Esophageal Stricture Research Articles

Ruminant stimulating device-associated esophageal obstruction in a Japanese black heifer with acquired esophageal diverticulum.

Esophageal diseases include esophageal obstruction, esophagitis, esophageal stricture, and esophageal diverticulum. Imaging can facilitate the selection of appropriate treatment options and assist in differential diagnosis. Esophageal obstruction in cattle is generally caused by greedy nature of chewing and swallowing of food and foreign structures, including stones, potatoes, trichobezoar, carrots, foodstuffs (i.e., hay), and rice chaff. Esophageal obstruction in cattle can also be caused by artificial procedures, and early detection and treatment are important to avoid severe esophageal injury and its associated risks. Herein, an 11-month-old Japanese black heifer presented with swelling and induration of the neck and snowball crepitation in the subcutaneous area of the left shoulder. Radiography and endoscopy revealed a spring-like foreign body in the esophagus and a cervical esophageal obstruction. Esophageal surgery confirmed that the foreign body was a ruminal mechanical stimulating brush (RB). The case died on day 8 after the initial examination. Pathological necropsy revealed that the RB had entered the esophageal diverticulum and caused esophageal obstruction. This case provides a valuable reminder about the risk of esophageal disease with oral administration procedures.

Establishing normal values for pediatric esophageal diameter on fluoroscopy.

Standardized values for esophageal diameter on fluoroscopy have not been established. These values may help in the diagnosis of long-segment and diffuse esophageal narrowing, which can sometimes be subtle and difficult to diagnose. Our objective was to establish normal values for esophageal diameter based on age for patients between 1 and 17years old. Our retrospective study included 160 patients separated into eight groups by age with documented normal upper gastrointestinal fluoroscopic examination and normal esophageal biopsy. Three readers measured esophageal diameters in the three locations and two projections. Intra-class correlation coefficients were calculated in order to gauge reader measurement agreement. Student's t-tests were used to evaluate for statistically significant differences between male and female patients. Finally, overall means and 95% confidence intervals were calculated at each esophageal level by age group. Our readers demonstrated excellent measurement agreement (ICCs > 0.75). Three individual esophageal measurements varied between the biological sexes, but there was no reliable statistically significant difference. There was a linear upward trend in esophageal diameter with age. For each age group, the means, standard deviations, and 95% confidence intervals were calculated for esophageal diameter in each location and projection. Across all included ages, the mean esophageal diameter rangedfrom 11-21mm on the anteroposterior projection and 8-17mm on the lateral. The provided ranges of normal esophageal diameters at each age and location in the pediatric population are quantitative metrics which can be used in the interpretation of fluoroscopic examinations. New reference values may lead to earlier diagnosis of esophageal pathology in the pediatric population.

AHP SO03 - The role of the specialist upper gastrointestinal (UGI) benign dietitian in the management of benign UGI disorders – a review of the outpatient referral base

Abstract Background Benign UGI disorders can negatively affect patients’ nutritional status by impacting on oral intake and/or through malabsorption. GSTT performs a high volume of benign UGI surgeries and is a tertiary referral centre for oesophageal reconstructions and complex hernias. The role of the dedicated specialist UGI benign dietitian was established in 2019 to provide dietetic expertise to the UGI multidisciplinary team (MDT). It supports patients before and after surgery with the aim of reducing post-operative complications, length of hospital stay, re-admissions and improving patient experience and quality of life. Method Outpatient referrals to the UGI benign dietetic service between 02/02/2024 and 06/06/2024 were reviewed for source of referral, reason for dietetic referral and UGI diagnosis. Results Twenty-five new referrals were received from a variety of clinical specialities (table 1). The primary UGI disorders of referrals are outlined in table 2, with complex hernia repair being the most common. Table 3 outlines the broad range referral reasons. Nutrition support referrals were received for the following disorders: achalasia, oesophageal stricture and following oesophageal perforation, hiatus hernia repair, cholecystectomy and oesophagectomy. All weight management referrals were for complex hernia repair patients. Referrals for the side-effects of UGI surgery included dietetic support with pancreatic exocrine insufficiency (pancreatectomy; distal gastrectomy), dumping syndrome (hiatus hernia repair) and delayed gastric emptying (oesophagectomy). Conclusion The role of the benign UGI dietitian requires skills and expertise in a broad range of dietetic interventions. The service is well utilised by surgical and non-surgical colleagues. Next steps for service development would be to review the impact of interventions on surgical and patient reported outcomes, and explore feasibility of patient groups to deliver dietetic advice (for example weight reduction prior to surgery) to improve capacity within the service.

A novel piglet model of esophageal stricture following variable segmental esophageal resection and re-anastomosis.

Esophageal strictures following esophageal atresia repair are a source of significant morbidity. To test new therapeutic approaches, we designed a piglet model of esophageal stricture by resecting variable lengths of esophagus with subsequent re-anastomosis. This study describes the model and validates its physiologic impact by blinded analysis of the weight gains of the piglets. A total of 24 two-week old Pietrain piglets had esophageal resections performed, ranging from 0 to 5 cm, with the goal of inducing postoperative esophageal strictures. Postoperative body-weights were evaluated by repeated analysis of variance followed by pairwise group-comparisons based on estimated marginal means. In addition, body weight was modeled by linear-mixed model regression. Different resection lengths were compared. The esophagi were evaluated postmortem for stricture. Of 24 operated piglets, 23 reached the endpoint, and 90% developed an esophageal stricture that was radiologically visible in a contrast study, as well as appreciable macroscopically in the necropsy. We found differences in pre- and postoperative body weights for all piglets (F (1, 18) = 298.54, p < 0.001), but no differences between resection lengths (F (4, 18) = 0.36, p = 0.837). Our model of postoperative esophageal stricture offers the opportunity to investigate potential treatments for strictures associated with esophageal atresia, since it reliably induces strictures and results in minimal loss of animals. The similar body weight gain in all groups indicates that stricture is mainly the result of esophageal resection and re-anastomosis, regardless of the length of the resected segment.

Double Trouble: A Rare Case of Dual Esophageal Stenosis in a 4-month-old

ABSTRACT Esophageal stenosis is an uncommon clinical condition defined as a fixed narrowing of the esophagus. It can be congenital or acquired. The incidence of congenital esophageal stenosis (CES) is 1 in 25,000–50,000 live births. Most of these patients present in early infancy and many of them require surgical intervention. We report a very interesting case of a 4-month-old child with esophageal stenosis involving two different segments of the esophagus who was successfully treated surgically. This is one of the rarest variants of CES which involves two different segments of the esophagus.

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition. With its genetic heterogeneity, variable penetrance and expressivity, DBAS poses significant diagnostic challenges, necessitating advancements in genetic testing for improved accuracy. Here, we present the case of an 18-year-old male with a long-standing macrocytic anemia that remained undiagnosed despite standard whole exome sequencing (WES). Revisiting a family-trio WES analysis with clinical insight led to the identification of a likely pathogenic variant in the Ribosomal Protein S17 (RPS17) gene, previously masked due to analytical challenges and conservative filter settings. This variant, an initiation codon mutation, was confirmed in heterozygosity in both the proband and his mother through Sanger sequencing. Comprehensive imaging studies showed no malformations or organ anomalies in either individual, except for mild esophageal stenosis observed in both. RPS17 mutations, particularly those affecting the initiation codon, have previously been linked to the DBAS phenotype, but strong pathogenic association has not yet been firmly established. Our case warns of potential underdiagnosis of RPS17 variants in DBAS, highlighting the importance of clinical context and interdisciplinary collaboration in interpreting WES data to avoid false-negative results.

Practice patterns for eosinophilic esophagitis vary widely among Canadian gastroenterologists: a nationwide survey

Abstract Introduction Eosinophilic esophagitis (EoE) is a chronic allergic, type 2, immune-mediated condition of the oesophagus, resulting in dysmotility and oesophageal stricturing. This study aims to identify practice variation among Canadian gastroenterologists treating adults with EoE. Methods A cross-sectional, web-based survey was distributed to Canadian gastroenterologists through the Canadian Association of Gastroenterology and administrations of Canadian universities. Results Seventy gastroenterologists completed the survey, with 59% working in academic practice or research. Overall, 90% of gastroenterologists require histological evidence of EoE to establish a diagnosis of EoE, while 50% require clinical symptoms of oesophageal dysfunction; 39% of gastroenterologists take less than 5 biopsies when assessing for EoE, with variability in biopsy location. Only 51% of respondents took biopsies in every case presenting with acute food bolus. Proton pump inhibitors were the initial therapy of 70% of gastroenterologists, with 11% using topical steroids. The preferred dietary approach was the 6-food elimination diet in 36%, followed by the 2-food elimination diet in 26%. Overall, 27% of participants did not use histologic improvement and 63% did not use endoscopic improvement to evaluate treatment response. Use of EoE Endoscopic Reference Score (EREFS) is low, with 56% being either unaware of what EREFS is or never using it. Most respondents feel Canadian guidelines would be helpful in their practice. Conclusions Eosinophilic esophagitis practice patterns among Canadian gastroenterologists are variable and differ from consensus guidelines. The development of Canadian guidelines and continuing medical education content can be considered to improve the management of EoE in Canada.

Effect of castor oil on esophageal stricture in rats and expression of ST-2, neopterin proteins in corrosive burn model

Corrosive esophageal burn (CEB) is a disease with high mortality and morbidity rates. The aim of this study was to determine the efficacy of castor oil, in preventing stricture development at the experimental CEB model. In addition to studying standard histopathological damage data, neopterin, IL-33, and ST-2 proteins were also studied for the first time. Fifty Wistar-Albino rats were divided into randomized 5 groups. [Sham group (G1) (n:10), Control group (G2) (n:10), Early Stage Topical Application group (G3)(n:10), Late Stage Topical Application group (G4) (n:10), Oral Application group (G5) (n:10)]. Weight measurement, esophageal length, histopathological damage score (HDS) and total stenosis score (TSS), tissue caspase-3 and VEGF staining, tissue hydroxyproline (HYP), blood TNF-alpha, IL-6, IL-33, Neopterin, and ST-2 levels were measured. In the castor oil application groups, weight gain was observed, the acute phase reaction decreased, submucosal/tunica muscularis fibrosis (TMF) and muscularis mucosal damage (MMD) were reduced, and TSS and HDS decreased. While no significant difference was detected in the ST-2 protein, which was used for the first time in this study model, a significant increase in neopterin protein was observed in the application groups. Results indicate the nutritional contribution of castor oil, as well as its tissue healing and esophageal stricture-preventing efficacy at histopathological and immune-histochemical levels.

Clinical characteristics of patients with eosinophilic esophagitis and eosinophilic esophageal myositis based on esophageal motility.

Eosinophilic esophagitis (EoE) presents with various esophageal motility disorders, and some cases of hypercontractile esophagus (HE) are associated with eosinophilic esophageal myositis (EoEM). This study aimed to compare the clinical characteristics of patients with EoE and EoEM according to their esophageal motility. The 28 patients with EoE and 2 patients with EoEM were divided into three groups based on esophageal motility: normal motility group, hypomotility group, and spastic contraction group. The clinical characteristics of the three groups were retrospectively compared. Among the 28 patients with EoE, there were 15 with normal esophageal motility, 9 with hypomotility (2 with absent contractility, 7 with ineffective esophageal motility), and 4 with spastic contractions (1 with type III achalasia, 1 with HE, 2 with unclassifiable multipeak contractions). The two patients with EoEM had HE. Most patients in the normal and hypomotility groups had typical endoscopic findings of EoE, whereas these typical findings were less common in the spastic contraction group (P < 0.001). Four of the five patients with esophageal stricture were in the hypomotility group (P = 0.036). The therapy method significantly differed between the three groups: the normal group had more patients that responded to a proton pump inhibitor or potassium-competitive acid blocker, the hypomotility group had more patients that responded to steroids, and the spastic contraction group contained two patients treated with per-oral endoscopic myotomy (P = 0.021). The endoscopic findings and therapy methods differ between patients with EoE and EoEM based on the esophageal motility.

Oesophageal Dilation Using Combined Fluoroscopy Guidance and Neonatal Scope: Overcoming Narrow Lumen Challenges in Paediatric Cases- Two Case Reports

This report highlights the management of two complex oesophageal strictures using an innovative combined endoscopic and fluoroscopic technique. The first case involves a 12-year-old boy with epidermolysis bullosa, where conventional endoscopic methods were inadequate. The second case details a premature infant with an anastomotic stricture post-oesophageal atresia repair. Both patients underwent successful dilation with a neonatal endoscope and fluoroscopic guidance, overcoming significant technical challenges. This approach demonstrates a promising alternative for handling severe and refractory oesophageal strictures.

A case of esophageal squamous cell carcinoma with epidermization showing a unique morphology.

An 80-year-old woman with a history of endoscopic balloon dilation for esophageal stricture caused by accidental ingestion of caustic soda during infancy presented with dysphagia. Upper gastrointestinal endoscopy revealed a 10-cm-long, highly white, elevated lesion with a feathered appearance. This lesion was determined to be the cause of dysphagia and was completely resected via endoscopic submucosal dissection. Histopathological examination revealed a thick keratin layer on the surface of the stratified squamous epithelium, with a prominent granular layer underneath and some areas showing nuclear atypia. The lesion was diagnosed as a well-differentiated squamous cell carcinoma, pT1a-LPM, derived from epidermoid metaplasia. Cancer genome analysis revealed mutations in TP53 as well as amplification of MYC, FGFR1, chromosome 7, and chromosome 20q. This case suggests that epidermoid metaplasia caused by chronic irritation from an esophageal stricture may have been exacerbated by the dilation procedure.

Left aortic arch and aberrant right subclavian artery in children: spectrum of symptoms and response to surgical intervention.

Children with left aortic arch and aberrant right subclavian artery may present with either respiratory or swallowing symptoms beyond the classically described solid-food dysphagia. We describe the clinical features and outcomes of children undergoing surgical repair of an aberrant right subclavian artery. This was a retrospective review of children undergoing repair of an aberrant right subclavian artery between 2017 and 2022. Primary outcome was symptom improvement. Pre- and post-operative questionnaires were used to assess dysphagia (PEDI-EAT-10) and respiratory symptoms (PEDI-TBM-7). Paired t-test and Fisher's exact test were used to analyse symptom resolution. Secondary outcomes included perioperative outcomes, complications, and length of stay. Twenty children, median age 2 years (IQR 1-11), were included. All presented with swallowing symptoms, and 14 (70%) also experienced respiratory symptoms. Statistically significant improvements in symptoms were reported for both respiratory and swallowing symptoms. Paired (pre- and post-op) PEDI-EAT-10 and PEDI-TBM-7 scores were obtained for nine patients, resulting in mean (± SD) scores decreasing (improvement in symptoms) from 19.9 (± 9.3) to 2.4 (± 2.5) p = 0.001, and 8.7 (± 4.7) to 2.8 (± 4.0) p = 0.006, respectively. Reoperation was required in one patient due to persistent dysphagia from an oesophageal stricture. Other complications included lymphatic drainage (n = 4) and transient left vocal cord hypomobility (n = 1). Children with a left aortic arch with aberrant right subclavian artery can present with oesophageal and respiratory symptoms beyond solid food dysphagia. A thorough multidisciplinary evaluation is imperative to identify patients who can benefit from surgical repair, which appears to be safe and effective.

Effective use of semi-elemental diet in managing anastomotic leakage after surgery for esophageal stricture

Anastomotic leakage occurs in ±10% of patients after surgery for esophageal stricture. Management often requires re-surgery, which increases morbidity and mortality. This case report shows successful conservative management of anastomotic leakage with semi-elemental diet.

Esophagitis, treatment outcomes, and long-term follow-up in children with esophageal atresia.

Survival rates in children born with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) have improved; however, morbidity associated with the disease remains high. This study aimed to assess the prevalence of gastroesophageal reflux disease (GERD), eosinophilic esophagitis (EoE), fungal esophagitis, esophageal strictures, and long-term outcomes in children with EA/TEF. We conducted a retrospective chart review on patients with EA/TEF who were seen at Children's Wisconsin from January 2003 to January 2023. Patients born with EA/TEF were included if they underwent at least one endoscopy after 1 year of age. GERD was diagnosed based on abnormal findings on endoscopy, pH-metry, and/or history of fundoplication. EoE and fungal esophagitis were diagnosed based on abnormal endoscopy. Esophageal stricture diagnosis was based on findings on endoscopy and/or esophagram, and clinical symptoms necessitating esophageal dilation. Eighty-five patients (64.7% males, mean age 7.5 years) were included, the majority had type C EA/TEF (90.6%). GERD was diagnosed in 61.1% (n = 52), 49.4% (n = 42) by macro and/or microscopic endoscopic findings, 22.3% (n = 19) by abnormal pH-metry, and 21.1% (n = 18) by the need for fundoplication for refractory reflux and/or esophageal stricture. Risk of GERD increased with lower gestational age (p = 0.0030), lower birth weight (p = 0.023), and long-gap EA (p = 0.034). In children diagnosed with GERD, only 13.4% of patients (n = 7/52) were able to be weaned off proton pump inhibitor (PPI) without disease recurrence. However, overall, at the completion of the study, 44.7% (n = 38) of patients were successfully weaned off PPI without evidence of GERD. EoE was diagnosed in 20% of the patients (n = 17). All patients diagnosed with EoE required escalation of therapy from PPI alone to swallowed corticosteroids in 52.9% (n = 9), dupilumab in 23.5% (n = 4), elemental formula in 17.6% (n = 3), and elemental formula and swallowed steroids in 5.8% (n = 1). Fungal esophagitis was diagnosed in 15.3% of patients (n = 13). An esophageal stricture requiring dilation was diagnosed in 77.6% (n = 66) of patients at a mean age of 28.5 months, with over 60% diagnosed by 24 months of age. Children born with EA/TEF continue to be at high risk of developing GERD, EoE, fungal esophagitis, and esophageal stenosis. Diagnostic and therapeutic endoscopy remains a high-yield test to identify and treat these comorbidities.

Betulin gel alleviates esophageal stricture following endoscopic submucosal dissection: an animal study.

Esophageal stenosis is a troublesome complication after circumferential ESD. This study examined the efficacy of betulin gel in preventing esophageal stenosis after ESD in a porcine model. Twelve pigs were randomized to betulin group and control group evenly. At the distal esophagus, circumferential ESD was performed in all animals. In the betulin group, betulin gel was applied at days 1, 3, and 7. Endoscopy examination was performed at day 3, 1week, 2weeks, and 4weeks post-ESD. Then pigs were killed for macroscopic and histologic esophageal evaluation. The rate of esophageal stricture was lower in the betulin group (53.3 ± 12.5% vs 88.3% ± 2.9, p = 0.02). Betulin-treated pigs had lower dysphagia score (2.0 ± 0 vs 3.3 ± 0.5, p < 0.001), less weight loss (11.78% ± 2.16 vs 15.85% ± 3.63, p = 0.04), and better passability of the open and closed biopsies forceps (83.33% vs. 0%, p = 0.015, and 100% vs. 0%, p = 0.002) 4weeks post-ESD. Histologically, better re-epithelization (63.2 ± 10.7mm vs 22.8 ± 10.1mm, p < 0.001), slighter submucosal fibrosis (0.95 ± 0.17mm vs 2.32 ± 0.48mm, p = 0.002), lower muscularis propria damage score (1 vs 3, p < 0.001), and less inflammatory cells (307 vs 675 per high-power field, p = 0.002) were noted in the betulin group. The expression levels of TGF-β1, collagen i, collagen III, and α-SMA were significantly lower in the betulin group compared to the control group (p < 0.05). Betulin gel shows promise in reducing fibrosis, enhancing repair, and preventing esophageal stricture after ESD, suggesting a potential new strategy for prevention.

Effect of sprayable, highly adhesive hydrophobized gelatin microparticles on esophageal stenosis after endoscopic submucosal dissection: an experimental study in a swine model.

Esophageal mucosal resection for superficial esophageal cancer can lead to postoperative esophageal stricture, with current preventive measures being insufficient. Sprayable wound dressings containing hydrophobized microparticles exhibit strong adhesion. This study aimed to investigate the preventive effects of hydrophobized microparticles on esophageal stenosis following endoscopic submucosal dissection. Circumferential esophageal endoscopic submucosal dissection was performed on miniature swine (n = 6). Swine were categorized into two groups: those sprayed with hydrophobized microparticles (sprayed group) and those not sprayed (non-sprayed group). Hydrophobized microparticles were sprayed onto the sprayed group on Days 0, 3, and 7 of endoscopic submucosal dissection. The non-sprayed group underwent endoscopy on the same days. Esophageal stricture rate, submucosal inflammatory cell infiltration, submucosal fibrosis, and thickening of the muscular layer were compared between the groups on Day 14 of endoscopic submucosal dissection. Spraying of hydrophobized microparticles was easily performed using an existing endoscopic spraying device. The esophageal stricture rate was significantly lower in the sprayed group than in the non-sprayed group (76.1% versus 90.6%, p < 0.05). The sprayed group showed suppression of inflammatory cell infiltration in the submucosal layer (p < 0.01) and thickening of the muscular layer (p < 0.01). Sprayable tissue-adhesive hydrophobized microparticles reduce the stricture rate after esophageal ESD by inhibiting inflammatory cell infiltration, submucosal fibrosis, and thickening of the muscular layer. The use of hydrophobized microparticles for preventing post-endoscopic submucosal dissection esophageal stenosis offers a promising avenue for clinical applications in endoscopic procedures, potentially improving patient outcomes.

Involved-field high-dose chemoradiotherapy with respiratory motion management for esophageal squamous cell carcinoma.

We investigated the clinical outcomes of involved-field high-dose (≥66 Gy) chemoradiotherapy (CRT) combined with respiratory motion management for esophageal squamous cell carcinoma (ESCC). Patients who underwent definitive CRT for histologically confirmed ESCC in our department between 2012 and 2018 were retrospectively analyzed. Respiratory motion management strategies included breath-holding (63%) and mask immobilization (29%) based on individual measurements of respiratory tumor motion using radiographic fluoroscopy with endoscopically placed clip markers as landmarks. We evaluated patient characteristics, treatment efficacy, failure patterns, and toxicities. We enrolled 35 patients with a prescribed dose of 66-70 Gy in 33-35 fractions. The overall response rate within 6 months post-CRT was 94.3%; the median follow-up period for survivors was 43 months. The 2-year overall survival (OS), progression-free survival, and locoregional failure-free survival rates were 51.4%, 42.9%, and 42.9%, respectively. A significant difference in OS was observed between patients with and without esophageal fistulas after CRT (p = 0.002, log-rank test). Disease failure occurred in 16 patients (45.7%), including one (2.9%) with out-of-field regional nodal failure. Major grade 3 or higher toxicities included decreased white blood cell count (48.6%), neutrophil count (34.3%), and esophageal stenosis (31.4%). No grade 3 or higher cardiopulmonary toxicities were observed. Bronchial/tracheal tumor compression and a higher radiotherapy dose (70 Gy) were significantly correlated with esophageal fistulas. Involved-field high-dose CRT with respiratory motion management may be a feasible treatment option for ESCC. However, a comprehensive assessment of esophageal fistula risk is required to identify suitable candidates.

Prediction of post-ESD esophageal stricture by a nomogram and risk factor analysis of ineffective oral steroids prophylaxis

Background and aimsSeveral risk models for esophageal stricture after endoscopic submucosal dissection have been developed. However, some of them did not include the use of steroids in the risk analysis. Glucocorticoid sensitivity mediated by glucocorticoid receptor expression has not been discussed in this condition.MethodsClinical and endoscopic characteristics were included in the logistic regression model to establish a nomogram for stenosis prediction. The score for each risk factor was estimated. Risk factors of ineffective oral steroid prophylaxis were analyzed and glucocorticoid receptor expressions were detected by immunohistochemistry.ResultsThree hundred fourteen patients of endoscopic submucosal dissection for esophageal superficial neoplasms were included to develop the nomogram. The circumferential range(≤ 3/4, 3/4–1 or the whole circumference), longitudinal diameter reached 4 cm (yes or not) and lesion location (the cervical and upper thoracic part, the middle thoracic part or the lower thoracic part) consisted of the nomogram. Patients have a high risk of esophageal stricture if they have a total point greater than 36. In the simplified risk score model, the corresponding cutoff score was 1. 92 patients with oral steroid prophylaxis were separately analyzed and the circumferential mucosal defect involving 7/8 or more was an independent risk factor of ineffective prevention (OR 12.2, 95%CI 5.27–28.11). The expression of glucocorticoid receptor β was higher in the stricture group (p = 0.042 for AOD; p = 0.016 for the scoring system).ConclusionsWe established a nomogram for esophageal stricture prediction. Depending on the characteristics of lesions, it is possible to estimate the risk of stricture under routine post-ESD treatments (no steroids or oral steroids). Alternative treatments should be considered if the risk is extremely high, especially for patients with mucosal defects involving 7/8 or more of circumference in which oral steroid treatment tends to be ineffective. The higher glucocorticoid receptor β may indicate potential glucocorticoid resistance.

Self-expanding metal stent for relieving the stricture after endoscopic injection for esophageal varices.

Esophageal stricture is one of the complications after esophageal varices sclerotherapy injection (ESI), and the incidence rate is between 2%-10%. To explore the efficacy of self-expanding metal stent (SEMS) for the stricture after endoscopic injection with cyanoacrylate (CYA) and sclerotherapy for esophageal varices. We retrospectively analyzed the efficacy of SEMS to improve the stricture after endoscopic injection with CYA and sclerotherapy for esophageal varices in 4 patients from February 2023 to June 2023. The strictures were improved in four patients after stenting. The stent was removed after two weeks because of chest pain with embedding into esophageal mucosa in one patient. The stent was removed after one month, however, the stent was reinserted because of the strictures happening again in two patients. The stent was removed after three months, however, the stent was reinserted because of the strictures happening again in one patient. The stent embedded into esophageal mucosa in three patients. There were 3 patients suffered reflux esophagitis, and the acid reflux was relieved by taking hydrotalcite. There was no other complication of esophageal perforation, bleeding from varices or infection. SEMS may relieve the stricture which happened after endoscopic injection with CYA and sclerotherapy for esophageal varices. However, when we should remove the stent still needs to be explored.

6483 Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma: A Rare Skeletal Dysplasia/Sarcoma Syndrome

Abstract Disclosure: A. Grover: None. C.R. Ferreira: None. R.I. Gafni: None. S. Jumani: None. M.T. Collins: None. K.L. Roszko: None. I.R. Hartley: None. Introduction: Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is a rare autosomal dominant syndrome associated with pathologic fractures, myopathy, premature hair graying, and aggressive osteosarcomas. DMS-MFH has been linked to genetic variants in the methylthioadenosine phosphorylase (MTAP) gene, which encodes an enzyme in the methionine salvage and polyamine synthesis pathway. This pathway is implicated in other skeletal fragility disorders, such as Snyder-Robinson syndrome, suggesting a still undefined role of this pathway in bone biology. We describe a kindred with DMS-MFH and identify diagnostic challenges. Case: A 53-year-old perimenopausal woman presented with four fragility fractures over one year. Relevant history included premature hair graying, esophageal strictures, and nephrolithiasis. The patient’s bone formation markers were slightly elevated; bone resorption markers were within reference range. Her only osteoporosis risk factor was perimenopausal status. Bone series showed a diffuse heterogeneous appearance of the long bones with a mixed lytic/sclerotic appearance. DEXA scan revealed osteopenia. Family history was significant for 2 sons with aggressive osteosarcomas diagnosed in their late teens; one died at age 20. The other son is currently 39-years-old with recurrent osteosarcomas in three different limbs. The family also has a multigenerational history of severe bone fragility, muscle weakness, and premature hair graying. The patient, her living son, and his father underwent genome sequencing that identified a variant in MTAP (c.885A&amp;gt;G; p.(R295=)) in the patient and son. This variant was previously reported in three other families with DMS-MFH and has been shown to alter splicing. Notably, commercial genetic testing did not report this as a relevant variant, and diagnosis required independent analysis of the raw sequence data. Based on these findings, the patient and her son were diagnosed with DMS-MFH. Given the bone fragility with elevated bone turnover markers we treated the patient with yearly zoledronic acid infusions with no subsequent fractures. Surveillance for osteosarcoma is also being performed with annual whole-body MRI. Conclusion: DMS-MFH has been reported in only five families to date. The sixth family described here has clinical characteristics similar to the other kindreds. Due to high risk of aggressive osteosarcoma, timely diagnosis is imperative to decrease morbidity and mortality. Commercial genome sequencing may miss this diagnosis, so targeted genetic testing should be pursued. As more cases are identified, characterization of affected families may enhance our understanding of the natural history of the disease and guide surveillance and treatment strategies. Presentation: 6/2/2024