Familial Duodenal Atresia, Annular Pancreas, Intestinal Malrotation and Extensive Intestinal Heterotopic Gastric Mucosa. A New Syndrome

2010 ◽  
Vol 105 ◽  
pp. S386
Author(s):  
Narmer Galeano ◽  
Francis Sunaryo
Keyword(s):  
Gastric Mucosa ◽  
Duodenal Atresia ◽  
Heterotopic Gastric Mucosa ◽  
Annular Pancreas ◽  
Intestinal Malrotation

scholarly journals Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell–Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Valeria Calcaterra ◽  
Luigi Chiricosta ◽  
Emanuela Mazzon ◽  
Agnese Gugnandolo ◽  
Daniele Alberti ◽  
...  
Keyword(s):  
Gastric Mucosa ◽  
Treatment Strategies ◽  
Neonatal Diabetes ◽  
Duodenal Atresia ◽  
Cancer Predisposition ◽  
Heterotopic Gastric Mucosa ◽  
Ras Signaling ◽  
Transcriptomic Profile ◽  
Gastric Heterotopia ◽  
Prevention And Treatment

Abstract Background Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell–Riley syndrome (MRS) associating neonatal diabetes, congenital digestive system, such as biliary atresia, pancreatic hypoplasia, duodenal and/or jejunal atresia, intestinal malrotation, gallbladder aplasia, cholestasis. A constitutive inactivation of RFX6 leads also to gastric heterotopia. Application of RNA-seq in human diseases may help to better understand pathogenic mechanism of diseases and to predict the risk of developing chronic disorders and personalizing their prevention and treatment. We evaluated oncogenic patterns and cancer predisposition using the transcriptomic profile in a case of MRS with neonatal diabetes, duodenal atresia, and extensive intestinal tract gastric heterotopia. Results We signalled the interactors of RFX6 with other up and downregulated genes, that may be interested in severity of diabetic condition, in multi-organs impairment and cancer predisposition. Furthermore, several dysregulated genes are involved in biological processes that can lead to promote cancer including “Evading apoptosis” (BAD, BBC3, EGF, FGFR2, FLT3LG, HMOX1, HRAS, IFNAR2, IGF1R, IL12RB1, IL13RA1, IL15, IL2RB, IL2RG, IL6R, KEAP1, MGST1, PDGFA, PDGFRB, PIK3R3, RALB, RALGDS, RASSF1, SOS1, TGFA, TXNRD3), “Proliferation” (APC, BRAF, CCND2, CCND3, CCNE2, FGFR2, FLT3LG, FZD1, FZD6, HMOX1, HRAS, IGF1R, KEAP1, LRP6, MAPK3, MGST1, PDGFA, PDGFB, PDGFRB, RB1, SOS1, TGFA, TXNRD3, WNT10B), “Sustained angiogenesis” (BRAF, FGFR2, FLT3LG, HRAS, IGF1R, JAG1, MAPK3, NOTCH2, PDGFA, PDGFB, PDGFRB, SOS1, TGFA, TGFB1), “Genomic instability” (BAD, BBC3) and “Insensitivity to anti-growth signals” (SMAD2, TGFB1). We also inspected the signalings and their related genes in cancer, such as “PI3K signaling”, “ERK signaling”, “JAK-STAT signaling”, “Calcium signaling”, “Other RAS signaling”, “WNT signaling”. Conclusions In our MRS patient, we signaled the interactors of RFX6 with other up- and downregulated genes that may be related to severe diabetic condition, multi-organ impairment, and cancer predisposition. Notably, many dysregulated genes may lead to triggering carcinogenesis. The possibility of the patient developing cancer degeneration in heterotopic gastric mucosa and/or additional long-term tumoral sequelae is not excluded. Personalized prevention and treatment strategies should be proposed.

scholarly journals Symptomatic Heterotopic Gastric Mucosa in Distal Esophagus

2021 ◽  
Author(s):  
Avnish Kumar Seth ◽  
Mahesh Kumar Gupta ◽  
Gursimran Kaur ◽  
Priti Jain ◽  
Rinkesh Kumar Bansal
Keyword(s):  
Gastric Mucosa ◽  
Squamous Epithelium ◽  
Narrow Band Imaging ◽  
Distal Esophagus ◽  
Heterotopic Gastric Mucosa ◽  
Retrosternal Pain ◽  
Gastric Type ◽  
History Of ◽  
Mass Lesions

Abstract Introduction Heterotopic gastric mucosa (HGM) in esophagus is commonly noted as an inlet patch at endoscopy. We describe a rare patient with symptomatic distal esophageal HGM. Case Report A 40-year-old male presented with retrosternal pain and marked odynophagia for the last 4 weeks without any history of ingestion of antibiotics, foreign body, or corrosive. Endoscopy showed abrupt circumferential transition to salmon pink mucosa at 35 cm from incisors. From 35 to 41 cm, there were areas of polypoid edematous thickening with few superficial ulcers of 1 to 3 mm. Squamous epithelium was visualized at narrow band imaging from 41 cm to the Z-line at 43 cm with no hiatus hernia. Biopsy showed gastric-type mucosa with parietal cells without dysplasia. Serology for cytomegalovirus and human immunodeficiency virus was negative. He was managed with proton pump inhibitors (PPIs) and prokinetics and improved symptomatically. Follow-up endoscopy at 3 months demonstrated healing of ulcers with persistence of HGM and pseudopolyps. He remains well on maintenance with PPI at 1-year follow-up. Conclusion Symptomatic HGM in distal esophagus is rare and can be differentiated from Barrett’s esophagus histologically and by presence of squamous epithelium between HGM and stomach. Inflammatory mass lesions may develop and mimic esophageal malignancy. Symptoms are largely due to acid production and usually respond to PPI.

scholarly journals Heterotopic gastric mucosa in the gallbladder—a rare find

2020 ◽  
Vol 2020 (12) ◽  
Author(s):  
Roberto Cunha ◽  
Rafaela Parreira ◽  
Rui Quintanilha ◽  
Vítor Carneiro ◽  
Armando Medeiros ◽  
...  
Keyword(s):  
Laparoscopic Cholecystectomy ◽  
Gastrointestinal Tract ◽  
Gastric Mucosa ◽  
Histological Change ◽  
Heterotopic Gastric Mucosa ◽  
Gallbladder Polyp ◽  
Usual Location ◽  
Common Situation

Abstract It is universally known and accepted that the development of a certain type of tissue outside its usual location, like in the gastrointestinal tract, can occur. This is a relatively common situation in the upper region of the gastrointestinal tract. However, the development of gastric mucosa in the gallbladder is a rare find. The following is the case of a 22-year-old male with an 18 mm gallbladder polyp, who electively underwent a laparoscopic cholecystectomy, having been diagnosed at a histopathological level with heterotopic gastric mucosa in the gallbladder. This brief article also aims to provide a reflection on the possible evolution of neoplasms from this histological change, based on the doubts raised in literature.

scholarly journals Rare presentation of annular and polypoid heterotopic gastric mucosa in duodenum

JGH Open ◽  
2020 ◽  
Author(s):  
Takayoshi Kiba ◽  
Naoki Kotoh ◽  
Masahiro Tsuboi
Keyword(s):  
Gastric Mucosa ◽  
Heterotopic Gastric Mucosa ◽  
Rare Presentation

Heterotopic gastric mucosa in the hilar bile duct mimicking hilar cholangiocarcinoma: report of a case

Surgery Today ◽  
2012 ◽  
Vol 43 (1) ◽  
pp. 91-95 ◽  
Author(s):  
Saburo Fukuda ◽  
Syoichiro Mukai ◽  
Seiichi Shimizu ◽  
Masatoshi Kouchi ◽  
Seiji Fujisaki ◽  
...  
Keyword(s):  
Bile Duct ◽  
Gastric Mucosa ◽  
Hilar Cholangiocarcinoma ◽  
Heterotopic Gastric Mucosa ◽  
Hilar Bile Duct

Prevalencia de mucosa gástrica heterotópica cervical y su relación con síntomas de reflujo gastroesofágico. Estudio observacional

2021 ◽  
Vol 51 (2) ◽  
Author(s):  
Natalia Marina Zeytuntsian ◽  
José Tawil ◽  
Ana Adet Caldelari ◽  
Álvaro Falzone ◽  
Patricio Sheridan ◽  
...  
Keyword(s):  
Gastric Mucosa ◽  
Clinical Manifestations ◽  
Heterotopic Gastric Mucosa ◽  
Extraesophageal Reflux ◽  
Cross Sectional ◽  
Reflux Symptoms ◽  
Throat Clearing ◽  
Extraesophageal Symptoms ◽  
The Mean ◽  
Upper Gastrointestinal

Introduction. The heterotopic gastric mucosal patch or inlet patch is the presence of gastric columnar mucosa outside the stomach, most frequently located in the proximal esophagus. Its manifestations vary from esophageal and extraesophageal reflux symptoms to major complications, most of them being asymptomatic. Aim. To determine the prevalence of cervical heterotopic gastric mucosa in our environment and its association with esophageal and extraesophageal reflux symptoms. Material and methods. Prospective cross-sectional and observational study; consecutive patients who came to our institution between December 2018 and October 2019 for diagnostic upper gastrointestinal videoendoscopy were included, following a questionnaire on clinical manifestations. Results. A total of 1,408 patients were included. In 89 (6.3%), a cervical heterotopic gastric mucosal patch was described. The mean age of the patients without this condition was 54.6 and 55.5 in patients with it. The esophageal symptoms of gastroesophageal reflux (heartburn, regurgitation, and chest pain) in patients with cervical heterotopic gastric mucosa was observed in 40 (44.9% / p = 0.473), 12 (13.5% / p = 0.783) and 4 (4.5% / p = 0.199) patients respectively. The presence of extraesophageal symptoms (globus, chronic cough, dysphonia, and throat clearing) in patients with cervical heterotopic gastric mucosa was: 9 (10.1% / p = 0.011); 7 (7.9% / p = 0.155); 4 (4.5% / p = 0.458) and 9 (10.1% / p = 0.036) respectively. Conclusions. A statistically significant association was found between the presence of cervical heterotopic gastric mucosal patch and symptoms of globus (p = 0.011) and throat clearing (p = 0.036). It could be interpreted that this group of patients would benefit from the research and treatment of this condition with the intention of improving their symptoms.

Heterotopic Gastric Mucosa of the Tongue and the Oesophagus

ORL ◽  
1975 ◽  
Vol 37 (4) ◽  
pp. 244-254 ◽  
Author(s):  
M. Mela ◽  
A. Ferlito
Keyword(s):  
Gastric Mucosa ◽  
Heterotopic Gastric Mucosa
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