Pediatric Colorectal Cancer: A Heterogenous Entity.

INTRODUCTION: Colorectal cancer (CRC) is extremely rare in pediatric age. A poor outcome has been reported. AIMS: We aimed to characterize a group of pediatric CRC patients. MATERIALS AND METHODS: All patients with CRC below 18 years old registered in our Familial Cancer Risk Clinic (2002-2016) were included. Clinical and histologic features were evaluated. Germline mutations, microsatellite instability, and DNA mismatch repair proteins expression were analyzed. RESULTS: Five patients were included (3 males; mean age at diagnosis: 14.2 years (range, 9 to 17 y) and 4/5 had family history of cancer in second-degree relatives. With a maximum follow-up of 5.6 years, 2/5 patients died after 10 and 24 months, and 1 recurred after 15 months. All tumors were ≥pT3N2 and 3/5 presented signet ring cells/mucinous histology, corresponding to cases with stronger family history of cancer. Nevertheless, all CRCs analyzed (n=4) were microsatellite stable and/or expressed all mismatch repair proteins. Loss of heterozygosity for the 3 Bethesda dinucleotide markers was detected in 1/3 informative CRCs. A likely pathogenic germline MSH2 mutation was identified in only 1 patient. CONCLUSIONS: Pediatric CRC presented advanced disease and poor prognosis. These tumors had distinct histologic and molecular presentations, resembling features from different carcinogenic pathways, thus suggesting a heterogenous nature.

Evaluation of fatigue in inflammatory bowel disease - a useful tool in daily practice.

Background: Fatigue is a common symptom reported in inflammatory bowel disease (IBD) patients. It can be severe and modify the self-perception of disease. Objective: To evaluate the contribution of clinical and demographic factors to the level of fatigue in IBD patients. Methods: Patients consecutively observed in an outpatient IBD clinic during a 9-month period were studied. Demographic and clinical data were collected. Fatigue was assessed using the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F). A FACIT-F score <30 was considered as severe fatigue. Results: One hundred and five patients were evaluated. Of them, 57.1% had Crohn´s Disease (CD) and 42.9% had Ulcerative Colitis. Also 85.0% and 77.8% were in clinical remission, respectively. The mean FACIT-F score was 39.63 ± 9.67. Severe fatigue was observed in 17.1% of patients. Female gender and active CD were significantly associated with a severe level of fatigue (p = .05 and p = .04). There was no significant correlation between the level of fatigue (severe vs. non-severe) and type of IBD, hemoglobin, C-reactive protein, ferritin levels or previous surgeries. Patients under biological therapy had a significantly higher level of fatigue and a higher rate of previous hospitalizations (p = .02). Conclusions: Fatigue level is a simple and useful tool to evaluate the disease's impact in patients' life, and it should, therefore, be included in clinical practice. Biological therapy was associated to higher levels of fatigue. Future studies should evaluate the impact of therapy on the level of fatigue.

Prevalence, risk factors and global impact of musculoskeletal injuries among endoscopists: a nationwide European study.

Background and study aims Previous studies have suggested a high prevalence of musculoskeletal injuries (MI) in endoscopists. Little evidence has come from European countries. Our main aim was to evaluate the prevalence, type, and impact of MI among Portuguese endoscopists. We also sought to identify risk factors for the development, severity and number of endoscopy-related MI. Material and methods A 48-question electronic survey was developed by a multidisciplinary group. The electronic survey was sent to all members of Portuguese Society of Gastroenterology (n = 705) during May 2019. Study data were collected and managed using REDCap electronic data capture tools hosted at SPG - CEREGA. Results The survey was completed by 171 endoscopists (response rate of 24.3 %), 55.0 % female with a median age of 36 years (range 26-78). The prevalence of at least one MI related to endoscopy was 69.6 % (n = 119), the most frequent being neck pain (30.4 %) and thumb pain (29.2 %). The median time for MI development was 6 years (range 2 months-30 years). Severe pain was reported by 19.3 %. Change in endoscopic technique was undertaken by 61.3 % and reduction in endoscopic caseload was undertaken by 22.7 %. Missing work was reported by 10.1 %, with the median time off from work being 30 days (range 1-90). Female gender and ≥ 15 years in practice were independently associated with MI and severe pain. Years in practice, weekly-time performing endoscopy, and gender were significant predictors of the number of MI. Conclusions Prevalence of MI was significant among Portuguese endoscopists and had a relevant impact on regular and professional activities.

Real-Time Optical Diagnosis of Colorectal Polyps in the Routine Clinical Practice Using the NICE and WASP Classifications in a Nonacademic Setting.

BACKGROUND: Narrow-band imaging (NBI) allows "in vivo" classification of colorectal polyps. OBJECTIVES: We evaluated the optical diagnosis by nonexpert community-based endoscopists in routine clinical practice, the impact of training, and whether the endoscopists could achieve the threshold for the "do not resect" policy. METHODS: This was an observational study performed in two periods (P1 and P2). Endoscopists had no prior experience in NBI in P1 and applied the technique on a daily basis for 1 year before participation in P2. Lesions were classified by applying the NBI International Colorectal Endoscopic (NICE) and Workgroup serrAted polypS and Polyposis (WASP) classifications, simultaneously. RESULTS: A total of 290 polyps were analyzed. The overall accuracy of optical diagnosis was 0.75 (95% CI 0.68-0.81) in P1, with an increase to 0.82 (95% CI 0.73-0.89) in P2 (p = 0.260). The accuracy of the NICE/WASP classifications to differentiate adenomatous from nonadenomatous histology was 0.78 (95% CI 0.72-0.84) in P1 and 0.86 (95% CI 0.77-0.92) in P2 (p = 0.164); assignments made with a high confidence level achieved statistical significance (13% improvement, 95% CI 3-22%; p = 0.022). The negative predictive value for adenomatous histology of diminutive rectosigmoid polyps was 81% (95% CI 64-93%) and 80% (95% CI 59-93%) in P1 and P2, respectively. CONCLUSIONS: Nonexpert endoscopists achieved moderate accuracy for real-time optical diagnosis of colorectal lesions with the NICE/WASP classifications. The overall performance of the endoscopists improved after sustained use of optical diagnosis, but did not achieve the standards for the implementation of the "do not resect" strategy.

INTRODUÇÃO: O narrow-band imaging (NBI) permite a classificação "in-vivo" dos pólipos colo-rectais. OBJECTIVOS: Avaliámos o diagnóstico óptico na prática clínica diária em endoscopistas da comunidade, sem experiência prévia em NBI, o impacto do treino e se estes conseguiam atingir o limiar da estratégia de "não ressecar". MÉTODOS: Estudo observacional, realizado em dois períodos (P1 e P2). Os endoscopistas não apresentavam experiência prévia em NBI em P1 e aplicaram a técnica diariamente durante um ano antes da participação em P2. As lesões foram classificadas aplicando as classificações NBI International Colorectal Endoscopic (NICE) e Workgroup serrAted polypS and Polyposis (WASP), simultaneamente. RESULTADOS: Foram analisados 290 pólipos. A acuidade global do diagnóstico óptico foi de 0.75 (IC 95%, 0.68-0.81) em P1, aumentando para 0.82 (IC 95%, 0.73-0.89) em P2 (p = 0.260). A acuidade das classificações de NICE/WASP na diferenciação de histologia adenomatosa de não-adenomatosa foi de 0.78 (IC 95%, 0.72-0.84) em P1, e 0.86 (IC 95%, 0.77-0.92) em P2 (p = 0.164); as predições realizadas com alto grau de confiança alcançaram significado estatístico (melhoria de 13%, IC 95%, 3-22%; p = 0.022). O valor preditivo negativo para histologia adenomatosa dos pólipos diminutos recto-sigmóides foi de 81% (IC 95%, 64-93%) e 80% (IC 95%, 59-93%), em P1 e P2, respetivamente. CONCLUSÕES: Endoscopistas sem experiência em NBI alcançaram acuidade moderada no diagnóstico óptico em tempo real de lesões colo-rectais, utilizando as classificações de NICE/WASP. O desempenho global melhorou após a utilização contínua do diagnóstico óptico, mas não alcançou o limiar definido para a implementação da estratégia de "não ressecar".

Distant Thromboembolic Disease Diagnosed by Endoscopic Ultrasound in Pancreatic Cancer: A Case Series.

Thrombosis and cancer have a very well-known association. Pancreatic cancer has the highest risk for thrombotic events amongst gastrointestinal cancers and is a leading direct cause of death in cancer patients. We assessed the role of endoscopic ultrasound (EUS) in identifying distant thrombotic events in pancreatic cancer patients. We performed a retrospective review of all EUS cases for pancreatic cancer in two centers and assessed all remotely located thrombotic events diagnosed. In a period of 6 months, a total of 55 EUS for pancreatic neoplasm were performed and the following thrombotic events were identified in 4 patients (7.3%): pulmonary thromboembolism (75%) and vena cava thrombosis (25%). The authors present these 4 cases of thrombotic disease identified by EUS, 50% of them previously missed by noninvasive imaging. EUS evaluation is not seldom limited to the targeted lesion prior identified in other imaging studies. Vascular thrombus can be an incidental finding on EUS. If untreated, pulmonary embolism has a high overall mortality. This series underlines the importance of a systematic, station approach EUS technique, namely in the mediastinum, regardless of the clinical indication.

A trombose e o cancro têm uma associação bem conhe-cida. As neoplasias pancreáticas têm, de todos os tumores gastrointestinais, o risco mais elevado de eventos trom-bóticos e são uma das principais causas diretas de morte nestes doentes. Pretendeu avaliar-se o papel da ultrassonografia endoscópica (EUS) na identificação de eventos trombóticos à distância em doentes com neopla-sias pancreáticas. Realizámos uma análise retrospetiva de todas as EUS realizadas por neoplasias pancreáticas em dois centros e analisámos os eventos trombóticos re-motamente localizados diagnosticados. Num período de 6 meses, foram realizadas um total de 55 EUS por neopla-sias pancreáticas e foram identificados estes eventos trombóticos em 4 doentes (7.3%): 75% tromboembolis-mo pulmonar e 25% trombose da veia cava inferior. Os autores apresentam estes 4 casos de doença trombótica identificada na EUS, sendo que metade deles não tinham sido diagnosticados pelos métodos de imagem não inva-sivos já realizados. Não infrequentemente, a avaliação por EUS é limitada à lesão alvo previamente identificada por outros métodos de imagem. Os trombos vasculares po-dem ser um achado acidental na EUS. Se não tratado, o tromboembolismo pulmonar tem uma alta taxa de mor-talidade. Esta série reforça a importância de uma aborda-gem sistemática, por estação, na EUS, principalmente no mediastino, independentemente da indicação clínica.

Transmural Healing Is Associated with Improved Long-term Outcomes of Patients with Crohn's Disease.

BACKGROUND: Mucosal healing (MH) is currently accepted as one of the best treatment targets in Crohn's disease. However, even in patients with sustained MH, residual bowel wall inflammation can still be detected by cross-sectional imaging. The long-term benefits of obtaining transmural healing (TH) have not been previously assessed. METHODS: We performed an observational study including 214 patients with Crohn's disease with a magnetic resonance enterography (MRE) and colonoscopy performed within a 6-month interval. Patients were classified as having TH (inactive MRE and colonoscopy), MH (active MRE with inactive colonoscopy), or no healing (active colonoscopy). Need for surgery, hospital admission, and therapy escalation were evaluated at 12 months of follow-up. RESULTS: Patients with TH presented lower rates of hospital admission, therapy escalation, and surgery than patients with MH or no healing. In logistic regression analysis, endoscopic remission (odds ratio 0.331 95% confidence interval [0.178-0.614], P < 0.001) and MRE remission (odds ratio 0.270 95% confidence interval [0.130-0.564], P < 0.001) were independently associated with a lower likelihood of reaching any unfavorable outcome. CONCLUSIONS: TH is associated with improved long-term outcomes in Crohn's disease and may be a more suitable target than MH.