Gastrointestinal polyposis

A 35-year-old woman of Asian descent with epigastralgia was referred to our hospital. Esophagogastroduodenoscopy revealed gastric cancer in the upper body and carpeting fundic gland polyposis in the fornix and body. Computed tomography revealed no metastases. Total colonoscopy and capsule endoscopy revealed no polyposis, except in the stomach. The patient was diagnosed with advanced gastric cancer and underwent open total gastrectomy. We speculated that her gastric cancer was a hereditary tumor due to its early onset and accompanying fundic gland polyposis...

Constitutional loss of SMAD4 function results in Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia Overlap Syndrome (JP-HHT). A retrospective multi-centre case-note review identified 28 patients with a pathogenic SMAD4 variant from 13 families across all Scottish Clinical Genetics Centres. This provided a complete clinical picture of the Scottish JP-HHT cohort. Colonic polyps were identified in 87% (23/28) and gastric polyps in 67% (12/18) of screened patients. Complication rates were high: 43% (10/23) of patients with polyps required a colectomy and 42% (5/12) required a gastrectomy...

PURPOSE: Gastrointestinal tract (GIT) tumors in children are rare and there is a scarcity of data on their imaging features. The purpose of this study was to determine thefrequency of various GIT tumor types in children and to identify key imaging characteristics. METHODS: This retrospective, single-center study was approved by the local ethics committee. Children with histologically proven GIT tumours (malignantand benign) who had imaging available on the institutional PACS between May 1, 2000 and Dec 31, 2019 were included...

Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers increased colorectal cancer (CRC) risk. However, the etiology of SPS is not known. SSL-derived organoids have not been previously studied but may help provide insights into SPS pathogenesis and identify novel biomarkers and chemopreventive strategies. This study examined effects of EGFR and COX pathway inhibition in organoid cultures derived from uninvolved colon and polyps of SPS patients...

Cancer prevention in hereditary gastrointestinal predisposition syndromes relies primarily on intensive screening (e.g., colonoscopy) or prophylactic surgery (e.g., colectomy). The use of chemopreventive agents as an adjunct to these measures has long been studied both in the general population and in hereditary cancer patients, in whom the risk of malignancy, and therefore the potential risk reduction, is considerably greater. However, to date only few compounds have been found to be effective, safe, and tolerable for widespread use...

Cronkhite-Canada syndrome is a rare gastrointestinal polyposis syndrome with distinctive clinical features and endoscopic findings. Diagnosis can be challenging without suspicion, and the disease carries high mortality due to complications such as infection, gastrointestinal bleeding, and malignancies. This paper presents two cases of Cronkhite-Canada syndrome occurring after coronavirus disease 2019 (COVID-19) mRNA vaccination. Both cases exhibited typical clinical findings, including hypogeusia, onychodystrophy, alopecia, and weight loss...

A 70-year-old man presented to the clinic with a 6-month history of dysgeusia, followed by chronic, non-bloody diarrhea and 45 lb unintentional weight loss. Esophagogastroduodenoscopy discovered confluent nodularity in the gastric antrum and examined duodenum, but a normal esophagus. Colonoscopy uncovered patches of polypoid nodular mucosa throughout the entire colon. Biopsies of the nodular mucosa were consistent with hamartomatous polyps while biopsies of the intervening, normal-appearing mucosa demonstrated edema with crypt architectural distortion...

BACKGROUND: The role of capsule endoscopy in the evaluation of the small bowel is well established, and current guidelines position it as a first-line test in a variety of clinical scenarios. The advent of double-headed capsules further enabled the endoscopic assessment of colonic mucosa and the opportunity for a one-step noninvasive examination of the entire bowel (pan-enteric capsule endoscopy [PCE]). SUMMARY: We reviewed the technical procedure and preparation of patients for PCE, as well as its current clinical applications and future perspectives...

BACKGROUND: Ileal pouch-anal anastomosis (IPAA) is considered the preferred restorative surgical procedure for patients with ulcerative colitis and familial adenomatous polyposis requiring proctocolectomy. Unfortunately, postoperative leaks remain a complication with potentially significant ramifications. This study aimed to provide a comprehensive description of the evaluation, management, and outcomes of leaks after primary IPAA procedures. METHODS: Between 1995 and 2022, a total of 4058 primary IPAA procedures were performed at Cleveland Clinic...

Filiform polyposis (FP) is a morphologic variant of pseudopolyposis associated with inflammatory conditions of the gastrointestinal tract, namely, inflammatory bowel disease. Pediatric cases are uncommon in the literature. Here, we present a pediatric patient with FP arising from ulcerative colitis (UC). He initially presented at 7 years of age for an acute UC flare and was found to have classical pseudopolyposis. A follow-up colonoscopy at age 9 showed the evolution of classical pseudopolyposis to FP. The patient clinically improved with sulfasalazine monotherapy and remained in remission based on consistent pediatric ulcerative colitis activity index scores of zero and normal-range inflammatory markers...

To investigate the clinical and pathological characteristics of duodenal-type follicular lymphoma (D-FL), and to deepen the understanding of Duodenal-type follicular lymphoma. The clinical symptoms, endoscopic features, pathologic features, immunophenotype, molecular pathological features and treatment follow-up of 18 D-FL patients diagnosed in Department of Pathology, Beijing Tiantan Hospital affiliated to Capital Medical University between January 2020 and July 2023 were summarized. A total of 18 patients with D-FL were included, including 10 males and 8 females...

BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare, noninherited disease characterized by gastrointestinal polyposis with diarrhea and ectodermal abnormalities. CCS polyps are distributed through the whole digestive tract, and they are common in the stomach and colon but very uncommon in the esophagus. CASE SUMMARY: Here, we present a case of a 63-year-old man with skin hyperpigmentation accompanied by diarrhea, alopecia, and loss of his fingernails. Laboratory data indicated anemia, hypoalbuminemia, hypocalcemia, hypokalemia, and positive fecal occult blood...

Peutz-Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype including development of characteristic gastrointestinal polyps, mucocutaneous pigmentations, and an increased risk of cancer, the syndrome has been subject to many studies concerning the natural course of disease. In most patients, pathogenic germline variants are detected in the STK11 gene including cases of mosaicism and structural variants. Yet, studies assessing the effect of surveillance, understanding of cancer development, as well as clinical studies evaluating chemoprevention are lacking...

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No abstract text is available yet for this article.

INTRODUCTION: Over 90% of the patients with familial adenomatous polyposis (FAP) will develop duodenal adenomas. AIM: The aim of this study was to evaluate the effectiveness and safety of endoscopic excision of large duodenal adenomas in FAP patients. METHODS: All FAP patients from a familial risk clinic submitted to endoscopic therapy for duodenal adenomas ≥10 mm between January 2010 and February 2021 were included. RESULTS: From 151 FAP families, 22 patients (50 lesions) were included: 54...

No abstract text is available yet for this article.

Muir-Torre syndrome (MST) is a rare autosomal dominant subtype of hereditary non-polyposis colorectal carcinoma. The diagnosis is established based on the coexistence of sebaceous gland tumors and visceral organ malignancies. Mutations in the mismatch repair genes are responsible for Muir-Torre syndrome. Internal malignancies seen in MTS are most commonly colorectal, gastrointestinal system, endometrial, genitourinary system, breast, lung, brain, and hepatobiliary system malignancies. Detection of sebaceous neoplasia is essential in investigating Muir-Torre syndrome, allowing early detection of internal malignancies...

BACKGROUND: Ileal pouch-anal anastomosis is often required for patients with ulcerative colitis or familial adenomatous polyposis after colectomy. This procedure reduces but does not completely eliminate the risk of neoplasia. OBJECTIVE: This study focuses on the histopathology of neoplasia in the ileal pouch, rectal cuff, and anal transition zone. DATA SOURCES: We performed a Medline search for English language studies published between 1981 and 2022 using the PubMed search engine...

BACKGROUND: The incidence of early-onset colorectal cancer (EOCRC; diagnosed <50 years of age) is rising globally; however, the causes underlying this trend are largely unknown. Colorectal cancer (CRC) has strong genetic and environmental determinants, yet common genetic variants and causal modifiable risk factors underlying EOCRC are unknown. We conducted the first EOCRC-specific genome-wide association study (GWAS) and Mendelian randomization analyses to explore germline genetic and causal modifiable risk factors associated with EOCRC...