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Polyposis syndromes

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https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#1
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
#2
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
#3
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/28868184/multiple-endocrine-neoplasia-2b-differential-increase-in-enteric-nerve-subgroups-in-muscle-and-mucosa
#4
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/28846816/granulomatous-skin-reactions-after-tumor-vaccine-in-two-patients
#5
Christian Menzer, Andreas Epple, Marta Kogut, Alexander Enk, Eva Hadaschik, Knut Schaekel
Two patients with HNPCC-syndrome (Hereditary Non-Polyposis Colorectal Cancer), an autosomal dominant genetic disorder in which patients are at higher risk of developing colorectal cancer, presented in our out-patient clinic with asymptomatic skin alterations at the injection sites of an experimental tumor-specific vaccine. The vaccine was given as part of a study in which colorectal carcinoma patients with lymph node and organ metastases and high microsatellite instability (MSI-H) received a vaccine containing fragments of specific tumor proteins...
August 28, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28842050/hereditary-or-sporadic-polyposis-syndromes
#6
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
#7
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
#8
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/28833703/nsaids-increase-the-risk-of-mucosal-injuries-but-not-of-overt-small-bowel-bleeding
#9
EDITORIAL
Gian Eugenio Tontini, Helmut Neumann
Since 2001, small bowel capsule endoscopy (SBCE) has been widely implemented into clinical practice as a minimal-invasive diagnostic approach for diagnosing small bowel diseases. Currently, SBCE is moreover recognized as the first-line procedure for the diagnostic work-up of obscure gastrointestinal bleeding (OGIB) and for a variety of SB disorders including Crohn's disease, inherited polyposis syndromes, suspected small bowel tumors or refractory celiac disease [1,2]. In addition, capsule endoscopy is used to guide the decision whether device assisted enteroscopy (i...
August 20, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28796726/the-american-society-of-colon-and-rectal-surgeons-clinical-practice-guidelines-for-the-management-of-inherited-polyposis-syndromes
#10
Daniel Herzig, Karin Hardimann, Martin Weiser, Nancy Yu, Ian Paquette, Daniel L Feingold, Scott R Steele
No abstract text is available yet for this article.
September 2017: Diseases of the Colon and Rectum
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
#11
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
#12
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/28782241/a-novel-mutation-of-adenomatous-polyposis-coli-apc-gene-results-in-the-formation-of-supernumerary-teeth
#13
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/28751521/the-third-pathway-of-colorectal-carcinogenesis
#14
REVIEW
Carlos A Rubio, Giacomo Puppa, Giovanni de Petris, Lorand Kis, Peter T Schmidt
AIMS: The majority of the colorectal carcinomas (CRC) arise in a vast mucosal area built with columnar cells and mucus-producing goblet cells. These carcinomas evolve via the conventional (tubular/villous) adenoma-carcinoma pathway, or the serrated adenoma-carcinoma pathway. Much less frequently CRC arise in the gut-associated lymphoid tissue (GALT) mucosal domain via the third pathway of colorectal carcinogenesis. METHODS: All publications on human colorectal GALT carcinomas in the literature were reviewed...
July 27, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28725309/cronkhite-canada-syndrome-a-rare-cause-of-chronic-diarrhea
#15
Umair Iqbal, Ahmad Chaudhary, Muhammad Arsalan Karim, Hafsa Anwar, Nancy Merrell
Cronkhite-Canada syndrome (CCS) is a rare non-hereditary disease characterized by chronic diarrhea, diffuse intestinal polyposis and onychodystrophy. We present here a case of a middle-aged female who presented with chronic intermittent bloody diarrhea associated alopecia and loss of finger and toe nails. Labs were remarkable for microcytic anemia and severe hypoalbuminemia. Endoscopy showed numerous polyps scattered throughout the colon. She was treated with nutritional support and corticosteroid with complete resolution of her symptoms and endoscopic findings...
June 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28716492/unusual-presenting-manifestation-of-a-rare-polyposis-cowden-syndrome
#16
Luisa Adán Merino, Mercedes Aldeguer Martínez, Federico Álvarez Rodríguez, Marta Barceló López, Rocío Plaza Santos, Fátima Valentín Gómez
No abstract text is available yet for this article.
July 14, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28701784/familial-associations-of-colorectal-cancer-with-other-cancers
#17
Hongyao Yu, Akseli Hemminki, Kristina Sundquist, Kari Hemminki
Colorectal cancer (CRC) has a strong familial component which extends to discordant cancers (ie non-CRC tumors). This is best seen in cancer syndromes such as hereditary non-polyposis colorectal cancer (HNPCC) which predisposes to several tumor types. Population-based family studies have also found discordant associations for CRC but they have included cancers which manifest in HNPCC, and there is no convincing evidence of discordant associations beyond the known syndromes. We address familial associations of non-CRC tumors with CRC using the resources of the Swedish Family-Cancer Database and applying a powerful approach of assessing familial relative risks in families of increasing numbers of patients with discordant cancers...
July 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28694653/attenuated-adenomatous-polyposis-of-the-large-bowel-present-and-future
#18
EDITORIAL
Luca Roncucci, Monica Pedroni, Francesco Mariani
Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations...
June 21, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28689546/-two-cases-of-the-rare-cronkhite-canada-syndrome
#19
Thorbjørn Christensen, Ove B Schaffalitzky de Muckadell
Cronkhite-Canada syndrome (CCS) is a rare non-heritable condition characterized by gastrointestinal polyposis, dysgeusia, malnutrition, total alopecia and onychodystrophia. Two Danish cases of CCS (an 88-year-old female and a 69-year-old male) presented with signs of malnutrition, dyspepsia, vomiting, dysgeusia and hair loss. An upper endoscopy revealed marked oedema and polyposis in the stomach. Both patients developed colonic adenocarcinomas which were radically operated. Treatment consisted of hyperalimentation, prednisolone and azathioprine...
July 3, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28688626/serrated-polyposis-syndrome
#20
N González, M Caballero, C Cannesa
No abstract text is available yet for this article.
July 5, 2017: Revista de Gastroenterología de México
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