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Familial polyposis

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https://www.readbyqxmd.com/read/28916833/inhibition-of-wnt-%C3%AE-catenin-pathway-and-histone-acetyltransferase-activity-by-rimonabant-a-therapeutic-target-for-colon-cancer
#1
Maria Chiara Proto, Donatella Fiore, Chiara Piscopo, Silvia Franceschelli, Valentina Bizzarro, Chiara Laezza, Gianluigi Lauro, Alessandra Feoli, Alessandra Tosco, Giuseppe Bifulco, Gianluca Sbardella, Maurizio Bifulco, Patrizia Gazzerro
In a high percentage (≥85%) of both sporadic and familial adenomatous polyposis forms of colorectal cancer (CRC), the inactivation of the APC tumor suppressor gene initiates tumor formation and modulates the Wnt/β-Catenin transduction pathways involved in the control of cell proliferation, adhesion and metastasis. Increasing evidence showed that the endocannabinoids control tumor growth and progression, both in vitro and in vivo. We evaluated the effect of Rimonabant, a Cannabinoid Receptor 1 (CB1) inverse agonist, on the Wnt/β-Catenin pathway in HCT116 and SW48 cell lines carrying the genetic profile of metastatic CRC poorly responsive to chemotherapies...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#2
Christophe Rosty
Polyps of the gastrointestinal tract are very common lesions and most frequently sporadic in nature. Some polyp subtypes are associated with rare hereditary polyposis syndromes, including juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. However, many sporadic benign lesions of the gastrointestinal tract can mimic some of these syndromic hamartomatous polyps. The role of the surgical pathologist is to raise the possibility of a hereditary condition in case of suggestive polyp histology and to look for clinical information to support the suspected diagnosis...
September 8, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28900777/an-exploration-of-genotype-phenotype-link-between-peutz-jeghers-syndrome-and-stk11-a-review
#3
REVIEW
Julian Daniell, John-Paul Plazzer, Anuradha Perera, Finlay Macrae
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and thyroid papillary malignancy...
September 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28891849/adrenal-lesions-in-patients-with-attenuated-familial-adenomatous-polyposis-and-mutyh-associated-polyposis
#4
Frank G J Kallenberg, Barbara A J Bastiaansen, C Yung Nio, Maarten R Soeters, Marja A Boermeester, Cora M Aalfs, Patrick M M Bossuyt, Evelien Dekker
BACKGROUND: The reported proportion of patients with familial adenomatous polyposis who have adrenal lesions varies between 7% and 13% compared with 4% in the general population; the prevalence of adrenal lesions in patients with attenuated familial adenomatous polyposis and MUTYH-associated polyposis is unknown. Data on the clinical relevance and clinical course are limited. OBJECTIVE: We aimed to report on the frequency, characteristics, and progression of adrenal lesions in polyposis patients...
October 2017: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/28890814/outcomes-and-complications-of-radiation-therapy-in-patients-with-familial-adenomatous-polyposis
#5
Meng Gan, Dustin Boothe, Deborah W Neklason, N Jewel Samadder, Jonathan Frandsen, Megan B Keener, Shane Lloyd
BACKGROUND: The outcomes, complications, and rates of secondary malignancies from radiation therapy (RT) are not known for patients with familial adenomatous polyposis (FAP). METHODS: We queried the Hereditary Gastrointestinal Cancer Registry (HGCR) for patients with FAP who received RT. Outcomes assessed included acute and late treatment toxicity and secondary malignancies. RESULTS: We identified 15 patients undergoing 18 treatment courses...
August 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28887722/dental-anomalies-in-pediatric-patients-with-familial-adenomatous-polyposis
#6
Seth Septer, Brenda Bohaty, Robin Onikul, Vandana Kumar, Karen B Williams, Thomas M Attard, Craig A Friesen, Lynn Roosa Friesen
Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28868184/multiple-endocrine-neoplasia-2b-differential-increase-in-enteric-nerve-subgroups-in-muscle-and-mucosa
#7
John M Hutson, Pam J Farmer, Cristal J Peck, Chung W Chow, Bridget R Southwell
Multiple endocrine neoplasia 2B (MEN2B) is a rare syndrome caused by an activating mutation of the RET gene, leading to enteric gangliomatosis. This child presented with constipation at 1-mo old, was diagnosed with MEN2B by rectal biopsy at 4 mo, had thyroidectomy at 9 mo and a colectomy at 4 years. We studied the extent of neuronal and nerve fibre proliferation and which classes of enteric nerves are affected by examining the colon with multiple neuronal antibodies. Resected transverse colon was fixed, frozen, sectioned and processed for fluorescence immunohistochemistry labelling with antibodies against TUJ1, Hu, ChAT, NOS, VIP, SP and CGRP and cKit...
August 15, 2017: World Journal of Gastrointestinal Pathophysiology
https://www.readbyqxmd.com/read/28846104/berberine-binds-rxr%C3%AE-to-suppress-%C3%AE-catenin-signaling-in-colon-cancer-cells
#8
H Ruan, Y Y Zhan, J Hou, B Xu, B Chen, Y Tian, D Wu, Y Zhao, Y Zhang, X Chen, P Mi, L Zhang, S Zhang, X Wang, H Cao, W Zhang, H Wang, H Li, Y Su, X K Zhang, T Hu
Berberine, an isoquinoline alkaloid, is a traditional oriental medicine used to treat diarrhea and gastroenteritis. Recently, we reported that it could inhibit the growth of intestinal polyp in animals and in patients with the familial adenomatous polyposis by downregulating β-catenin signaling. However, the intracellular target mediating the effects of berberine remains elusive. Here, we provide evidence that berberine inhibits β-catenin function via directly binding to a unique region comprising residues Gln275, Arg316 and Arg371 in nuclear receptor retinoid X receptor alpha (RXRα), where berberine concomitantly binding to and synergistically activating RXRα with 9-cis-retinoic acid (9-cis-RA), a natural ligand binding to the classical ligand-binding pocket of RXRα...
August 28, 2017: Oncogene
https://www.readbyqxmd.com/read/28842050/hereditary-or-sporadic-polyposis-syndromes
#9
REVIEW
Gianluca Basso, Paolo Bianchi, Alberto Malesci, Luigi Laghi
Polyposis syndromes are encountered in endoscopy practice, and are considered rare entities, accounting for ≤1% of colorectal cancer. Polyposis can occur within inherited syndromes or as "sporadic" cases of unknown etiology. Their proper characterization is relevant for patient management, and should nowadays drive appropriate genetic tests which have a key role in clinical practice for driving surveillance and colorectal cancer prevention, enlarged to relatives. Polyposis classification is based upon polyp number and histology, familial and personal history...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28842049/management-of-small-bowel-polyps-a-literature-review
#10
REVIEW
Rabia A de Latour, Saikiran M Kilaru, Seth A Gross
Despite the small bowel comprising 90% of the mucosal surface area of the gastrointestinal tract, it is a rare site for neoplasia and only accounts for a little over 3% of the tumors that arise in the digestive tract. Benign small bowel lesions include lipomas, lymphangiomas, leiomyomas, neurofibromas, nodular lymphoid hyperplasia and adenomas, many of which are precursors to malignant lesions. Several polyposis syndromes are associated with small bowel polyps as well, including familial adenomatous polyposis syndrome, lynch syndrome, Peutz-Jeghers syndrome, Cowden syndrome and juvenile polyposis syndrome...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28842047/evaluation-and-management-of-gastric-epithelial-polyps
#11
REVIEW
R Castro, P Pimentel-Nunes, M Dinis-Ribeiro
Gastric polyps include a wide spectrum of lesions with different histology and neoplastic potential. They are found in up to 6% of upper gastrointestinal endoscopy and are usually asymptomatic and incidentally diagnosed, being in the vast majority epithelial gastric polyps. Hyperplastic, fundic gland and adenomas are the most common types of gastric polyps and, although each type may have typical endoscopic appearances, they all must be sampled at the initial endoscopy for histological assessment. Also, the normal appearing gastric mucosa should be sampled to stage atrophic changes, rule out endoscopically non-visible dysplasia and to diagnose Helicobacter pylori...
August 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28831607/prognostic-impact-of-hospital-volume-on-familial-adenomatous-polyposis-a-nationwide-multicenter-study
#12
Masahiro Tanaka, Yukihide Kanemitsu, Hideki Ueno, Hirotoshi Kobayashi, Tsuyoshi Konishi, Fumio Ishida, Tatsuro Yamaguchi, Takao Hinoi, Yasuhiro Inoue, Naohiro Tomita, Hideyuki Ishida, Kenichi Sugihara
PURPOSE: Many studies have shown that hospital volume is significantly associated with short- and long-term outcomes in various diseases, including cancer. However, there have been no reports discussing the relationship between hospital volume and familial adenomatous polyposis (FAP). This study aimed to clarify whether hospital volume affects short- and long-term outcomes in FAP patients. METHODS: We established a retrospectively collected database of FAP patients who underwent initial surgical treatment at 23 Japanese institutions during 2000-2012...
August 22, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28815038/management-of-desmoid-tumours-a-large-national-database-of-familial-adenomatous-patients-shows-a-link-to-colectomy-modalities-and-low-efficacy-of-medical-treatments
#13
T Walter, C Zhenzhen Wang, O Guillaud, E Cotte, A Pasquer, O Vinet, G Poncet, T Ponchon, J-C Saurin
BACKGROUND: Desmoid tumours represent a major complication of familial adenomatous polyposis. Our aims were to study the factors associated with the development of desmoid tumours in familial adenomatous polyposis patients, and to describe presentation and management of desmoid tumours. METHODS AND PATIENTS: We reviewed all patients with familial adenomatous polyposis followed at our institution between 1965-2013, with either identified adenomatous polyposis coli gene mutation, or a personal and family history suggesting adenomatous polyposis coli-related polyposis...
August 2017: United European Gastroenterology Journal
https://www.readbyqxmd.com/read/28808213/the-interaction-between-the-wnt-%C3%AE-catenin-signaling-cascade-and-pkg-activation-in-cancer
#14
Kevin Lee, Gary A Piazza
The activation of the Wnt/β-catenin signaling cascade has been well studied and documented in colorectal cancer (CRC). The long-term use of non-steroidal anti-inflammatory drugs (NSAIDs) has been shown to reduce the incidence and risk of death from CRC in numerous epidemiological studies. The NSAID sulindac has also been reported to cause regression of precancerous adenomas in individuals with familial adenomatous polyposis who are at high risk of developing CRC. The mechanism responsible for cancer chemopreventive activity of NSAIDs is not well understood but may be unrelated to their cyclooxygenase inhibitory activity...
January 19, 2017: Journal of Biomedical Research
https://www.readbyqxmd.com/read/28792655/multiple-pilomatrixomas-in-a-survivor-of-wnt-activated-medulloblastoma-leading-to-the-discovery-of-a-germline-apc-mutation-and-the-diagnosis-of-familial-adenomatous-polyposis
#15
Charles R Bendelsmith, Mary M Skrypek, Sachin R Patel, Dinel A Pond, Amy M Linabery, Anne E Bendel
Because children diagnosed with WNT-activated medulloblastoma have a 10-year overall survival rate of 95%, active long-term follow-up is critically important in reducing mortality from other causes. Here, we describe an 11-year-old adopted female who developed multiple pilomatrixomas 3 years after diagnosis of WNT-activated medulloblastoma, an unusual finding that prompted deeper clinical investigation. A heterozygous germline APC gene mutation was discovered, consistent with familial adenomatous polyposis...
August 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28791770/a-novel-apc-promoter-1b-deletion-shows-a-founder-effect-in-italian-patients-with-classical-familial-adenomatous-polyposis-phenotype
#16
Monica Marabelli, Viviana Gismondi, Maria Teresa Ricci, Annalisa Vetro, Raefa Abou Khouzam, Valentina Rea, Marco Vitellaro, Orsetta Zuffardi, Liliana Varesco, Guglielmina Nadia Ranzani
Familial adenomatous polyposis is a Mendelian syndrome in which germline loss-of-function mutations of APC are associated with multiple adenomatous polyps of the large bowel, a multiplicity of extracolonic features, and a high lifetime risk of colorectal cancer. Different APC germline mutations have been identified, including sequence changes, genomic rearrangements, and expression defects. Recently, very rare families have been associated with constitutive large deletions encompassing the APC-5' regulatory region, while leaving the remaining gene sequence intact; the regulatory region contains a proximal and a distal promoter, called 1A and 1B, respectively...
August 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28790112/burden-and-profile-of-somatic-mutation-in-duodenal-adenomas-from-patients-with-familial-adenomatous-and-mutyh-associated-polyposis
#17
Laura Elizabeth Thomas, Joanna J Hurley, Elena Meuser, Sian Jose, Kevin E Ashelford, Matthew Mort, Shelley Idziaszczyk, Julie Maynard, Helena Leon Brito, Manon Harry, Angharad Walters, Meera Raja, Sarah Jane Walton, Sunil Dolwani, Geraint T Williams, Meleri Morgan, Morgan Moorghen, Susan K Clark, Julian R Sampson
Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and MAP duodenal adenomas to better understand duodenal tumorigenesis in these disorders.<br /><br />Experimental Design: Sixty-nine adenomas were biopsied during endoscopy in 16 FAP and 10 MAP patients with duodenal polyposis. Ten FAP and 10 MAP adenomas and matched blood DNA samples were exome sequenced, 42 further adenomas underwent targeted sequencing and 47 were studied by array comparative genomic hybridization...
August 8, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28782241/a-novel-mutation-of-adenomatous-polyposis-coli-apc-gene-results-in-the-formation-of-supernumerary-teeth
#18
Fang Yu, Wenping Cai, Beizhan Jiang, Laijun Xu, Shangfeng Liu, Shouliang Zhao
Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth-related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome...
August 7, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28765715/children-s-international-polyposis-chip-study-a-randomized-double-blind-placebo-controlled-study-of-celecoxib-in-children-with-familial-adenomatous-polyposis
#19
Carol A Burke, Robin Phillips, Manuela F Berger, Chunming Li, Margaret Noyes Essex, Dinu Iorga, Patrick M Lynch
OBJECTIVE: To evaluate the efficacy and safety of celecoxib versus placebo in the prevention and treatment of colorectal polyposis in children with familial adenomatous polyposis (FAP). METHODS: In this Phase III, double-blind, randomized, placebo-controlled, multicenter trial patients aged 10-17 years with FAP were randomized to celecoxib (16 mg/kg/day) or placebo for up to 5 years. Patients underwent annual assessments, including colonoscopies, to detect the time from randomization to the earliest occurrence of ≥20 polyps (>2 mm in size) or colorectal malignancy...
2017: Clinical and Experimental Gastroenterology
https://www.readbyqxmd.com/read/28759002/smad4-impedes-the-conversion-of-nk-cells-into-ilc1-like-cells-by-curtailing-non-canonical-tgf-%C3%AE-signaling
#20
Victor S Cortez, Tyler K Ulland, Luisa Cervantes-Barragan, Jennifer K Bando, Michelle L Robinette, Qianli Wang, Andrew J White, Susan Gilfillan, Marina Cella, Marco Colonna
Among the features that distinguish type 1 innate lymphoid cells (ILC1s) from natural killer (NK) cells is a gene signature indicative of 'imprinting' by cytokines of the TGF-β family. We studied mice in which ILC1s and NK cells lacked SMAD4, a signal transducer that facilitates the canonical signaling pathway common to all cytokines of the TGF-β family. While SMAD4 deficiency did not affect ILC1 differentiation, NK cells unexpectedly acquired an ILC1-like gene signature and were unable to control tumor metastasis or viral infection...
September 2017: Nature Immunology
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