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Keywords Gastrointestinal Polyposis Syn...

Gastrointestinal Polyposis Syndromes

https://read.qxmd.com/read/38516236/cronkhite-canada-syndrome-with-esophagus-involvement-and-six-year-follow-up-a-case-report
#1
Yu-Chen Tang
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...
February 28, 2024: World Journal of Gastroenterology: WJG
https://read.qxmd.com/read/38493229/progress-report-peutz-jeghers-syndrome
#2
REVIEW
Anne Marie Jelsig, John Gásdal Karstensen, Thomas V Overeem Hansen
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...
March 16, 2024: Familial Cancer
https://read.qxmd.com/read/38464780/cronkhite-canada-syndrome-an-atypical-presentation-with-subungual-hyperkeratosis
#3
Peerada Sermswan, Pravit Asawanonda, Nopadon Noppakun, Chanat Kumtornrut
No abstract text is available yet for this article.
March 2024: JAAD Case Reports
https://read.qxmd.com/read/38439724/muir-torre-syndrome-with-novel-mutation-in-the-msh2-gene
#4
Eda Ustaoglu, Senay Agirgol, Huri Sema Aymelek, Ezgi Isil Turhan
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...
December 2023: Acta Dermatovenerologica Croatica: ADC
https://read.qxmd.com/read/38389501/cellular-and-molecular-characteristics-of-stromal-lkb1-deficiency-induced-gastrointestinal-polyposis-based-on-single-cell-rna-sequencing
#5
JOURNAL ARTICLE
Zhaohua Cai, Yangjing Jiang, Huan Tong, Min Liang, Yijie Huang, Liang Fang, Feng Liang, Yunwen Hu, Xin Shi, Jian Wang, Zi Wang, Qingqi Ji, Huanhuan Huo, Linghong Shen, Ben He
Liver kinase B1 (Lkb1), encoded by serine/threonine kinase (Stk11), is a serine/threonine kinase and tumor suppressor that is strongly implicated in Peutz-Jeghers syndrome (PJS). Numerous studies have shown that mesenchymal-specific Lkb1 is sufficient for the development of PJS-like polyps in mice. However, the cellular origin and components of these Lkb1-associated polyps and underlying mechanisms remain elusive. In this study, we generated tamoxifen-inducible Lkb1flox/flox ;Myh11-Cre/ERT2 and Lkb1flox/flox ;PDGFRα-Cre/ERT2 mice, performed single-cell RNA sequencing (scRNA-seq) and imaging-based lineage tracing, and aimed to investigate the cellular complexity of gastrointestinal polyps associated with PJS...
February 23, 2024: Journal of Pathology
https://read.qxmd.com/read/38386255/multiple-duodenal-epithelial-tumors-in-a-patient-with-polymerase-proofreading-associated-polyposis-in-pole-variant
#6
JOURNAL ARTICLE
Hajime Miyazaki, Osamu Dohi, Eiko Maeda, Atsushi Tomioka, Naohisa Yoshida, Yukiko Morinaga, Yoshito Itoh, Hideki Ishikawa
Polymerase proofreading-associated polyposis (PPAP) is a rare disease with autosomal-dominant inheritance caused by germline variants in the POLE and POLD1 genes. PPAP has been reported to increase the risk of multiple cancers, including colon, duodenal, and endometrial cancers. Herein, we report a case in which multiple duodenal tumors led to the detection of a POLE mutation. A 43-year-old woman underwent esophagogastroduodenoscopy (EGD). Multiple duodenal tumors were detected, and all lesions were treated endoscopically...
February 22, 2024: Clinical Journal of Gastroenterology
https://read.qxmd.com/read/38303218/-a-rare-case-of-cronkhite-canada-syndrome-associated-with-gastric-cancer-and-gastric-outlet-obstruction
#7
JOURNAL ARTICLE
Toru Ishiguro, Aoi Sugino, Hiroyasu Ishikawa, Yu Muta, Tetsuya Ito, Azusa Yamamoto, Noriyasu Chika, Satoshi Hatano, Kumichika Uchida, Toshiro Ogura, Takatoshi Matsuyama, Yoichi Kumagai, Shigehisa Inokuma, Erito Mochiki, Hideyuki Ishida
Cronkhite-Canada syndrome(CCS)is a rare non-inherited disease characterized by gastrointestinal polyposis and ectodermal abnormalities. We report a rare case of CCS associated with gastric cancer and gastric outlet obstruction with a review of the literature. A 75-year-old man was admitted because of frequent vomiting and hypoproteinemia. He was diagnosed with CCS due to typical clinical and laboratory findings including alopecia, nail atrophy, hypoproteinemia, and typical gastrointestinal polyposis. Upper endoscopic examination also pointed out a large gastric cancer mainly located in the antrum and the reversible pyloric obstruction caused by the gastric tumor...
December 2023: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://read.qxmd.com/read/38297356/cronkhite%C3%A2-canada-syndrome-as-inflammatory-hamartomatous-polyposis-new-evidence-from-whole-transcriptome-sequencing-of-colonic-polyps
#8
JOURNAL ARTICLE
Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li, Ji Li
BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary disease characterized by diffuse gastrointestinal polyposis and ectodermal abnormalities. Although it has been proposed to be a chronic inflammatory condition, direct evidence of its pathogenesis is lacking. This study aims to investigate the pathophysiology of CCS by analyzing transcriptomic changes in the colonic microenvironment. METHODS: Next-generation sequencing-based genome-wide transcriptional profiling was performed on colonic hamartomatous polyps from four CCS patients and normal colonic mucosa from four healthy volunteers...
February 1, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38286305/pachydysostosis-of-the-fibula-in-a-case-of-familial-adenomatous-polyposis
#9
Daniela Oliveira, Sofia Maia, Inês Balacó, Paulo Coelho, Susana Almeida, Margarida Venâncio, Jorge Saraiva, Gen Nishimura, Sérgio B Sousa
BACKGROUND: Familial Adenomatous Polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome caused by germline APC mutations and characterised by an increased risk of CRC and colonic polyps and, in certain forms, of specific prominent extraintestinal manifestations, namely osteomas, soft tissue tumours and dental anomalies. Pachydysostosis of the fibula is a rare clinical entity defined by unilateral bowing of the distal portion of the fibula and elongation of the entire bone, without affectation of the tibia...
January 27, 2024: European Journal of Medical Genetics
https://read.qxmd.com/read/38280747/pathology-of-gastrointestinal-polyposis-disorders
#10
REVIEW
Christophe Rosty, Lodewijk A A Brosens
Gastrointestinal polyposis disorders are a group of syndromes defined by clinicopathologic features that include the predominant histologic type of colorectal polyp and specific inherited gene mutations. Adenomatous polyposis syndromes comprise the prototypical familial adenomatous polyposis syndrome and other recently identified genetic conditions inherited in a dominant or recessive manner. Serrated polyposis syndrome is defined by arbitrary clinical criteria. The diagnosis of hamartomatous polyposis syndromes can be suggested from the histologic characteristics of colorectal polyps and the association with various extraintestinal manifestations...
March 2024: Gastroenterology Clinics of North America
https://read.qxmd.com/read/38251433/endoscopy-in-pediatric-polyposis-syndromes-why-when-and-how
#11
JOURNAL ARTICLE
Shlomi Cohen, Warren Hyer, Thomas Attard
Single or multiple polyps are frequently encountered during colonoscopy among children and adolescents and may be indicative of hereditary polyposis syndrome (HPS). The management of children with single or multiple polyps is guided by the number of polyps, their distribution and the histological findings. Children with HPS carry a high risk of complications, including intestinal and extra-intestinal malignancies. The goals of surveillance in pediatric HPS are to treat symptoms, monitor the burden of polyps and prevent short- and long-term complications...
January 10, 2024: European Journal of Gastroenterology & Hepatology
https://read.qxmd.com/read/38196533/two-families-with-gastric-adenocarcinoma-and-proximal-polyposis-of-the-stomach-gapps-case-reports-and-literature-review
#12
Takashi Sakuma, Tomohiro Sera, Rika Aoyama, Akinari Sawada, Hiroaki Kasashima, Kana Ogisawa, Haruka Bamba, Masakazu Yashiro
BACKGROUND: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), a hereditary gastric polyposis syndrome that presents with fundic gastric polyposis, is associated with an increased risk of gastric adenocarcinoma. The four patterns of point mutation in the adenomatous polyposis coli ( APC ) promoter 1B region have been identified as the cause of GAPPS. GAPPS was first reported in 2012, and only 33 families with GAPPS have been reported worldwide to date. Therefore, the clinical management for GAPPS are still controversial...
December 31, 2023: Journal of Gastrointestinal Oncology
https://read.qxmd.com/read/38191939/juvenile-polyposis-syndrome-with-gastric-and-duodenal-polyposis-presenting-with-refractory-anemia-and-protein-leakage-gastroenteropathy-in-a-patient-with-smad4-mutation-a-case-report
#13
JOURNAL ARTICLE
Kenya Nakamura, Koji Kubota, Akira Shimizu, Tsuyoshi Notake, Tomohiko Ikehara, Kentaro Umemura, Atsushi Kamachi, Takamune Goto, Hidenori Tomida, Yoshiyuki Takahashi, Tadanobu Nagaya, Takeji Umemura, Yuji Soejima
BACKGROUND: Juvenile polyposis syndrome (JPS) is an autosomal dominant, inherited disorder characterized by multiple hyperproliferative polyps of the gastrointestinal tract, particularly of the colon, rectum, and stomach. SMAD4 mutations are frequently associated with multiple polyposis of the stomach; the condition causes severe bleeding and hypoproteinemia, which may progress to severe dysplasia and adenocarcinoma formation. We report our experience with the first case of total gastrectomy with pancreaticoduodenectomy following two partial jejunectomies for JPS, who presented with refractory anemia and protein-losing gastroenteropathy due to polyposis of the stomach and duodenum...
January 9, 2024: Surgical Case Reports
https://read.qxmd.com/read/38164364/advancements-in-endoscopic-management-of-small-bowel-polyps-in-peutz-jeghers-syndrome-and-familial-adenomatous-polyposis
#14
REVIEW
Yohei Funayama, Satoshi Shinozaki, Tomonori Yano, Hironori Yamamoto
Before the development of double-balloon enteroscopy (DBE), the standard management of small-bowel polyposis was surgical resection. This is an invasive procedure that could lead to short bowel syndrome. In the 21st century, several new enteroscopy techniques were distributed worldwide, including DBE, single-balloon enteroscopy, spiral enteroscopy, and motorized spiral enteroscopy. These devices enable the diagnoses and endoscopic interventions in the entire small bowel, even in patients with a history of laparotomy...
2024: Therapeutic Advances in Gastroenterology
https://read.qxmd.com/read/38146137/the-c-386a-c-p-asn129thr-variant-in-smad4-is-likely-to-be-pathogenic-causing-juvenile-polyposis-syndrome-a-case-report-of-a-mosaic-variant
#15
JOURNAL ARTICLE
Fátima Valentín, Alberto Herreros de Tejada, Emiliano Gonzaléz-Vioque, Natalia García-Simón, Antonio Sánchez, Atocha Romero
BACKGROUND: Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple hamartomatous gastrointestinal polyps. Here, we present a case of JPS with a mosaic variant in SMAD4. METHODS: Exome sequencing TRIO analysis, using germline DNA from the biological mother and father along with the index case (IC). RESULTS: A 46-year-old male with no family history of cancer presented with chronic iron deficiency anemia and was diagnosed with massive gastric polyposis (≥100 polyps)...
December 25, 2023: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38111781/comprehensive-treatment-and-a-rare-presentation-of-cronkhite-canada-syndrome-two-case-reports-and-review-of-literature
#16
Yan-Qing Lv, Mei-Lan Wang, Tong-Yu Tang, Yu-Qin Li
BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare sporadic polyposis syndrome that presents with gastrointestinal and ectodermal symptoms in addition to nutritional deficiencies. CCS combined with hypothyroidism is an even rarer condition, with no standard treatment guidelines. CASE SUMMARY: The present study described 2 patients with CCS: A 67-year-old woman with concomitant hypothyroidism and 68-year-old man treated with endoscopic mucosal resection (EMR)...
November 27, 2023: World Journal of Gastrointestinal Surgery
https://read.qxmd.com/read/38098584/a-case-report-of-cronkhite-canada-syndrome-first-encounterd-at-a-hospital-in-northern-vietnam
#17
Long Cong Nguyen, Thuy Thi Pham, Tung Thanh Nguyen, Nam Hoai Nguyen, Tuan Van Kieu, Giang Anh Do, Ha Thi-Ngoc Doan, Chuong Van Tran, Nhung Thi Vu
INTRODUCTION AND IMPORTANCE: Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited syndrome first described in 1955 with only about 500 more cases reported so far. Since the aetiology of the disease remains unknown, there were no specific treatments in consensus. In many countries, CCS is a completely new condition that may confuse physicians at first encounter. Lessons should be learned from these cases by gastrointestinal specialists to be aware of this condition in any circumstances...
December 2023: Annals of Medicine and Surgery
https://read.qxmd.com/read/38050626/chemoprevention-in-hereditary-digestive-neoplasia-a-comprehensive-review
#18
REVIEW
Eugénie Chevalier, Robert Benamouzig
Hereditary syndromes, such as familial adenomatous polyposis (FAP), MUTYH polyposis or Lynch syndrome, are particularly predisposing to the development of colorectal cancer. These situations have necessitated the development of adapted prevention strategies based largely on reinforced endoscopic surveillance and the search for complementary prevention strategies. This is the case for chemoprevention, which is the long-term administration of chemical agents limiting carcinogenesis, used as primary or secondary prophylaxis...
2023: Therapeutic Advances in Gastroenterology
https://read.qxmd.com/read/38043837/a-novel-apc-mutation-associated-with-gardner-syndrome-in-a-chinese-family
#19
JOURNAL ARTICLE
Ming Zeng, Xinchen Yao, Yuhua Pan, Hongxiang Gu, Fu Xiong, Xuemin Yin, Buling Wu, Ting Chen
Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province...
December 1, 2023: Gene
https://read.qxmd.com/read/37995714/-results-of-endoscopic-screening-and-therapy-of-the-duodenum-in-mutyh-associated-polyposis
#20
JOURNAL ARTICLE
Sonja Haas, Christian P Strassburg, Jacob Nattermann, Robert Hueneburg
MUTYH -associated polyposis (MAP) is a very rare autosomal recessive polyposis syndrome. It is caused by a homozygous or compound heterozygous germline mutation in the MUTYH gene. MAP is characterised by numerous colorectal adenomas; furthermore there is an increased risk for colorectal cancer (CRC). However, the phenotype can be highly variable; for example, affected individuals also have an increased risk of polyps of the upper gastrointestinal tract and development of duodenal carcinomas.This study included 15 patients with evidence of a pathogenic MUTYH variant, who were screened at the National Center for Hereditary Tumor Syndromes...
December 2023: Zentralblatt Für Chirurgie
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