Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation

We describe a family in which the proband (a 46-year old woman) had massive polyposis of the stomach —leading to surgery—with high-grade dysplasia at histology. Molecular analysis was carried out using Next Generation sequencing techniques with Miseq Illumina Platforms and a minimal coverage of 40 reads. In the proband, the analysis showed the presence of a truncating mutation in theSMAD4 gene (c.1213dupC, a variant previously associated with juvenile polyposis and Hereditary Hemorrhagic Teleangectasia). The same mutation was detected in two other members of the family (father and brother of the proband), who showed massive polypoid involvement of the stomach at gastroscopy. By taking the family history, subtle evidence of Hereditary Teleangectasia was found (nasal bleeding and arterovenous malformations) in the three gene carriers. Colonoscopy showed polyp occurrence in all three affected members withSMAD4 mutation, with prevalence of adenomatous lesions in one (father), of hamartomas in the brother, and of a mix of histological types in the proband. The main features of the family can be summarized as follows: (A) In hereditary juvenile polyposis, lesions of different histology can be detected at colonoscopy; (B) In the gene carriers ofSMAD4 mutations, lesions of the stomach require careful surveillance and, when necessary, surgical interventions; (C) Signs and symptoms of Hereditary Hemorrhagic Teleangectasia should be suspected (and searched) in individuals wi...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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This study was carried out in accordance with approval of the Melbourne Health and Walter and Eliza Hall Institute of Medical Research's Human Research Ethics Committee (approval number: 2013.081). All subjects gave written informed consent for participation and publication. Results and Discussion TGF-β signaling in NK cells is associated with: phosphorylation in SMAD2 and 3, inhibition of IL-15-induced metabolism/proliferation, simultaneous downregulation of CD44, CD49e, and Eomes, and upregulation of CD16 and CD49a expression (7, 10). SMAD family member 4 (SMAD4) belongs to the SMAD family of transcription...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Authors: Buzás GM Abstract The subject of Helicobacter pylori continues to elicit worldwide interest in many research fields. Epidemiological data suggest that the prevalence of the infection is decreasing in Western/developed countries and even in some developing regions, but this is masked by the high prevalence in the most populous regions. Chronic gastritis, caused invariably by the bacterium, was again classified in Kyoto and Helicobacter pylori-associated gastritis was included as a distinct entity. The prevalence of peptic ulcers is decreasing, but bleeding ulcers are a challenging problem, with stabl...
Source: Minerva Gastroenterologica e Dietologica - Category: Gastroenterology Tags: Minerva Gastroenterol Dietol Source Type: research
Kiss L, Papp J, Gecse K, Lakatos PL Abstract INTRODUCTION AND AIM: The aim was to assess the incidence of endoscopic findings based on the indication of the procedures in upper/lower endoscopies, and measuring quality indicators of colonoscopies at the 1st Department of Medicine, Semmelweis University, Budapest. METHOD: Data of 2987 patients (male/female:1361/1626, mean age: 60.7 years(y), SD: 16.7y) between 01.01.2010 and 31.12.2011 were analyzed. Both inpatient and outpatient records were collected. RESULTS: Incidence of peptic ulcer disease, esophageal varices, gastric polyps and gastric cancer were 1...
Source: Orvosi Hetilap - Category: Journals (General) Authors: Tags: Orv Hetil Source Type: research
Authors: Jelsig AM Abstract Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathologi...
Source: Danish Medical Journal - Category: Journals (General) Tags: Dan Med J Source Type: research
March is Colon Cancer Awareness Month, today’s TBT post provides some helpful information on colorectal cancer. Michelle was a healthy, active 47 year old. She tried to eat right and she exercised. It looked like the hard work was paying off: no health issues and lots of energy. Her work in the healthcare field motivated her to see her doctors regularly for checkups, to get mammograms and to have her blood work done annually. She knew she was getting close to the magical age of 50 and that soon she would need to get a colonoscopy to screen for colorectal cancer.  Since she had no family history of the disease sh...
Source: Disruptive Women in Health Care - Category: Consumer Health News Authors: Tags: Cancer TBT Source Type: blogs
The mortality rate of gastric cancer (GC) is close to the incidence rate worldwide. However, in Korea and Japan, the mortality rate of GC is less than half of the incidence rate. We hypothesized that good‐quality routine esophagogastroduodenoscopy (EGD) contributes to a high detection rate for early GC (EGC) and improves mortality in those countries. To clarify the differences in routine EGD, a questionnaire survey was conducted in 98 Japanese and 53 international institutions. Prevalence of screening examination among routine EGD was higher in Japanese than in international institutions. Japanese endoscopists noted that...
Source: Digestive Endoscopy - Category: Gastroenterology Authors: Tags: Supplement Article Source Type: research
Conclusion: MRC does not detect adenomas sufficiently independently of the location of the lesion. Even advanced lesions were missed. Therefore, colonoscopy should still be considered the current gold standard, even for diagnostic purposes. [...]© Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals:Table of contents  |  Abstract  |  open access Full text
Source: Endoscopy International Open - Category: Gastroenterology Authors: Tags: Original article Source Type: research
CONCLUSIONS: CagA positive H. pylori are virulent strains and the cagA IgG antibodies titer is associated with persistence of infection after treatment, upper gastroduodenal ulcers or gastric cancer. The presence of these antibodies, associated with positive biopsy for H. pylori, indicates the need of H. pylori treatment. PMID: 22570922 [PubMed - indexed for MEDLINE]
Source: Roumanian Archives of Microbiology and Immunology - Category: Microbiology Tags: Roum Arch Microbiol Immunol Source Type: research
CONCLUSION: BRAF inhibitors may increase the risk of developing hyperplastic gastric polyps and colonic adenomatous polyps. Due to the risk of gastrointestinal bleeding and the possibility of malignant transformation, further studies are needed to determine whether or not endoscopic surveillance should be recommended for patients treated with BRAF inhibitors. PMID: 26202952 [PubMed - as supplied by publisher]
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
Michelle was a healthy, active 47 year old. She tried to eat right and she exercised. It looked like the hard work was paying off: no health issues and lots of energy. Her work in the healthcare field motivated her to see her doctors regularly for checkups, to get mammograms and to have her blood work done annually. She knew she was getting close to the magical age of 50 and that soon she would need to get a colonoscopy to screen for colorectal cancer.  Since she had no family history of the disease she wasn’t worried. She felt certain that, just as all her previous testing had come back normal, this one would t...
Source: Disruptive Women in Health Care - Category: Consumer Health News Authors: Tags: Cancer Source Type: blogs
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