen proporciona una nueva mirada al fenotipo y al genotipo que abre nuevas áreas de exploración. (Traducción-Dr Osvaldo Gauto ).

The anatomy and physiology of the ileal pouch and its relevance to pouch dysfunction.

For the last 40 years, the ileal pouch-anal anastomosis has been used in patients with ulcerative colitis, familial adenomatous polyposis, and occasionally severe constipation to reconstruct the gastrointestinal tract after proctocolectomy. Although the procedure has generally been successful in helping patients avoid an ileostomy, it has come with its own set of problems. These include complications of the surgery such as fistulas and bowel obstruction, persistent inflammation of the pouch known as pouchitis, and functional problems related to the lack of expulsive peristalsis in the pouch. It is this last group of problems that is exacerbated by a poor diet, ill-advised anti-diarrheal medications, anal stenosis and pouch twists. As a consequence, patients with pouch problems are frequently referred for radiologic evaluation, with pouchography, defecation studies, and small bowel imaging commonly requested. In this review, the basic anatomy and physiology of the ileal pouch are discussed to provide a logical baseline against which to measure the anatomy of pouches and its relationship to the symptoms of pouch dysfunction.

Dynamic ileal pouch emptying studies.

Although much radiologic literature has focused on the short-term post-operative complications associated with ileal pouches, as the number of patients with long-term pouches has grown, there is increasing realization of the functional deficits that may occur long after pouch creation. Dynamic pouch imaging using fluoroscopy and MRI can provide assessment of the underlying causes of symptomatic pouch dysfunction and can provide critical insight to the management of this complex patient population. In this paper, we provide an overview of the unique problems encountered in patients with long-term ileal pouches, and provide an overview of the techniques, interpretation, and reporting for fluoroscopic and MR pouch defecography.

Estimating the size of colorectal polyps endoscopically: random guess or systematic error?

BACKGROUND: Size of colorectal polyps reflects potential for malignancy and helps define advanced lesions. Studies measuring ability of endoscopists to estimate polyp size show significant variation. The aim of this study was to determine if there is a linear relationship between endoscopic and pathologic polyp size. METHODS: Data for adenomas removed completely by snare, in one piece, were retrieved from a prospectively recorded polyp database. Endoscopic estimate of maximum diameter was compared to that on the pathology report by linear regression analysis. RESULTS: There were 126 polyps in 126 patients, 85 men and 41 women. Mean age was 63.2 ± 12.9 years. Mean endoscopic polyp size was 12.2 ± 9.3 mm and mean pathology size was 9.3 ± 6.9 mm. Endoscopically, 16 polyps were ≤ 5 mm, 62 were from 6 to 10 mm, 21 were from 11 to 15 mm, and 27 were from 16 to 55 mm. Twenty-nine polyps were right sided, 86 were left and 11 were rectal. Regression of endoscopic size against pathology size yielded a significant r2 of 0.761. Using the regression formula of endoscopic size = 0.7 + 1.175× pathology size an endoscopic estimate of 10 mm (= advanced adenoma) means a pathologic size of 8 mm. For a pathologic size of 10 mm, an endoscopic estimate of 12 mm is needed. A large polyp is ≥20 mm; for this endoscopist a 20 mm polyp is really 16.4 mm. CONCLUSIONS: The relationship between endoscopic and directly measured size is linear over all polyp diameters, and likely represents a systematic error.

When pouches cannot empty: a cohort study of the symptoms this causes, the reasons it's happening, and the treatments needed.

BACKGROUND: Patients with an ileal pouch have a new system of defecation. The expulsive peristalsis of the rectum is replaced by the inertia of the pouch. Defecation becomes dependent on gravity and patients are prone to inefficient pouch-emptying. Several factors can impact pouch emptying and here we review a series of patients to illustrate these factors and their variable presentations. METHODS: This is a retrospective, descriptive study of a series of patients who had undergone total proctocolectomy with ileal pouch anal anastomosis and presented with pouch dysfunction. Patients underwent investigations including, pouchoscopy, pouchography and anorectal physiology testing. RESULTS: There were 34 patients, 18 men, mean age 48.4 years. Thirty-one had a J-pouch and 3 an S-pouch. Twenty-eight had a stapled and 6 a hand-sewn anastomosis. Presenting complaints included difficulty emptying the pouch (n = 17), high stool frequency (n = 8), clinical bowel obstruction (n = 7), and nocturnal incontinence (n = 3). Diagnoses were anal stenosis (11), afferent-limb syndrome (n = 7), pouch twist (n = 4), paradoxical puborectalis contraction (n = 7), efferent-limb spasm/stenosis (n = 2), mega-pouch (n = 3), pouch prolapse (n = 1), and pouch-rectal anastomosis (n = 1). Treatments included anal dilation (n = 11), disimpaction (n = 2), biofeedback (n = 2), pouch excision (n = 2), laparotomy with lysis of adhesions (n = 6), Botox injection into puborectalis (n = 6), catheter drainage (3), and miralax (n = 11). All patients with a stenosis had some improvement after dilation, and surgery restored pouch function. CONCLUSIONS: Accurate diagnosis and effective treatment of pouch dysfunction is based on an appreciation of pouch physiology, correction of anatomic abnormalities that impair emptying, and management of stool consistency.

Management of pouch neoplasia: consensus guidelines from the International Ileal Pouch Consortium.

Surveillance pouchoscopy is recommended for patients with restorative proctocolectomy with ileal pouch-anal anastomosis in ulcerative colitis or familial adenomatous polyposis, with the surveillance interval depending on the risk of neoplasia. Neoplasia in patients with ileal pouches mainly have a glandular source and less often are of squamous cell origin. Various grades of neoplasia can occur in the prepouch ileum, pouch body, rectal cuff, anal transition zone, anus, or perianal skin. The main treatment modalities are endoscopic polypectomy, endoscopic ablation, endoscopic mucosal resection, endoscopic submucosal dissection, surgical local excision, surgical circumferential resection and re-anastomosis, and pouch excision. The choice of the treatment modality is determined by the grade, location, size, and features of neoplastic lesions, along with patients' risk of neoplasia and comorbidities, and local endoscopic and surgical expertise.

Feasibility and Safety of Ambulatory Surgery as the Next Management Paradigm in Colorectal Resection Surgery.

BACKGROUND: Current clinical dogma favors universal inpatient admission after colorectal resection particularly in the presence of an anastomosis. OBJECTIVE: We evaluate the feasibility and safety of ambulatory surgery in carefully selected patients undergoing colorectal resection/anastomosis. METHODS: Between October 2020 and October 2021, all patients undergoing colorectal resection/anastomosis meeting specific criteria {no major comorbidity [American Society of Anesthesiologist (ASA) <4], not on therapeutic anticoagulation, compliant patient/family} were counseled preoperatively for ambulatory surgery (discharge <24 h postsurgery). Complicated surgery (ileoanal pouch, enterocutaneous fistula repair, reoperative pelvic surgery, multiple resections) and/or ostomy creation (loop/end ileostomy, Hartmann's, abdominoperineal resection) were exclusions. Discharge was at 6 to 8 hours postoperatively if all predetermined factors (no ostomy teaching needed, ambulating comfortably, tolerating diet, stable vitals, and blood-work) were met and patients were willing, or was postponed to the next day at patient request. All discharged patients received phone checks the next day with the option also given for voluntary readmission if inpatient care was preferred by patient. Patients discharged <24 hours postop (AmbC) were compared to those staying on as inpatients admitted (InpC) and also to a comparable historical (October 2019-October 2020) group when ambulatory surgery was not offered (HistC). RESULTS: Of 184 abdominal colorectal surgery patients, 97 had complicated colorectal resection and/or ostomy. Of the remaining 87, 29 (33.3%) were discharged <24 hours postoperatively [7 (24%) patients at 8 h]. Of these 29 AmbC patients, 4 were readmitted <30 days (ileus: 1, rectal bleeding: 2, nausea/vomiting: 1), 1 readmission was on first postdischarge day, none were voluntary post phone-check. AmbC and InpC (n=58) had similar age, sex, race, body mass index, and comorbidity. InpC had greater estimated blood loss (109 vs 34 mL, P <0.001) while length of stay was expectedly significantly longer (109 vs 17 hours, P <0.001). There was no mortality in either group. AmbC and InpC had similar readmission, reoperation, anastomotic leak, ileus, and surgical site infection. Mean length of stay for HistC was 83 hours. AmbC and HistC had similar age, sex, race, body mass index, and ASA class. Complications including readmission, reoperation, anastomotic leak, ileus, and surgical site infection were also similar for AmbC and HistC. CONCLUSIONS: With careful patient selection, preoperative education, perioperative management, and postoperative follow-up, ambulatory surgery is feasible in up to a third of patients undergoing colorectal resection/anastomosis and can be performed with comparable safety to the time-honored practice of routine inpatient hospitalization. Refinements in inclusion/exclusion criteria and postoperative outpatient follow-up will allow a paradigm shift in how such patients are managed, which has huge implications for patient experience, care-giver workload and health care finances.

IPAA Is More "Desmoidogenic" Than Ileorectal Anastomosis in Familial Adenomatous Polyposis.

BACKGROUND: Desmoid disease is a leading cause of morbidity and mortality in patients with familial adenomatous polyposis. Abdominal desmoid disease usually follows total proctocolectomy with IPAA or total abdominal colectomy with ileorectal anastomosis. Sex, extraintestinal manifestations, and a 3'-mutation location have been identified as risk factors, but surgical risk factors are poorly understood. We hypothesized that pouch construction creates a higher risk of desmoid formation due to the increased stretch of the small-bowel mesentery. OBJECTIVE: This study aimed to investigate the surgical risk factors for desmoid formation. DESIGN: This was a retrospective, single-center, registry-based cohort study. SETTINGS: This study was conducted at a single academic institution with a prospectively maintained hereditary colorectal cancer database between 1995 and 2015. PATIENTS: All patients with familial polyposis (total 345) who underwent either proctocolectomy with a pouch or colectomy with an ileorectal anastomosis during the study period and met inclusion criteria were selected. MAIN OUTCOME MEASURES: The development of symptomatic abdominal desmoid disease was the primary end point. Associations between desmoid formation and resection type, surgical approach, and other patient factors were analyzed. RESULTS: A total of 172 (49%) patients underwent proctocolectomy/ileoanal pouch, whereas 173 (51%) underwent total colectomy/ileorectal anastomosis. Overall, 100 (28.9%) developed symptomatic desmoids after surgery. On univariable analysis, open surgery and pouch surgery were associated with desmoid development, along with extracolonic manifestations, family history of desmoids, mutation location, and a high desmoid risk score. On multivarible analysis, proctocolectomy with pouch was most strongly associated with desmoid disease ( p < 0.01). LIMITATIONS: This study was limited by its retrospective nature, the lack of uniform desmoid screening, and the variable duration of follow-up. Unanalyzed confounding factors include polyposis severity and number of surgeries. CONCLUSIONS: Patients with polyposis who underwent total proctocolectomy with pouch by any approach had significantly greater risk of developing desmoid disease than total colectomy with ileorectal anastomosis, even when accounting for other risk factors. See Video Abstract at http://links.lww.com/DCR/B822 .RESULTADOS DE LOS PACIENTES SOMETIDOS A RESECCIÓN INTESTINAL ELECTIVA ANTES Y DESPUÉS DE LA IMPLEMENTACIÓN DE UN PROGRAMA DE DETECCIÓN Y TRATAMIENTO DE ANEMIA. ANTECEDENTES: Se sabe que los pacientes anémicos que se someten a una cirugía electiva de cáncer colorrectal tienen tasas significativamente más altas de complicaciones posoperatorias y peores resultados. OBJETIVO: Mejorar las tasas de detección y tratamiento de la anemia en pacientes sometidos a resecciones electivas de colon y recto a través de una iniciativa de mejora de calidad. DISEO: Comparamos una cohorte histórica de pacientes antes de la implementación de nuestro programa de detección de anemia y mejora de la calidad del tratamiento con una cohorte prospectiva después de la implementación. ENTORNO CLINICO: Hospital de atención terciaria. PACIENTES: Todos los pacientes adultos con un nuevo diagnóstico de cáncer de colon o recto sin evidencia de enfermedad metastásica entre 2017 y 2019. INTERVENCIONES: Detección de anemia y programa de mejora de la calidad del tratamiento. PRINCIPALES MEDIDAS DE RESULTADO: El resultado primario fue el costo hospitalario por ingreso. RESULTADOS: Un total de 84 pacientes se sometieron a resección electiva de colon o recto antes de la implementación de nuestro proyecto de mejora de calidad de la anemia y 88 pacientes se sometieron a cirugía después. En la cohorte previa a la implementación, 44/84 (55,9 %) presentaban anemia en comparación con 47/99 (54,7 %) en la cohorte posterior a la implementación. Las tasas de detección (25 % a 86,4 %) y tratamiento (27,8 % a 63,8 %) aumentaron significativamente en la cohorte posterior a la implementación. El costo total medio por admisión se redujo significativamente en la cohorte posterior a la implementación (costo medio $16 827 vs. $25 796, p = 0,004); esta reducción significativa se observó incluso después de ajustar los factores de confusión relevantes (proporción de medias: 0,74, IC del 95 %: 0,65 a 0,85). El vínculo mecánico entre el tratamiento de la anemia y la reducción de costos sigue siendo desconocido. No hubo diferencias significativas en las tasas de transfusión de sangre, complicaciones o mortalidad entre los grupos. LIMITACIONES: El diseño de antes y después está sujeto a sesgos temporales y de selección. CONCLUSIONES: Demostramos la implementación exitosa de un programa de detección y tratamiento de anemia. Este programa se asoció con un costo por admisión significativamente reducido. Este trabajo demuestra el valor y los beneficios posibles de la implementación de un programa de detección y tratamiento de la anemia. Consulte Video Resumen en http://links.lww.com/DCR/C15 . (Traducción- Dr. Francisco M. Abarca-Rendon ).

Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer.

It was not known whether the polygenic risk scores (PRSs) that predict colorectal cancer could predict colorectal cancer for people with inherited pathogenic variants in DNA mismatch repair genes-people with Lynch syndrome. We tested a PRS comprising 107 established single-nucleotide polymorphisms associated with colorectal cancer in European populations for 826 European-descent carriers of pathogenic variants in DNA mismatch repair genes (293 MLH1, 314 MSH2, 126 MSH6, 71 PMS2, and 22 EPCAM) from the Colon Cancer Family Registry, of whom 504 had colorectal cancer. There was no evidence of an association between the PRS and colorectal cancer risk, irrespective of which DNA mismatch repair gene was mutated, or sex (all 2-sided P > .05). The hazard ratio per standard deviation of the PRS for colorectal cancer was 0.97 (95% confidence interval = 0.88 to 1.06; 2-sided P = .51). Whereas PRSs are predictive of colorectal cancer in the general population, they do not predict Lynch syndrome colorectal cancer.

Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy.

BACKGROUND: Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial intelligence-based chatbot deployed to patients scheduled for colonoscopy to identify HCRC risk factors, educate participants about HCRC and obtain consent to genetic testing as an extension of genetic counselling of appropriate subjects. Genetic counsellor (GC) and genetic counselling assistant (GCA) time spent per subject was also measured. METHODS: Patients scheduled for colonoscopy at Cleveland Clinic were invited via electronic medical record patient portal or letter prior to colonoscopy with a link to a chatbot administering the Colon Cancer Risk Assessment Tool (CCRAT) to screen for HCRC syndromes. Those with ≥1 positive response to a CCRAT question received chatbot-deployed genetic education and the option to receive genetic testing. An order for a 55-gene pan-cancer panel was placed for those consenting, and the subject had blood drawn on the day of colonoscopy. Results were disclosed by a GC or GCA by telephone. Subject demographics, progression through the chat, responses to CCRAT, personal and family history, genetic test results and communication with the subject were recorded. Descriptive statistics and two-tailed unpaired t-test and Fisher's exact test were used. RESULTS: 506/4254 (11.9%) initiated and 487 (96.2%) completed the chat with the chatbot. 215 (44.1%) answered 'yes' to ≥1 CCRAT question and all completed pretest education. 129/181 (71.3%) subjects who consented completed testing, and 12 (9.3%) were found to have a germline pathogenic variant. Per subject, the GC spent a mean of 14.3 (SD 7.3) and the GCA a mean of 19.2 (SD 9.8) minutes. CONCLUSION: The use of a chatbot in this setting was a novel and feasible method, with the potential of increasing genetic screening and testing in individuals at risk of HCRC syndromes.

Increasing Incidence of Left-Sided Colorectal Cancer in the Young: Age Is Not the Only Factor.

BACKGROUND: Recent single-institution studies have shown that colorectal cancer (CRC) in patients < 50 is predominantly left-sided. The aims of this study were to 1 compare the incidence of left-sided CRC in patients under and over 50, 2 investigate this trend over time, and 3 examine whether racial differences exist in the anatomical distribution of CRC. METHODS: We used the Nationwide Inpatient Sample to identify all patients with colon or rectal cancer who underwent a resection from 2000 to 2014. Logistic regression models were used to determine the odds of a patient having a left-sided CRC based on age and race. RESULTS: A total of 1,547,589 patients underwent resection, with a mean age of 68.6. Overall, 65.1% of patients < 50 had a left-sided CRC compared with 47.2% of patients ≥ 50 (OR = 2.1; 95% CI 2.0, 2.1). The difference was greater as patients became older with 39.9% of patients > 70 having a left-sided CRC (< 50 vs ≥ 70; OR = 2.8; 95% CI 2.7, 2.9). The incidence of CRC in those under 50 increased over the study period due to an increase in left-sided tumors. The distribution of CRC varied with race, with African-Americans having a lower odds for left-sided CRC (OR = 0.89; 95% CI 0.87, 0.91) and Asians/Pacific Islanders having a higher odds (OR = 1.8; 95% CI 1.7, 1.9). CONCLUSION: In the < 50 age group, the incidence of CRC is increasing, with majority of these tumors left-sided. Tumor location varies with both age and race.

Redo IPAA After a Failed Pouch In Patients With Crohn's Disease: Is It Worth Trying?

BACKGROUND: In selected patients with ulcerative colitis and pelvic pouch failure, redo pouch is an option. However, it is unknown whether selected patients with Crohn's disease should be offered a chance to avoid permanent diversion after failure of IPAA. OBJECTIVE: The objective was to compare the outcomes of redo pouch for ulcerative colitis and Crohn's disease. DESIGN: This was a retrospective analysis of a prospectively maintained pouch database (1983-2017). SETTINGS: The setting was the Cleveland Clinic. PATIENTS: This study included patients who underwent redo pouch with a primary surgical specimen diagnosis of ulcerative or Crohn's colitis at the time of initial pouch. MAIN OUTCOME MEASURES: Pouch failure was defined as either pouch excision or indefinite pouch diversion. Patient characteristics, perioperative and functional outcomes, pouch survival, and quality of life were compared according to the diagnosis. RESULTS: Of 422 patients, 392 had ulcerative colitis and 30 had Crohn's disease. Age and sex were comparable. The most common indications for redo pouch included anastomotic separation and fistulas (220 (56.1%) in ulcerative colitis and 21 (70%) in Crohn's disease). The majority of redo pouches required mucosectomy with handsewn anastomosis (310 (79%) in ulcerative colitis and 30 (100%) in Crohn's disease; p = 0.23). A new pouch was constructed in 160 patients (41%) with ulcerative colitis and repair of old pouch in 231 patients (59%) compared with 25 (83%) in Crohn's disease, who had creation of new pouch; only in 5 (17%) was the old pouch re-anastomosed. Stool frequency, seepage, and fecal urgency were comparable between groups. Cumulative 5-year pouch survival was longer in ulcerative colitis versus Crohn's disease (88% vs 55%; p = 0.008). Major causes of redo failure in Crohn's disease were pouch fistulas and/or strictures occurring after ileostomy closure. These were more common in Crohn's disease than in ulcerative colitis (p < 0.001). LIMITATIONS: This was a retrospective design. CONCLUSIONS: Redo pouch can be offered to selected patients with colonic Crohn's disease diagnosed at the time of their primary pouch. See Video Abstract at http://links.lww.com/DCR/B206. REHACER LA ANASTOMOSIS ILEOANAL CON RESERVORIO DESPUéS DE UN RESERVORIO ILEAL FALLIDO EN PACIENTES CON ENFERMEDAD DE CROHN: ¿VALE LA PENA INTENTARLO?: En pacientes seleccionados con colitis ulcerativa y falla del reservorio pélvico, rehacer el reservorio es una opción. Sin embargo, se desconoce si en los pacientes seleccionados con enfermedad de Crohn se debería ofrecer la oportunidad de evitar la derivación permanente después de la falla de la anastomosis ileoanal con reservorio ileal.El objetivo fue comparar los resultados de reservorios re-hechos en colitis ulcerosa y la enfermedad de Crohn.El escenario fue la Cleveland Clinic.Análisis retrospectivo de una base de datos de reservorios ileales mantenida prospectivamente (1983-2017).Este estudio incluyó a pacientes que se sometieron a cirugía para rehacer el reservorio ileal con un diagnóstico en el espécimen quirúrgico primario de colitis ulcerosa o de Crohn en el momento del reservorio inicial.La falla del reservorio se definió como la escisión del reservorio o la derivación indefinida del reservorio. Las características del paciente, los resultados perioperatorios y funcionales, la supervivencia del reservorio y la calidad de vida se compararon de acuerdo con el diagnóstico.De 422 pacientes, 392 tenían colitis ulcerativa y 30 tenían enfermedad de Crohn. La edad y el género fueron comparables. Las indicaciones más comunes para rehacer el reservorio incluyeron dehiscencia anastomótica y fístulas [220 (56,1%) en colitis ulcerosa y 21 (70%) en la enfermedad de Crohn]. La mayoría de los reservorios rehechos requirieron mucosectomía con anastomosis manual [310 (79%) en colitis ulcerosa y 30 (100%) en la enfermedad de Crohn, p = 0.23]. Se construyó un nuevo reservorio en 160 (41%) pacientes con colitis ulcerativa y se reparó el reservorio antiguo en 231 (59%) pacientes, en comparación con 25 (83%) en la enfermedad de Crohn, que requirieron creación de un nuevo reservorio, y solo 5 (17%) donde el reservorio antiguo se volvió a anastomosar. La frecuencia de las evacuaciones, el manchado fecal y la urgencia fecal fueron comparables entre grupos. La supervivencia acumulada del reservorio a 5 años fue mayor en la colitis ulcerativa frente a la enfermedad de Crohn (88% frente a 55%, p = 0.008). Las principales causas de falla del reservorio rehecho en la enfermedad de Crohn fueron las fístulas del reservorio y / o las estenosis que ocurrieron después del cierre de ileostomía. Estas fueron más comunes en la enfermedad de Crohn que en la colitis ulcerativa (p <0.001).Este fue un diseño retrospectivo.Rehacer el reservorio ileal se puede ofrecer a pacientes seleccionados con enfermedad de Crohn colónica diagnosticada en el momento de su reservorio primario. Consulte Video Resumen en http://links.lww.com/DCR/B206. (Traducción-Dr Jorge Silva Velazco).

A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors.

Prior small reports have postulated a link between gastrointestinal polyposis and childhood and young adulthood cancer (CYAC) treatment (therapy-associated polyposis; TAP), but this remains a poorly understood phenomenon. The aim of this study was to describe the phenotypic spectrum of TAP in a multi-institutional cohort. TAP cases were identified from eight high-risk cancer centers. Cases were defined as patients with ≥10 gastrointestinal polyps without known causative germline alteration or hereditary colorectal cancer predisposition syndrome who had a history of prior treatment with chemotherapy and/or radiotherapy for CYAC. A total of 34 TAP cases were included (original CYAC: 27 Hodgkin lymphoma, three neuroblastoma, one acute myeloid leukemia, one medulloblastoma, one nephroblastoma, and one non-Hodgkin lymphoma). Gastrointestinal polyposis was first detected at a median of 27 years (interquartile range, 20-33) after CYAC treatment. A total of 12 of 34 (35%) TAP cases had ≥50 colorectal polyps. A total of 32 of 34 (94%) had >1 histologic polyp type. A total of 25 of 34 (74%) had clinical features suggestive of ≥1 colorectal cancer predisposition syndrome [e.g., attenuated familial adenomatous polyposis (FAP), serrated polyposis syndrome, extracolonic manifestations of FAP, mismatch repair-deficient colorectal cancer, or hamartomatous polyposis] including 8 of 34 (24%) with features of multiple such syndromes. TAP is an apparently acquired phenomenon that should be considered in patients who develop significant polyposis without known causative germline alteration but who have had prior treatment for a CYAC. Patients with TAP have features that may mimic various hereditary colorectal cancer syndromes, suggesting multiple concurrent biologic mechanisms, and recognition of this diagnosis may have implications for cancer risk and screening.

Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.

Background: Familial adenomatous polyposis (FAP) is a condition typically caused by pathogenic germline mutations in the APC gene. In addition to colon polyps, individuals with FAP have a substantially increased risk of developing papillary thyroid cancer (PTC). Little is known about the events underlying this association, and the prevalence of somatic "second-hit" mutations in APC is controversial. Methods: Whole-genome sequencing was performed on paired thyroid tumor and normal DNA from 12 FAP patients who developed PTC. Somatic mutation profiles were compared with clinical characteristics and previously sequenced sporadic PTC cases. Germline variant profiling was performed to assess the prevalence of variants in genes previously shown to have a role in PTC predisposition. Results: All 12 patients harbored germline mutations in APC, consistent with FAP. Seven patients also had somatic mutations in APC, and seven patients harbored somatic mutations in KMT2D, which encodes a lysine methyl transferase. Mutation of these genes is extremely rare in sporadic PTCs. Notably, only two of the tumors harbored the somatic BRAF p.V600E mutation, which is the most common driver mutation found in sporadic PTCs. Six tumors displayed a cribriform-morular variant of PTC (PTC-CMV) histology, and all six had somatic mutations in APC. Additionally, nine FAP-PTC patients had rare germline variants in genes that were previously associated with thyroid carcinoma. Conclusions: Our data indicate that FAP-associated PTCs typically have distinct mutations compared with sporadic PTCs. Roughly half of the thyroid cancers that arise in FAP patients have somatic "second-hits" in APC, which is associated with PTC-CMV histology. Somatic BRAF p.V600E variants also occur in some FAP patients, a novel finding. We speculate that in carriers of heterozygous pathogenic mutations of tumor suppressor genes such as APC, a cooperating second-hit somatic variant may occur in a different gene such as KTM2D or BRAF, leading to differences in phenotypes. The role of germline variance in genes other than APC (9 of the 12 patients in this series) needs further research.