Deciphering the clinical spectrum of gastric disease in patients with Juvenile Polyposis Syndrome.

BACKGROUND AND AIMS: Juvenile Polyposis Syndrome (JPS) is a rare hereditary autosomal dominant cancer-predisposition syndrome caused by germline pathogenic variants (PV) located in SMAD4 or BMPR1A genes. Precise clinical and endoscopic presentation as the evolution of gastric lesions remain ill-known. METHODS: Clinical, endoscopic, genetic, pathological data from patients with SMAD4 or BMPR1A PVs included between 2007 and 2020 in the French network on rare digestive polyposis (RENAPOL) database were prospectively collected to address uncertainties regarding gastric involvement. RESULTS: Thirty-six patients were included: 25 (69.5%) had SMAD4 PVs, 11 had BMPR1A PVs. For SMAD4 PV carriers, median age at inclusion was 43.0 years [range 10-78]. At baseline esophagogastroduodenoscopy (EGD), 22/25 (88%) exhibited at least one gastric juvenile polyp, 5/25 (20%) had macroscopic signs of inflammatory gastritis. Early gastric disease was mostly located under the cardia, then progressed to gastric antrum and body. During a mean follow-up period of 55.0 months, 12/25 had gastric disease progression (i.e. new juvenile polyps (91.6%), diffuse gastric involvement (41.6%), inflammatory flat progression (25%)). Among 62 biopsies, low-grade dysplasia was observed in 5 (7.5%) samples from 2 patients. Nine carriers (36%) underwent gastrectomy (mean age of 47.2 years) due to diffuse gastric involvement or worsening clinical symptoms. Gastric adenocarcinoma (T1) was found in one gastrectomy specimen. Among the 11 patients with BMPR1A PVs, 2 had gastric hamartomatomas at baseline EGD, none with dysplasia or symptoms. CONCLUSION: Gastric involvement in JPS appears to be progressive during life, initiating in the cardia area, and mostly concerns SMAD4 PV carriers.

Endoscopic Gastrointestinal Placement of Capsule Endoscopy to Investigate the Small Bowel: a Multicentric European Retrospective Series of 630 Procedures in Adult Patients.

BACKGROUND AND AIMS: Small bowel (SB) capsule endoscopy (CE) is a first line procedure for exploring the SB. Endoscopic GastroIntestinal PlacemenT (EGIPT) of SB CE is sometimes necessary. While the experience of EGIPT is large in pediatric populations, we aimed to describe the safety, efficacy and outcomes of EGIPT of SB CE in adult patients. METHODS: The international CApsule endoscopy REsearch (iCARE) group set up a retrospective multicenter study. Patients over 18 year-old who underwent EGIPT of SB CE before May 2022 were included. Data were collected from medical records and capsule recordings. The primary endpoint was the technical success rate of the EGIPT procedures. RESULTS: 630 patients were included (mean age 62.5 years old, 55.9% female) from 39,565 patients (1.6%) issued from 29 centers. EGIPT technical success was achieved in 610 procedures (96.8%). Anesthesia (moderate/deep sedation or general anesthesia) and centers with intermediate or high procedure loads were independent factors of technical success. Severe adverse events occurred in three (0.5%) patients. When technically successful, EGIPT was associated with a high SB CE completion rate (84.4%) and with a substantial diagnostic yield (61.1%). Completion rate was significantly higher when the capsule was delivered in the SB compared to when delivered in the stomach. CONCLUSION: EGIPT of SB CE is highly feasible, safe and comes with high completion rate and diagnostic yield. When indicated, it should rather be performed under anesthesia and the capsule should be delivered in the duodenum rather than in the stomach, for better SB examination outcomes.

Coordinated prospective follow-up of Lynch syndrome is able to detect the majority of incident cancers.

BACKGROUND: Lynch syndrome is one of the most common genetic predispositions to many cancers, most of which do not have a consensus recommendation for screening. AIMS: We studied in our region the value of a systematized and coordinated follow-up program for patients with Lynch syndrome on all organs at risk. METHODS: A multicenter prospective cohort evaluation was performed, from January 2016 to June 2021. RESULTS: One hundred and seventy-eight patients were prospectively included (104 women (58%), median age 44 years, range 35-56 years) with a median follow-up of 4 years (range 2.5-5 years), corresponding to a total of 652 patient-years. The overall cancer incidence rate was 13.80 per 1000 patient-years. Seven of nine cancers (78%) were detected during the follow-up program, with all cancers identified at an early stage. The detection rate of adenomas during colonoscopies was 24%. CONCLUSION: These preliminary data suggest that coordinated prospective follow-up of Lynch syndrome is capable of detecting the majority of incident cancers, particularly for locations not covered by an international follow-up recommendation. However, these results need to be confirmed by larger-scale studies.

Juvenile polyposis: Focus on less described manifestations.

Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading to different clinical presentations. It is associated in some patients with a different syndrome, Hereditary Hemorragic Telangiectasia, justifying a complementary and different management. Recent international recommendations help in managing this very rare disease, and this management should probably be restricted to expert centers able to take care of the multiple manifestations and risks of these patients and families. This paper will focus on the poorly known and evaluated aspects of juvenile polyposis, excluding the colonic involvement and epidemiology that are addressed in a different article of this issue.

Zenker diverticulum treatment: retrospective comparison of flexible endoscopic window technique and surgical approaches.

INTRODUCTION: Different treatments exist for Zenker diverticulum. We compared flexible endoscopic myotomy of the cricopharyngeal muscle, using a technique called the "window technique" in order to improve the field of view, to surgical approaches. MATERIALS AND METHODS: Patients were retrospectively included and divided into a gastrointestinal group, with flexible endoscopic myotomy, and an ear-nose-throat treatments group with either rigid endoscopic treatment, either cervicotomy. We evaluated effectiveness in terms of quality of life (on a scale on 0 to 10) safety and technical aspects of each procedure. RESULTS: A total 106 patients who underwent 128 interventions were included. Rigid endoscopic procedures were the shortest (p < 0.001), with no difference for adverse event. Endoscopic approaches, flexible and rigid ones, were associated with shorter time to intake resumption (1 and 3 days, respectively, vs 6 after cervicotomy) and shorter length of hospital stay (3 and 4 days, respectively, vs 7 after cervicotomy) (p = 0.001). Post-operative QoL was better after flexible endoscopy (9/10) and open cervicotomy (9/10) than after rigid endoscopy (7/10) (p = 0.004). Patients declared fewer residual symptoms after open cervicotomy (77% of low symptomatic patients) and flexible endoscopy (80%) than after rigid endoscopy (43%) (p = 0.003). Conversion to open surgery was more frequent during rigid than flexible endoscopies (18% vs 0%, p = 0.0008). CONCLUSION: Flexible endoscopic approach of Zenker diverticulum treatment seems to be safe and effective and may be an alternative to surgical approaches. Myotomy can be eventually helped by the window technique.