Presence Of Gastric Mucosa Research Articles

146: THE NEED OF CDH1 GERMLINE MUTATION SCREENING IN PATIENTS WITH GASTRIC CANCER IN THE WEST

Abstract Background and aim Although the international guidelines recommend the CDH1 germline mutations screening in patients at risk of carrying pathogenic mutations, few data exist about the compliance to systematic screening programs carried out in surgical centres. Methods In the present manuscript we report the results of CDH1 germline mutations screening, undertaken in patients with gastric cancer and their relatives at high volume surgical centre of Verona University from January 2011 to July 2020. In this study HDGC 2015 Guidelines criteria were used. Results During a 10 years period, we screened 72 subjects; among them, we found a pathogenic germline genetic alteration in 37 (51,4%). 15 patients underwent to surgery due to clinically detectable tumours or positive biopsies during endoscopic surveillance; of note the youngest case of early SRC tumours detected during endoscopy was aged 15 years old. 11 underwent prophylactic gastrectomy: 8 out of 11 (72,7%) presented neoplastic foci in the specimen. During surgical operation, 7 patients required an additional oesophageal resection due to the presence of gastric mucosa at the extemporary frozen section, despite the proximal section was made above the cardia. Conclusion Based on our experience, we can conclude that the CDH1 genetic screening should be absolutely offered to high-risk Western patients, in agreement with the international guidelines. Prophylactic total gastrectomy should be considered in selected cases also under 20 years of age.

Congenital atresia of external auditory canal with choristoma: A rare case report

Congenital aural atresia (CAA) is the abnormality of the auricle and/or external auditory canal where there is closure of the external auditory canal which may be associated with microtia and anomalies in the middle ear, inner ear, or temporal bone. It can be solid or membranous type of atresia. To identify the type of defect, high-resolution computed tomography (HRCT) temporal bone is useful. After identifying the defect, the patient can be planned for canaloplasty or atresiaplasty with split skin graft. A 6-year-old boy was brought to the otorhinolaryngology outpatient department with complaints of deformity of the left ear since birth. HRCT temporal bone showed isolated left external auditory canal atresia. Echocardiogram showed dextrocardia with situs solitus and USG abdomen revealed situs inversus of the abdominal organs with no significant abnormality. After proper evaluation of the child, after obtaining preanesthetic fitness, the child had undergone atresiaplasty with split skin graft under general anesthesia. Soft tissue that was excised from the external auditory canal was sent for histopathological examination, which revealed the presence of salivary gland tissue with lymph nodes showing reactive changes. These features were suggestive of possibility of choristoma of the left external auditory canal. CAA occurs in the defect during embryological development which may result in deformity of the auricle and external auditory canal. The surgical management of congenital external auditory canal atresia is atresiaplasty, and hearing rehabilitation (bone anchored hearing aid) should be given in case of no improvement in hearing. The surgery will be challenging because of altered anatomy of surgical landmarks. Choristoma is a tumor-like growth of normal tissue in an abnormal place. It is a benign condition, which may be found commonly in the head-and-neck region such as presence of salivary gland tissue in the middle ear, presence of gastric mucosa in the tongue and presence of osseous or cartilaginous masses in the intraoral soft tissues. Total excision can be done for small and pedunculated tumors, and care should be taken not to injure facial nerve. CAA may not necessarily present with deformities in the external ear (pinna), but Congenital aural atresia cases may not always present with deformities of the pinna,but it is crucial not to miss such cases. These patients may be evaluated by doing High Resolution Computed Tomography temporal bone and audiometric assessment such as. Pediatric evaluation is equally important to rule out for any syndromic association. Atresiaplasty or canaloplasty has shown great result for correcting the cosmetic defect. Hearing can be facilitated further using bone anchored hearing aids or cochlear implantation.

The effect of Channa striata extract and standard eradication regimen on asymmetric dimethylarginine in Helicobacter pylori gastritis rat model.

Background and Aim:The presence of gastric mucosa or submucosa inflammation due to Helicobacter pylori leads to histological changes. Gastric injury, pro-inflammatory factors, and oxidative stress in H. pylori infection produce asymmetric dimethylarginine (ADMA), which are a competitive inhibitor of nitric oxide synthase. Investigations were carried out aimed at finding new drugs derived from natural products for the treatment of H. pylori. Channa striata is known to have in vitro anti-inflammatory and antimicrobial properties. This study aimed to investigate the effect of C. striata extract and a standard eradication regimen on ADMA levels and histological changes in the H. pylori gastritis rat model.Materials and Methods:Thirty-five male rats were randomly and equally divided into five groups. Group-1 was the negative control group and Groups-2 to 5 were H. pylori-infected groups. Groups-3 to 5 were administered C. striata extract, a standard eradication regimen, and a combination of standard eradication regimen and C. striata extract, respectively. Histological examination and serum ADMA levels were analyzed. The difference between groups was analyzed using the Kruskal–Wallis and one-way analysis of variance tests. The significance was p<0.05.Results:Serum ADMA levels and severity of gastritis were higher in infected groups compared to the negative control group (p<0.05). The severity of gastritis and mean ADMA levels in the group that received a single administration of the C. striata extract was higher than the others (p<0.05). Serum ADMA levels and severity of gastritis were significantly reduced in the group that received a combination of standard eradication regimen and C. striata extract (p<0.05).Conclusion:Single administration of C. striata extract worsens the severity of gastritis and increased serum ADMA levels in the H. pylori gastritis rat model. The administration of a combination of standard eradication regimen and C. striata extract reduces serum ADMA levels and significantly improves the severity of H. pylori gastritis rat model.

3213 Giant Gastric Heterotopia (GH) in the Duodenal Bulb (DB): A Possible Cause of Gastric Outlet Obstruction (GOO)

INTRODUCTION: The presence of gastric mucosa within the DB usually is an incidental finding during endoscopy and is seen in up to 8.9% of cases. While GH usually produces no symptoms, our patient presented with symptoms of GOO, which we attributed to the large size of the GH lesion, occupying &gt;50% of the DB. This case of DH merits attention due to its uncommon appearance and presentation. CASE DESCRIPTION/METHODS: A 47-year-old woman with a history of insulin-dependent diabetes mellitus presented with abdominal pain, nausea, and post-prandial emesis for 1 year. Physical exam was normal, without a sucussion splash or post-prandial abdominal distention. Hematologic testing showed a Hb 9.8 mg/Dl. Other labs, including basic metabolic panel and liver biochemical tests, were normal. Abdominal CT without IV contrast was non-diagnostic. EGD identified a single polyp in the DB measuring 1.5 cm × 2 cm (Figure 1). Additionally, there was a more distal, irregular, cratered mass in the duodenum that was surrounded by a “carpet” of mucosal nodularity consistent with the appearance of Brunner's gland hyperplasia (BGH) (Figure 2). Both areas were biopsied. The pathology of the polyp showed gastric heterotopia (Figure 3) and the cratered mass showed peptic duodenitis. DISCUSSION: GH is seen throughout the adult GI tract but most commonly in the duodenum, with an incidence of 0.5% to 8.9%. 1 In most cases, GH causes no symptoms and is undiagnosed. When symptomatic, GH may cause abdominal pain from mucosal irritation secondary to the release of hydrochloric acid from parietal cells. Rarely, as in our patient, obstructive symptoms may be present. 2 For symptomatic patients, proton pump inhibitors (PPIs) are the cornerstone of treatment as they help to decrease acid secretion and, therefore, mucosal irritation. After EGD, our patient was started on a PPI and rapidly had symptomatic improvement. We suspect that her abdominal pain resolved due to decreased acidity within the DB, and that obstructive symptoms improved secondary to decreased inflammation within the DB. We present this case as a rare example of GOO caused by GH.

Perplexing Gastrointestinal Pathology: A Case Report on Ectopic Gastric Tissue Presenting as Rectal Mass

Abstract Objectives Gastric heterotopia (GHT) is a commonly reported epithelial heterotopia and has been described as heteroplasia (congenital) during organogenesis or metaplasia (acquired) during process of damaged epithelial repair. GHT can occur along the GI tract from nose to anus; it is predominantly seen in esophagus, duodenum, and Meckel’s diverticulum. It is the most common subtype of epithelial heterotopia. However, the presence of gastric mucosa in the rectum is a very uncommon entity. The endoscopic prevalence of GHT can reach up to 11% in foregut and midgut with a lesser prevalence in hindgut. Methods We present an interesting case of heterotopic gastric mucosa presenting as a rectal mass. A 27-year-old female patient presented with lower abdominal pain and episodic bloody diarrhea. After initial workup, a colonoscopy was done, which showed a 3-cm mass in the rectum. Features of inflammatory bowel disease were not identified. Results At the first rectal biopsy, multiple fragments of gastric mucosa, with some minimally attached rectal crypts, were identified and a diagnosis of gastric heterotopia was made. Subsequently, the mass was resected and similar findings were identified, confirming the diagnosis. Our case showed mixed oxyntic and antral mucosa comingling with rectal-type mucosa. Immunohistochemical studies were performed, which showed CDX2 and CK20 being positive in rectal and CK7 in gastric mucosa. Conclusion Gastric heterotopia is a rare entity that can present as a solitary lesion. The clinical signs and symptoms can mimic those of inflammatory bowel disease. Floater or contamination is an important pitfall in this entity and can lead to an erroneously diagnose. Due to high frequency of having floater in some histology laboratories, we recommend ordering multiple deeper recuts on cases when the pathologist sees closeness or attachment of gastric tissue to the rectal tissue.

Gastric Heterotopia in the Rectum: Donʼt Let Looks Deceive You

Gastric heterotopia in the rectum is an extremely rare gastrointestinal entity with very few cases reported in the literature. Although it is an uncommon finding, it can lead to serious complications including rectal bleeding, rectal and abdominal pain, and most importantly, an increased risk for malignant transformation. Here we present a very rare case of an asymptomatic patient diagnosed with gastric heterotopia of the rectum after an initial screening colonoscopy. This is the case of a 51 year-old male with a medical history of gastroesophageal reflux disease that was seen at gastroenterology clinics for initial screening colonoscopy. At evaluation the patient was asymptomatic, denying weight loss, abdominal pain, diarrhea, constipation, melena, hematochezia, rectal pain, or changes in stool caliber. The patient had no pertinent family history and the only medication taken was omeprazole twice daily. On examination, vital signs were within normal limits and his physical did not reveal any abnormal findings. Laboratory tests were unremarkable. Colonoscopy was performed without complications and revealed four diminutive sessile polyps measuring < 0.5 cm at 2cm from anal verge (Figure 1). The histopathological evaluation revealed that all four were hyperplastic polyps (Figure 2). However, one small focus of pyloric glands and overlying foveolar type epithelium was identified (Figure 2-3), consistent with heterotopic gastric mucosa of the rectum. Gastric heterotopia refers to the presence of normal gastric mucosal tissue located in a non-physiological site, entirely apart from the stomach. It can occur anywhere along the gastrointestinal tract with most common sites being the esophagus and duodenum. However, the presence of gastric mucosa in the rectum is exceedingly rare with only approximately 50 cases described in the literature. Symptoms include painless rectal bleeding, rectal and abdominal pain. Rectum involvement of gastric heterotopia is usually observed endoscopically as a polyp, diverticula or ulcer. Histopathology is essential for diagnosis, with oxyntic type mucosa typically observed. Other histologic findings include mixed oxyntic, antral mucosa and pyloric type mucosa from which adenocarcinoma can arise. These lesions have an increased risk of malignancy, which warrants great awareness by physicians and close follow up. Here we observe that these lesions can present like a typical polyp, making biopsies an essential part of any colonoscopy.1494_A Figure 1. Diminutive sessile polyp at rectum.1494_B Figure 2. (A) Focus of pyloric glands with overlying foveolar type epithelium. (B) Hyperplastic polyp with superficial serrated architecture.1494_C Figure 3. Pyloric type gastric mucosa in rectum

A Rare Case of Symptomatic Gastric Heterotopia Causing Jejunal Intussusception

Gastric heterotopia is the presence of gastric mucosa in an abnormal location in the gastrointestinal tract. It is rarely found beyond the ligament of Treitz; and is often benign, asymptomatic, and either congenital or acquired. There are reports of bleeding, perforation, intussusception or intestinal obstruction associated with gastric heterotopia. Adult intussusception of the small intestine is a rare, representing only 5 percent of cases of intussusception. Symptomatic gastric heterotopia is rarely reported in the small bowel beyond the ligament of Treitz, and the usual presenting age is around 14 years. We present a rare case of intussusception in a young adult secondary to jejunal gastric heterotopia. A 23 year old female presented with three months of constant epigastric pain without alleviating or exacerbating factors. She had associated bilious vomiting. Patient underwent CT imaging, that revealed dilatation of the proximal jejunum, mildly thickened jejunal wall, and areas of proximal jejunojejunal intussusception. Patient then underwent a small bowel enteroscopy, that revealed a large pedunculated multi-lobulated polyp that extended 10 cm distal into the proximal jejunum. Biopsies were taken and revealed benign gastric heterotopia with surface mucosal hyperplasia. Referral was made to surgery, and the patient underwent an exploratory laparotomy with resection of the jejunum and side to side anastomosis given her symptoms and intussusception. Post operatively and upon follow up, she was tolerating a diet, having regular bowel movements, and without abdominal pain. Adult intussusception of the small intestine is rare and in most cases caused by a structural lead point. A significant proportion of these lead points are malignant neoplasms. Gastric heterotopia presenting as a mass in the jejunum is uncommon. Per Lee SM, et al, seven cases of gastric heterotopias of the jejunum presenting as a mass have been described. Although rare, symptomatic gastric heterotopia should remain in the differential and can cause intussusception or obstruction requiring surgery for management. Lee SM, Mosenthal WT, Weismann RE, Hanover NH. Tumorous hetrotopic gastric mucosa in the small intestine. Arch Surg. 1970;100:619—622. Omotosho, Philip A., et al. Giant Polypoid Gastric Heterotopia of the Jejunum Presenting with Intermittent Intussusception. Journal of Laparoendoscopic & Advanced Surgical Techniques, vol. 17, no. 2, 2007, pp. 249—2512509_A Figure 1 No Caption available.2509_B Figure 2 No Caption available.

Melanosis “Coli” in Anal Heterotopic Gastric Mucosa: A Case Report and Review of the Literature

Background: Gastric heterotopia is the presence of gastric mucosa in a foreign anatomic location. It can occur anywhere in the gastrointestinal tract and has been well documented in the esophagus. Gastric heterotopia of the anorectum is a rare occurrence. Case Report: We present a case of an asymptomatic adult male who underwent a colonoscopy during which an anal nodule was biopsied. Microscopic examination revealed oxyntic gastric mucosa with chronic active gastritis and melanosis coli. During a subsequent colonoscopy six years later, an abnormally pigmented area of anus was biopsied. Microscopic examination revealed antral gastric mucosa with chronic active gastritis. A literature review showed that there have been 72 reported cases of gastric heterotopia of the anorectum. Only four of those case occurred in the anus. Conclusion: To our knowledge, this is the first report of melanosis coli associated with gastric heterotopia of the anorectum as well as a shift in gastric mucosal type on repeat biopsy. We propose the term outlet patch for gastric heterotopia of the anorectum.

Visual Diagnosis: 12-Year-Old Girl With Constipation And Rectal Bleeding

Rectal duplication cysts are rare, thought to be due to defects in embryologic development, and often associated with other structural abnormalities. Clues to the existence of a rectal cyst are mainly due to bowel compression and presence of ectopic gastric mucosa within the cyst, leading to rectal bleeding. The diagnosis of a rectal duplication cyst requires a high index of suspicion. Confirming the diagnosis can be difficult based on the location of the cyst. Efforts to confirm the diagnosis include digital rectal examination, computed tomography, magnetic resonance imaging, ultrasonography, and Meckel scan. Surgical resection is the treatment of choice, especially because of the cyst’s potential for malignant transformation. Because of the cyst’s proximal location to the nerves innervating the anal canal and sphincters, surgical resection can lead to fecal incontinence.

The Coexistence of Primary Laryngeal Pemphigus, Oesophageal Inlet Patch and Oesophageal Stricture Presenting with Odynophagia

vulgaris while the presence of gastric mucosa in samples was suggestive of Inlet Patch. We present a coexistence of primary laryngeal pemphigus and Inlet Patch.

Perforated ileal duplication cyst: a diagnostic dilemma.

Alimentary tract duplications are rare congenital anomalies. We report a case of a 14-year-old boy, who presented with acute abdomen, with features favouring acute appendicitis. Laparotomy revealed perforated ileal duplication cyst. Resection of ileum along with cyst and anastomosis was undertaken, and proximal ileostomy performed. Postoperative recovery was uneventful and ileostomy was reversed successfully. Histopathology revealed the presence of gastric mucosa at the site of perforation.

Immunohistochemical Findings in Rectal Duplication Mimicking Rectal Prolapse

Alimentary tract duplications represent rare anomalies, with only 5 % occurring in the rectum. The variety in clinical presentation may lead to a delay in diagnosis or to incorrect and multiple surgical procedures. We report the clinical, histological and immunohistochemical characteristics of a rectal duplication occurring in a 3-month-old male with an unusual clinical presentation. Using routine histology and immunohistochemistry, the rectal duplication showed the diffuse presence of gastric mucosa with a characteristic immunophenotype (i.e., diffuse cytokeratin 7 positivity and scattered chromogranin immunoreactivity). As far as we know, this is the first report showing an immunohistochemical differentiation pattern of gastric lining in a rectal duplication. Our results, showing the presence of gastric mucosa, are suggestive of a possible origin from the embryonic foregut.

A Rare Cause of Rectal Bleeding!

Purpose: The presence of gastric mucosa in the rectum is an extremely rare clinical entity with only 29 cases reported in the English literature. Heterotopia refers to the displacement of an organ or part of an organ from its normal site. Heterotopia is the result of primary displacement or a developmental abnormality where the foreign tissue is termed “heterotopia.” Gastric heterotopia in the rectum can clinically present with hematochezia, but other complications such as rectovesical and anocutaneous fistula have been reported. We report a rare case of gastric heterotopia of rectum accompanied by a brief review of the available literature. Methods: Chart review and review of literature using Medline and relevant bibliographies. Results: A 49 year old man was referred to the gastroenterology clinic with complaints of rectal bleeding since three months. Approximately 18 months ago, the patient had a normal colonoscopic exam which was performed as a work up for abnormal bowel habits. Upon presentation, a repeat colonoscopy revealed a 3 mm sessile polyp in the distal rectum. No other anorectal pathology was evident to explain the symptoms of hematochezia. The rectal polyp was resected using electrocautery snare. The pathology report of the polyp showed fragments of gastric mucosa suggestive of heterotopia. Conclusion: The common presentations of gastric heterotopia of rectum are rectal bleeding and tenesmus, but patients may present with abdominal pain or incidental mass on colonoscopy. Hematochezia usually responds to treatment with histamine 2 receptor blockers, but endoscopic or surgical excision is the treatment of choice. The literature suggests that even an incidentally discovered gastric heterotopia of rectum in an asymptomatic patient should be removed in view of possible complications such as malignant degeneration and fistula formation.[figure1][figure2]FigureFigure

Cytokeratins 7 and 20 and Mucin Core Protein Expression in Esophageal Cervical Inlet Patch

Cervical inlet patch (CIP) is defined by the presence of gastric mucosa within the first few centimeters of the esophagus. Several endoscopic series have demonstrated a frequent association of CIP with Barrett's esophagus (BE) suggesting a pathogenetic link. A histochemical study reporting the presence of acid mucin in CIP, including sulfomucin, supports this hypothesis. We evaluated mucin core protein expression and cytokeratins 7 and 20 (CK7/CK20) pattern in biopsies of CIP, normal antrum, and BE to comment on a possible relationship of CIP with BE. We observed that both lesions have similar cytokeratin patterns with mixed CK7/CK20 reactivity on the surface and pits and lone CK7 positivity in the glands. MUC5AC was strongly expressed on the surface and pits but not in the glands of CIP and antral mucosa. Within BE, MUC5AC positivity was noted not only on the surface and pits but also in the glands. MUC6 similarly decorated the glands of CIP and BE. MUC2 was expressed rarely in CIP with goblet cells but conspicuously on the surface and pits of BE. MUC5B was seen in both CIP and BE and rarely in the antral mucosa. The similarities between CIP and BE but not with normal antral mucosa fits with the hypothesis that both lesions may originate from submucosal esophageal mucous glands. Two pathogenetic pathways can be entertained: focal upper esophageal mucosal misdevelopment in pediatric population and patchy metaplastic replacement of squamous mucosa in adults with gastroesophageal reflux disease.