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Polyposis colon

Monika Raab, Mourad Sanhaji, Yves Matthess, Albrecht Hörlin, Ioana Lorenz, Christina Dötsch, Nils Habbe, Oliver Waidmann, Elisabeth Kurunci-Csacsko, Ron Firestein, Sven Becker, Klaus Strebhardt
The spindle assembly checkpoint (SAC) acts as a molecular safeguard in ensuring faithful chromosome transmission during mitosis, which is regulated by a complex interplay between phosphatases and kinases including PLK1. Adenomatous polyposis coli (APC) germline mutations cause aneuploidy and are responsible for familial adenomatous polyposis (FAP). Here we study the role of PLK1 in colon cancer cells with chromosomal instability promoted by APC truncation (APC-ΔC). The expression of APC-ΔC in colon cells reduces the accumulation of mitotic cells upon PLK1 inhibition, accelerates mitotic exit and increases the survival of cells with enhanced chromosomal abnormalities...
March 16, 2018: Nature Communications
Juan M Marqués-Lespier, Marievelisse Soto-Salgado, María González-Pons, Vanessa Méndez, Katerina Freyre, Carlos Beltrán, Luis R Pericchi, Marcia Cruz-Correa
OBJECTIVE: Colorectal cancer (CRC) is a leading causes of cancer death among men and women. The purpose of this study was to determine the prevalence of oligopolyposis (≥20 synchronous colorectal adenomas) and its associated clinicopathological characteristics in Hispanics with incident CRC. METHODS: Pathology reports from individuals diagnosed with CRC (2007 to 2011) were obtained from the PR Central Cancer Registry. Colorectal polyp burden was calculated using pathology reports and the data was normalized to colon segment size...
2018: Puerto Rico Health Sciences Journal
Mikaell Alexandre Gouvea Faria, Bruna Basaglia, Vinicius Quintiliano Moutinho Nogueira, Tatiana Barros Gama Ferraz de Mendonca, Roberto Luiz Kaiser Junior, Idiberto Jose Zotarelli Filho, Luiz Gustavo de Quadros
The Cronkhite-Canada syndrome (CCS) was first reported in 1955, since then more than 500 cases have been reported, indicating an estimated incidence of one case per 1 million inhabitants. The syndrome occurs predominantly in male, with a ratio of three males to two females. Because of the rarity of the syndrome, there are no evidence-based therapies and the treatments described include a combination of therapies, but none is consistently effective. Surgery is usually reserved for the treatment of complications...
February 2018: Gastroenterology Research
Danielle P Thurtle, Michael B Huck, Kristen A Zeller, Tamison Jewett
BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon...
March 4, 2018: Journal of Medical Case Reports
Bini Mathew, Judith V Hobrath, Michele C Connelly, R Kiplin Guy, Robert C Reynolds
Background: Sulindac belongs to the chemically diverse family of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) that effectively prevent adenomatous colorectal polyps and colon cancer, especially in patients with familial adenomatous polyposis. Sulindac sulfide amide (SSA), an amide analog of sulindac sulfide, shows insignificant COX-related activity and toxicity while enhancing anticancer activity in vitro and demonstrating in vivo xenograft activity. Objective: Develop structure-activity relationships in the sulindac amine series and identify analogs with promising anticancer activities...
2018: Open Medicinal Chemistry Journal
Sofia Lopes, Julia Vide, Elisabete Moreira, Filomena Azevedo
Cowden syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomas in several organs and an increased risk of malignancies. We present the case of a 53-year-old man with a history of benign and malignant thyroid disease, intestinal polyposis, and Chiari malformation. He had several trichilemmomas, papillomatosis of the oral cavity, macular pigmentation of the glans penis, among other clinical features suggestive of Cowden syndrome. Given the suspicion, genetic study was conducted and PTEN mutation was identified...
August 15, 2017: Dermatology Online Journal
Faraz Bishehsari, Phillip A Engen, Nailliw Z Preite, Yunus E Tuncil, Ankur Naqib, Maliha Shaikh, Marco Rossi, Sherry Wilber, Stefan J Green, Bruce R Hamaker, Khashayarsha Khazaie, Robin M Voigt, Christopher B Forsyth, Ali Keshavarzian
Epidemiological studies propose a protective role for dietary fiber in colon cancer (CRC). One possible mechanism of fiber is its fermentation property in the gut and ability to change microbiota composition and function. Here, we investigate the role of a dietary fiber mixture in polyposis and elucidate potential mechanisms using TS4Cre×cAPCl °x468 mice. Stool microbiota profiling was performed, while functional prediction was done using PICRUSt. Stool short-chain fatty acid (SCFA) metabolites were measured...
February 16, 2018: Genes
Carlo Arévalo, Natalia Chunga, Steven Alarcón, Omar Rodríguez, Fernando Arévalo, Pedro Montes, Eduardo Monge
OBJECTIVE: To determine whether localization and size are related to the presence of high-grade dysplasia of colon adenomas in patients of a Peruvian hospital. MATERIALS AND METHODS: This is a descriptive transversal study. We checked colonoscopyreports of 2014-2015 years of Hospital Daniel Alcides Carrion, we included the polyps found in patients older than 18 years old, and excluded reports from patients with colorectal cancer, an antecedent of oncological surgery, inflammatory bowel disease and polyposis (6 or more)...
October 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
(no author information available yet)
Colonic biofilms may accelerate tumorigenesis in patients with familial adenomatous polyposis (FAP).
February 9, 2018: Cancer Discovery
Nitin Telang
Mutations in the adenomatous polyposis coli (Apc) tumor suppressor gene represent the primary genetic defect in colon carcinogenesis. Apc+/- mouse models exhibit pre-invasive small intestinal adenomas. Cell culture models exhibiting Apc defects in the colon and quantifiable cancer risk provide a novel clinically relevant approach. The tumor-derived Apc-/- colonic epithelial cell line 1638N COL-Pr1 represented the experimental model. The anti-inflammatory drugs sulindac (SUL) and celecoxib (CLX) represented the test compounds...
January 2018: Oncology Letters
N Jewel Samadder, Scott K Kuwada, Kenneth M Boucher, Kathryn Byrne, Priyanka Kanth, Wade Samowitz, David Jones, Sean V Tavtigian, Michelle Westover, Therese Berry, Kory Jasperson, Lisa Pappas, Laurel Smith, Danielle Sample, Randall W Burt, Deborah W Neklason
Importance: Patients with familial adenomatous polyposis (FAP) are at markedly increased risk for colorectal polyps and cancer. A combination of sulindac and erlotinib led to a 71% reduction in duodenal polyp burden in a phase 2 trial. Objective: To evaluate effect of sulindac and erlotinib on colorectal adenoma regression in patients with FAP. Design, Setting, and Participants: Prespecified secondary analysis for colorectal adenoma regression was carried out using data from a double-blind, randomized, placebo-controlled trial, enrolling 92 patients with FAP, conducted from July 2010 to June 2014 in Salt Lake City, Utah...
February 8, 2018: JAMA Oncology
Christine M Dejea, Payam Fathi, John M Craig, Annemarie Boleij, Rahwa Taddese, Abby L Geis, Xinqun Wu, Christina E DeStefano Shields, Elizabeth M Hechenbleikner, David L Huso, Robert A Anders, Francis M Giardiello, Elizabeth C Wick, Hao Wang, Shaoguang Wu, Drew M Pardoll, Franck Housseau, Cynthia L Sears
Individuals with sporadic colorectal cancer (CRC) frequently harbor abnormalities in the composition of the gut microbiome; however, the microbiota associated with precancerous lesions in hereditary CRC remains largely unknown. We studied colonic mucosa of patients with familial adenomatous polyposis (FAP), who develop benign precursor lesions (polyps) early in life. We identified patchy bacterial biofilms composed predominately of Escherichia coli and Bacteroides fragilis Genes for colibactin ( clbB ) and Bacteroides fragilis toxin ( bft ), encoding secreted oncotoxins, were highly enriched in FAP patients' colonic mucosa compared to healthy individuals...
February 2, 2018: Science
G A Yanus, T A Akhapkina, A O Ivantsov, E V Preobrazhenskaya, S N Aleksakhina, I V Bizin, A P Sokolenko, N V Mitiushkina, E Sh Kuligina, E N Suspitsin, A R Venina, M M Holmatov, O A Zaitseva, O S Yatsuk, D V Pashkov, A M Belyaev, A V Togo, E N Imyanitov, A G Iyevleva
Distribution of cancer-predisposing mutations demonstrates significant interethnic variations. This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with 2 known mutational hotspots (p.E1309Dfs*4 [n = 5] and p.Q1062fs* [n = 3]), while 6/26 (23%) mutations were novel (p.K73Nfs*6, p.S254Hfs*12, p.S1072Kfs*9, p.E1547Kfs*11, p...
February 6, 2018: Clinical Genetics
Ryohei Takei, Ichiro Onishi, Ryosuke Zaimoku, Naoki Makita, Yasumichi Yagi, Masato Kayahara
BACKGROUND Primary small bowel cancer is a rare malignancy; the common histopathological types are carcinoid and adenocarcinoma. Inflammatory bowel diseases and familial adenomatous polyposis are known risk factors for small bowel cancer. Additionally, cases of surgery-induced small bowel adenocarcinoma are sometimes reported after ileostomy. CASE REPORT A 84-year-old woman, who had undergone ileotransversostomy for intestinal obstruction due to postoperative adhesion following appendectomy at the age of 31 years, was referred to our hospital for further examination after experiencing abdominal pain in the right lower quadrant for 2 weeks...
February 6, 2018: American Journal of Case Reports
Hyun Young Kim
AIMS: Serrated polyposis syndrome is a disease that is often missed in the clinical setting and is associated with colorectal cancer. We investigated the prevalence of SPS and the association between colorectal or other cancers in a 10-year, retrospective data analysis. METHODS: We reviewed complete colonoscopy data obtained from January 2005 through January 2015 at a health-screening centre. Serrated polyposis syndrome was defined on the basis of the criteria established by the 2010 World Health Organization...
January 20, 2018: Balkan Medical Journal
Constantin Bălăeţ, Bogdan Ioan Coculescu, Gheorghe Manole, Maria Bălăeţ, Gabi Valeriu Dincă
The gamma-glutamyltransferase (GGT) is recognized in medical practice as a useful indicator for the detection of liver lesions, especially those induced by the excessive consumption of alcoholic or cholesterol-associated drinks. The present study, although it includes a very small number of cases diagnosed with colon diverticulosis-diverticulitis associated with polyposis at the same intestinal level, identifies the presence of increased circulating concentrations of this enzyme in the serum. Its serum levels are tracked "dynamically" throughout a year after the diagnosis and start of the therapy...
December 2018: Journal of Enzyme Inhibition and Medicinal Chemistry
Astrid Tenden Stormorken, Thomas Berg, Ole-Jacob Norum, Toto Hølmebakk, Kristin Aaberg, Sonja E Steigen, Eli Marie Grindedal
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations...
January 24, 2018: Familial Cancer
Michele Ciavarella, Sara Miccoli, Anna Prossomariti, Tommaso Pippucci, Elena Bonora, Francesco Buscherini, Flavia Palombo, Roberta Zuntini, Tiziana Balbi, Claudio Ceccarelli, Franco Bazzoli, Luigi Ricciardiello, Daniela Turchetti, Giulia Piazzi
Germline variants in the APC gene cause familial adenomatous polyposis. Inherited variants in MutYH, POLE, POLD1, NTHL1, and MSH3 genes and somatic APC mosaicism have been reported as alternative causes of polyposis. However, ~30-50% of cases of polyposis remain genetically unsolved. Thus, the aim of this study was to investigate the genetic causes of unexplained adenomatous polyposis. Eight sporadic cases with >20 adenomatous polyps by 35 years of age or >50 adenomatous polyps by 55 years of age, and no causative germline variants in APC and/or MutYH, were enrolled from a cohort of 56 subjects with adenomatous colorectal polyposis...
January 24, 2018: European Journal of Human Genetics: EJHG
Thad Wilkins, Danielle McMechan, Asif Talukder, Alan Herline
Individuals at increased risk of developing colorectal cancer include those with a personal or family history of advanced adenomas or colorectal cancer, a personal history of inflammatory bowel disease, or genetic polyposis syndromes. In general, these persons should undergo more frequent or earlier testing than individuals at average risk. Individuals who have a first-degree relative with colorectal cancer or advanced adenoma diagnosed before 60 years of age or two first-degree relatives diagnosed at any age should be advised to start screening colonoscopy at 40 years of age or 10 years younger than the earliest diagnosis in their family, whichever comes first...
January 15, 2018: American Family Physician
Liyun Niu, Junling Zhang, Tianye Liu, Tao Wu, Weiguo Chen, Yong Jiang, Yingchao Wu, Pengyuan Wang, Yisheng Pan, Xin Wang
OBJECTIVE: To investigate the clinicopathological features and prognosis of colorectal synchronous multiple primary cancer(SMPC). METHODS: From January 2008 to June 2011, 51 patients diagnosed with colorectal SMPC underwent surgery at Department of General Surgery of Peking University First Hospital. Their clinicopathological features, diagnosis, treatment and prognosis were summarized and analyzed. SMPC was diagnosed according to the following criteria: each tumor must have a definite pathologic picture of malignancy; metastasis or recurrence from another colorectal cancer was excluded; tumors must be distinctly separated by at least 5 cm of all intact bowel wall from each other; SMPC has abnormal cells between tumor and normal mucosa and abnormal gland of transitional zone; each cancer is infiltrating carcinoma except the carcinoma in situ; all the cancers are detected at the same time or within 6 months...
January 25, 2018: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
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