Browse
Submit Data
Databases
API
Help

Dataset Information

19 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Familial Adenomatous Polyposis with Multiple Helicobacter-negative Early Gastric Cancers Treated by Endoscopic Submucosal Dissection.

ABSTRACT: Stomach cancer rarely develops in patients with familial adenomatous polyposis (FAP), and Helicobacter pylori infection may increase the risk of FAP-related gastric cancer. We describe the case of a 64-year-old woman who developed multiple synchronous early gastric cancers without H. pylori infection. Nine cancer lesions were successfully treated by endoscopic submucosal dissection. An immunohistochemical analysis revealed that the tumors were positive for mucin (MUC)2, MUC6, and CDX2, but negative for MUC5AC, suggesting that the tumors were gastrointestinal mixed type. Periodical endoscopic surveillance is important for the detection of cancers at an early stage.

SUBMITTER: Yaguchi K

PROVIDER: S-EPMC5790714 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Familial Adenomatous Polyposis with Multiple Helicobacter-negative Early Gastric Cancers Treated by Endoscopic Submucosal Dissection.

Yaguchi Katsuki K Makazu Makomo M Hirasawa Kingo K Sugimori Makoto M Kobayashi Ryosuke R Sato Chiko C Ikeda Ryosuke R Fukuchi Takehide T Ishii Yasuaki Y Kaneko Hiroaki H Shibata Wataru W Yamanaka Shoji S Inayama Yoshiaki Y Maeda Shin S

Internal medicine (Tokyo, Japan) 20171011 24

Stomach cancer rarely develops in patients with familial adenomatous polyposis (FAP), and Helicobacter pylori infection may increase the risk of FAP-related gastric cancer. We describe the case of a 64-year-old woman who developed multiple synchronous early gastric cancers without H. pylori infection. Nine cancer lesions were successfully treated by endoscopic submucosal dissection. An immunohistochemical analysis revealed that the tumors were positive for mucin (MUC)2, MUC6, and CDX2, but negat ...[more]

PMID: 29021452

Similar Datasets

Helicobacter pylori-negative intestinal-type gastric adenoma successfully treated by endoscopic submucosal dissection: a case report.

Project description:A 49-year-old woman underwent an esophagogastroduodenoscopy as part of a health check at our hospital. Endoscopic observation revealed a flat elevated lesion 6 mm in diameter in the gastric antrum (Paris Classification type IIa). Magnifying endoscopy using narrow-band imaging showed a slightly irregular micro-surface pattern with round and oval pits, as well as a regular micro-vascular pattern without a demarcation line. Atrophy and intestinal metaplasia were not recognized in the background gastric mucosa. Furthermore, Helicobacter pylori infection was not detected by histologic, serologic, and urea breath test results. Endoscopic resection was performed for histologic evaluation, and a pathologic diagnosis of intestinal-type gastric adenoma occurring in pyloric mucosa without atrophy or metaplasia was established. Immunohistochemistry findings of the lesion showed the intestinal epithelium phenotype with positive staining for MUC2, CD10, and CDX2. Furthermore, irregular distribution with a higher positive proportion of Ki-67 was found in the lesion, indicating its malignant potential. We report here a rare case of gastric adenoma without surrounding intestinal metaplasia occurring in a Helicobacter pylori-negative patient.

| S-EPMC5025316 | biostudies-other

Gastric adenomas and their management in familial adenomatous polyposis.

Project description:BackgroundPatients with familial adenomatous polyposis (FAP) are at increased risk of developing gastric adenomas. There is limited understanding of their clinical course and no consensus on management. We reviewed the management of gastric adenomas in patients with FAP from two centers.MethodsPatients with FAP and histologically confirmed gastric adenomas were identified between 1997 and 2018. Patient demographics, adenoma characteristics, and management/surveillance outcomes were collected.ResultsOf 726 patients with FAP, 104 (14 %; 49 female) were diagnosed with gastric adenomas at a median age of 47 years (range 19 - 80). The median size of gastric adenomas was 6 mm (range 1.5 - 50); 64 (62 %) patients had adenomas located distally to the incisura. Five patients (5 %) had gastric adenomas demonstrating high-grade dysplasia (HGD) on initial diagnosis, distributed equally within the stomach. The risk of HGD was associated with adenoma size (P = 0.04). Of adenomas > 20 mm, 33 % contained HGD. Two patients had gastric cancer at initial gastric adenoma diagnosis. A total of 63 patients (61 %) underwent endoscopic therapy for gastric adenomas. Complications occurred in three patients (5 %) and two (3 %) had recurrence, all following piecemeal resection of large (30 - 50 mm) lesions. Three patients were diagnosed with gastric cancer at median follow-up of 66 months (range 66 - 115) after initial diagnosis.ConclusionsWe observed gastric adenomas in 14 % of patients with FAP. Of these, 5 % contained HGD; risk of HGD correlated with adenoma size. Endoscopic resection was feasible, with few complications and low recurrence rates, but did not completely eliminate the cancer risk.

| S-EPMC8315898 | biostudies-literature

Clinicopathological Features of Advanced Gastric Cancers which Were Misjudged and Subjected to Endoscopic Submucosal Dissection.

Project description:Background and Aims:Endoscopic submucosal dissection (ESD) is widely performed for early gastric cancer (EGC). We have sometimes encountered gastric cancer lesions for which ESD was performed and at which pathologically advanced cancer was found. In this study, we performed clinicopathological examination of lesions whose endoscopic diagnosis and pathology differed substantially. Methods:ESD was performed for 2,194 gastric cancer lesions (1,753 cases) in our institute from April 2005 through March 2015. The vertical margin was positive or status unknown in 51 lesions (2.3%); among these, muscularis propria (MP) or deeper infiltration was identified in 6 lesions from specimens obtained during subsequent surgery. In 1 lesion with MP invasion, the vertical margin was negative. We evaluated the clinicopathological features of these 7 lesions and retrospectively reviewed endoscopic indicators of submucosal invasion for EGC on white light imaging (WLI), narrow-band imaging magnifying endoscopy (NBI-ME), and endoscopic ultrasonography (EUS) performed previously. Results:Average age was 73.2 ± 7.2 years, and all cases were men. The 7 lesions diagnosed as advanced cancer were 0.32% of 2,194 lesions and were all located in the U region (fundus). On retrospective review of endoscopic findings, 2 of 7 lesions on WBI, 3 of 6 lesions on NBI-ME, and 2 of 5 lesions on EUS met the criteria for indicating submucosal invasion of EGC. No lesions had findings on all 3 modalities. Conclusion:In rare cases, advanced gastric cancer could not be accurately diagnosed by endoscopy using various modalities. Each case had special characteristics making identification of deep infiltration difficult.

| S-EPMC7071798 | biostudies-literature

Endoscopic Submucosal Dissection of Papillary Gastric Adenocarcinoma; Systematic Review.

Project description:This study evaluated the possibility of endoscopic submucosal dissection (ESD) for early gastric cancer with papillary adenocarcinoma (EGC-PAC). PAC, an uncommon pathologic type of stomach cancer, is classified into differentiated-type histology. However, aggressive features, including a high rate of submucosal invasion, lymphovascular invasion (LVI), and lymph node metastasis (LNM), have been reported in studies with surgical specimens. Treatment outcomes of ESD for EGC-PAC have not been precisely demonstrated. Core databases were sought for the following inclusion criteria: studies of endoscopic resection or surgery of EGC-PAC presenting the following therapeutic indicators; en bloc resection, complete resection, curative resection, recurrence, complications associated with procedures, LVI, or LNM that enabled an analysis of ESD possibility. Overall, 15 studies were included for systematic review. Frequent submucosal invasion and high LVI were noted in EGC-PAC. However, PAC was not significantly associated with LNM. Pooled en bloc resection, complete resection, and curative resection rates were 89.7% (95% confidence interval: 55.3%-98.4%), 85.3% (67.7%-94.2%), and 67% (43%-84.5%), respectively. No LNM was observed if EGC-PAC satisfied the curative resection criteria. ESD seems technically feasible, although a high LVI rate results in a lower rate of curative resection.

| S-EPMC7290846 | biostudies-literature

Usefulness of a multibending endoscope in gastric endoscopic submucosal dissection.

Project description:Background and aimsIntraoperative perforation is a major adverse event of endoscopic submucosal dissection (ESD). To avoid perforation, it is important for the endoscope to approach the portion to be resected carefully and to ensure that the knife can approach the submucosa at an angle parallel to the muscle layer. The multibending endoscope has 2 bends at its tip and may facilitate the ESD procedure. To the best of our knowledge, very few studies have reported the use of the multibending endoscope during gastric ESD. The aim of this study was, therefore, to introduce the usefulness of the multibending endoscope for gastric ESD.MethodsWe report 2 cases of early gastric cancer in which ESD was performed using a multibending endoscope.ResultsUnlike conventional single-bending endoscopes that have only 1 moveable part, the multibending endoscope allowed difficult areas to be approached more easily. Small adjustments could be made to the upward or downward angle of both the first and the second bending sections of the endoscope. This ensured that the knife would approach the submucosa at an angle parallel to the muscle layer. In patient 1, initially the conventional endoscope was used, but it became more difficult to approach the site, and paradoxic movement occurred. When the conventional endoscope was changed to the multibending endoscope, the ESD procedure became safer and more efficient. Another ESD using the multibending endoscope was performed successfully without any adverse events.ConclusionsThe use of a multibending endoscope for ESD will enable safer and faster treatment of patients.

| S-EPMC6895728 | biostudies-literature

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Project description:BACKGROUND Familial adenomatous polyposis (FAP), which has a very high tendency of progression to colorectal cancer, is mainly caused by mutations of the adenomatous polyposis coli (APC) gene. This study systematically screened the APC mutations and observed the correlation of APC mutations with clinical manifestations of FAP. MATERIAL AND METHODS Eighty subjects (probands and their family members of 22 FAP pedigrees) were enrolled, underwent abdominal ultrasound, computed tomography, and colonoscopic examinations, and were assessed for APC mutations between January 2010 and June 2015 at Tianjin Union Medical Center. Peripheral blood was collected from subjects, and DNA was extracted and screened for APC mutations using multiplex ligation-dependent probe amplification for large-fragment deletions or PCR-denaturing high-performance liquid chromatography with DNA sequencing for micromutations. RESULTS Nineteen of 22 FAP pedigrees were found to have mutations of APC, and 17 types APC mutations were identified. All the mutations were heterozygosity with autosomal dominant inheritance. APC mutations included 8 caused by frameshift, 3 by aberrant splicing, 2 by missense mutation, 2 by nonsense mutation, and 2 by large-fragment deletion. Frameshift mutation was the most common type of APC mutation, and Coding DNA Sequence 15 was the most common mutation site. Five novel APC mutations, including 1 with large-fragment deletion, were identified. CONCLUSIONS We systematically screened 17 mutations of APC from 22 Chinese pedigrees with FAP. This study will broaden the spectrum of known APC germline mutations and help understand the types and distribution of APC mutations among Chinese patients with FAP.

| S-EPMC6542301 | biostudies-literature

Clinical outcomes of early gastric cardiac cancer treated with endoscopic submucosal dissection in patients with different indications.

Project description:BackgroundEndoscopic submucosal dissection (ESD) has been accepted as a standard treatment for early gastric cardiac cancer (EGCC). Here, we investigate the clinical outcomes of the EGCC patients who underwent ESD in different indications.MethodsFrom January 2011 to October 2019, we enrolled 502 EGCC lesions from 495 patients which were resected by ESD at our center. We retrospectively analyzed the short-term and long-term clinical outcomes among different indication groups.ResultsThe number of the patients in the absolute indication (AI), expanded indication (EI) and beyond the expanded indication (BEI) groups was 265, 137 and 93, respectively. The en bloc resection rate was 100%, 100% and 98.9% (P = 0.185). The complete resection rate was 99.3%, 98.5% and 74.5%, respectively (P < 0.001). During a median follow-up of 48.1 months, the lymph node metastasis rate was 0%, 0% and 2.3% (P < 0.001). The distant metastasis rate was 0.4%, 0% and 2.3% (P = 0.150). The five-year disease-specific survival rate in the BEI group was 96.6% (P = 0.016), compared to 99.6% in the AI group and 100% in the EI group.ConclusionThe efficacy for ESD patients in EI group was almost equal to the AI group. Patients in the BEI group showed generally favorable clinical outcomes and needed to be carefully checked after ESD. ESD may be an optional treatment for patients unsuitable for gastrectomy.

| S-EPMC7953789 | biostudies-literature

Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes.

Project description:There have been significant advances in our knowledge about the molecular changes that precede and accompany the development of inherited predispositions to colorectal cancer. In this review the clinical relationship to the molecular changes associated with the polyposis syndromes is presented. The aim is to put into context the diverse findings that have been shown to be associated with the development of colorectal cancer in persons who harbor a predisposition to develop disease at unusually early ages. The main focus will be on familial adenomatous polyposis as it serves as a model disease and is the most extensively studied of all of the polyposis syndromes. In addition some information is provided that explains the relationship between a germline change in one gene and what consequences that can have for a particular cell and the development of disease.

| S-EPMC2840009 | biostudies-other

Familial adenomatous polyposis of the colon.

Project description:Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant predisposition to the development of polyposis in the colon and rectum at unusually early ages. The first symptoms of FAP are diarrhea and blood in the stool. Weight loss and weaknesses occur after the development of advanced tumour. The incidence of the FAP disorder is one per 10000 newborns. There are high levels of heterogeneity with regard to the number and timing of the occurrence of polyps. The classical form of FAP is characterized by the presence of more than 100 polyps, which appear in the second decade of life. The average time of occurrence of polyps is 15 years. The earliest symptoms of polyposis have been observed in a three-year-old child. The polyps are characterized by large potential for the development towards malignant tumour. Malignancy can occur from late childhood onwards. Attenuated adenomatous polyposis coli is characterized by a more benign course of disease in contrast to classical FAP. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. The APC gene is located on chromosome 5q21 and is involved in cell proliferation control. A recessive form of adenomatous polyposis is caused by mutations in the base excision repair gene - MUTYH gene. The MUTYH gene is involved in repairing DNA lesions as a result of oxidative DNA damage. MUTYH associated polyposis (MAP) is a predisposition to the development of polyps of the colon but the number of polyps is lower in comparison to classical FAP. The high risks of cancer observed in these two diseases make them important medical issues. Molecular studies of colonic polyposis have been performed in Poland for over fifteen years. A DNA Bank for Polish FAP patients was established at the Institute of Human Genetics in Poznan in which DNA samples from 600 FAP families have been collected.

| S-EPMC3843547 | biostudies-literature

Risk factor-based optimal endoscopic surveillance intervals after endoscopic submucosal dissection for gastric adenoma.

Project description:To date, there exists no established endoscopic surveillance interval strategy after endoscopic submucosal dissection (ESD) for gastric adenoma. In this study, we suggest a risk factor-based statistical model for optimal surveillance intervals for gastric adenoma after ESD with curative resection. A cox proportional hazard model was applied to identify risk factors for recurrence after ESD. Patients (n = 698) were categorized into groups based on the identified risk factors. The cumulative density of recurrence over time was computed using a cubic splined baseline hazard function, and the customized surveillance interval was modeled for each risk group. The overall cumulative incidence of recurrence was 7.3% (n = 51). Risk factors associated with recurrence were male (hazard ratio [HR], 2.60, P = 0.030), protruded scar (HR, 3.18, P < 0.001), and age ≥ 59 years (HR, 1.05, P < 0.001). The surveillance interval for each group was developed by using the recurrence limit for the generated risk groups. According to the developed schedule, high-risk patients would have a maximum of seven surveillance visits for 5 years, whereas low-risk patients would have biennial surveillance for cancer screening. We proposed a simple and promising strategy for determining a better endoscopic surveillance interval by parameterizing diverse and group-specific recurrence risk factors into a well-known survival model.

| S-EPMC8560818 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data