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Polyposis syndromes

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https://www.readbyqxmd.com/read/29141268/gastric-adenocarcinoma-and-proximal-polyposis-of-the-stomach-gapps-a-rare-recently-described-gastric-polyposis-syndrome-report-of-a-case
#1
Andrea Beer, Berthold Streubel, Reza Asari, Clemens Dejaco, Georg Oberhuber
In rare cases with multiple gastric polyps in the corpus and fundus, a recently described gastric polyposis syndrome called gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) has to be considered. We report on the findings in a patient fulfilling the criteria of this disease.A female patient born in 1977 underwent gastroscopy in 2005 due to recurrent abdominal pain. Endoscopy revealed more than 100 fundic gland polyps in the corpus and fundus. An ileocolonoscopy was inconspicuous. The patient did not take proton pump inhibitors...
November 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29132333/oestrogen-receptor-beta-isoform-expression-in-sporadic-colorectal-cancer-familial-adenomatous-polyposis-and-progressive-stages-of-colorectal-cancer
#2
Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Hellen Kuasne, Ranyell Matheus Spencer, Wilson Toshihiko Nakagawa, Tiago Santoro Bezerra, Bruna Catin Kupper, Renata Maymi Takahashi, Mateus Barros Filho, Silvia Regina Rogatto, Ademar Lopes
BACKGROUND: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are poorly described. METHODS: This study aimed to investigate the expression levels of the ERβ1, ERβ2, ERβ4 and ERβ5 isoform variants using quantitative RT-PCR (921 analyses) in FAP, normal mucosa, adenomatous polyps and sporadic colorectal carcinomas...
November 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29122597/upper-gi-involvement-in-children-with-familial-adenomatous-polyposis-syndrome-single-center-experience-and-meta-analysis-of-the-literature
#3
Luz H Gutierrez Sanchez, Mouaz Alsawas, Michael Stephens, Mohammad Hassan Murad, Imad Absah
BACKGROUND AND AIMS: Familial adenomatous polyposis (FAP) is a hereditary syndrome that can affect the entire GI tract. Current screening recommendations include esophagogastroduodenoscopy (EGD) starting at age 25 to 30 years or earlier in symptomatic patients. However, there are few reports describing upper GI tract involvement in children with FAP which support the notion of early screening. The aim of our study is to understand the prevalence and severity of upper GI involvement in children with FAP...
November 6, 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29112017/neoplastic-lesions-of-gastric-adenocarcinoma-and-proximal-polyposis-syndrome-gapps-are-gastric-phenotype
#4
Willem B de Boer, Hooi Ee, Marian P Kumarasinghe
Neoplastic lesions of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) are gastric phenotype. GAPPS was reported in 2011 as a new autosomal dominant gastric polyposis syndrome characterized by involvement of the gastric body/fundus with sparing of the antrum by multiple polyps, reported to be primarily fundic gland polyps (FGPs), with progression to dysplasia and adenocarcinoma of intestinal type. Our series consists of 51 endoscopic biopsies and 5 gastrectomy specimens from 25 patients belonging to a previously defined GAPPS family...
November 3, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29105096/nthl1-and-mutyh-polyposis-syndromes-two-sides-of-the-same-coin
#5
REVIEW
Robbert D A Weren, Marjolijn J L Ligtenberg, Ad Geurts van Kessel, Richarda M De Voer, Nicoline Hoogerbrugge, Roland P Kuiper
It is well-established now that germline genomic aberrations can underlie high-penetrant familial polyposis and colorectal cancer syndromes, but a genetic cause has not yet been found for the major proportion of patients with polyposis. Since next generation sequencing has become widely accessible, several novel, but rare, high-penetrant risk factors for adenomatous polyposis have been identified, all operating in pathways responsible for genomic maintenance and DNA repair. One of these is the base excision repair (BER) pathway...
November 3, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29103540/emerging-concepts-in-gastric-neoplasia-heritable-gastric-cancers-and-polyposis-disorders
#6
REVIEW
Rachel S van der Post, Fátima Carneiro
Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. Gastric adenocarcinoma and proximal polyposis of the stomach is a hereditary cancer syndrome caused by germline mutations in promoter 1B of APC. Other well-defined cancer syndromes, such as Lynch, Li-Fraumeni, and hereditary breast or ovarian cancer syndromes, are associated with increased risk of gastric cancer...
December 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29095867/role-of-galnt12-in-the-genetic-predisposition-to-attenuated-adenomatous-polyposis-syndrome
#7
Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, Carmen Poves, María Jesús Fernández-Aceñero, Clara Ruiz-Ponte, Patricia Llovet, David Marrupe, Vanesa García-Barberán, Beatriz García-Paredes, Pedro Pérez-Segura, Miguel de la Hoya, Eduardo Díaz-Rubio, Trinidad Caldés, Pilar Garre
The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC susceptibility. Partially inactivating variant, NM_024642.4:c.907G>A, p.(D303N), has been previously detected in familial CRC and proposed as the causative risk allele. Since phenotypes of the described carrier families showed not only CRC but also a polyp history, we hypothesized that GALNT12 could be involved in adenoma predisposition and consequently, in hereditary polyposis CRC syndromes...
2017: PloS One
https://www.readbyqxmd.com/read/29065108/towards-gene-and-gender-based-risk-estimates-in-lynch-syndrome-age-specific-incidences-for-13-extra-colorectal-cancer-types
#8
Christina Therkildsen, Steen Ladelund, Lars Smith-Hansen, Lars Joachim Lindberg, Mef Nilbert
BACKGROUND: In Lynch syndrome, inherited mismatch repair (MMR) defects predispose to colorectal cancer and to a wide spectrum of extra-colorectal tumours. Utilising a cohort study design, we aimed to determine the risk of extra-colorectal cancer and to identify yet unrecognised tumour types. METHODS: Data from 1624 Lynch syndrome mutation carriers in the Danish hereditary non-polyposis colorectal cancer register were used to estimate the sex- and age-specific incidence rate ratios (IRRs) for 30 extra-colorectal malignancies with comparison to the general population...
October 24, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/29058694/nail-matrix-pathology-in-cronkhite-canada-syndrome-the-first-case-report
#9
Mati Chuamanochan, Napatra Tovanabutra, Pongsak Mahanupab, Sarawut Kongkarnka, Siri Chiewchanvit
Cronkhite-Canada Syndrome (CCS) presents with gastrointestinal polyposis and the triad of cutaneous abnormalities including nail dystrophy, alopecia, and hyperpigmentation of the skin. The etiology is not well understood. The histology of skin lesion in CCS has not been routinely described. Especially, the nail matrix pathology has not been reported. In this study, the authors report the nail matrix pathology in a patient with CCS. Interestingly, the histologic evaluation revealed matrix hypergranulosis. Because matrix hypergranulosis is commonly found in several inflammatory nail diseases, this discovery points out that an inflammatory process is probably one of the important pathogeneses in CCS...
November 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29027468/serrated-polyposis-syndrome-associated-with-long-standing-inflammatory-bowel-disease
#10
Jesús Castro, Miriam Cuatrecasas, Francesc Balaguer, Elena Ricart, María Pellisé
Inflammatory bowel disease (IBD) patients are at an increased risk of developing colorectal cancer (CRC), which is thought to develop via the adenoma-carcinoma pathway. Since the discovery of the serrated carcinogenesis pathway and serrated polyposis syndrome (SPS), the incidence of carcinomas arising from serrated lesions in IBD patients has increased. We report three cases of long-standing IBD patients with associated serrated polyposis syndrome. At present, the pathophysiology of serrated lesions in IBD patients is not fully understood and there is a lack of strong evidence to confirm whether the manifestation of both conditions represents an increased risk of developing cancer...
November 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29027306/fenton-reaction-induced-renal-carcinogenesis-in-mutyh-deficient-mice-exhibits-less-chromosomal-aberrations-than-the-rat-model
#11
Guang Hua Li, Shinya Akatsuka, Shan Hwu Chew, Li Jiang, Takahiro Nishiyama, Akihiko Sakamoto, Takashi Takahashi, Mitsuru Futakuchi, Hiromu Suzuki, Kunihiko Sakumi, Yusaku Nakabeppu, Shinya Toyokuni
Oxidative stress including iron excess has been associated with carcinogenesis. The level of 8-oxoguanine, a major oxidatively modified base in DNA, is maintained very low by three distinct enzymes, encoded by OGG1, MUTYH and MTH1. Germline biallelic inactivation of MUTYH represents a familial cancer syndrome called MUTYH-associated polyposis. Here, we used Mutyh-deficient mice to evaluate renal carcinogenesis induced by ferric nitrilotriacetate (Fe-NTA). Although the C57BL/6 background is cancer-resistant, a repeated intraperitoneal administration of Fe-NTA induced a high incidence of renal cell carcinoma (RCC; 26...
October 13, 2017: Pathology International
https://www.readbyqxmd.com/read/28983650/-eosinophilic-granulomatosis-with-polyangiitis-churg-strauss-syndrome
#12
REVIEW
A Jerrentrup, T Müller, J Mariss, S Dylla
This article presents the case of a patient with dyspnea, a history of poorly controlled asthma, sinonasal polyposis, blood eosinophilia and transient pulmonary infiltrates. The autoantibodies antinuclear antibodies, cytoplasmic anti-neutrophil cytoplasmic antibodies (c-ANCA) and perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA) were negative. These symptoms are typical for eosinophilic granulomatosis with polyangiitis (EGPA, alternatively known as Churg-Strauss syndrome). The delay between onset and diagnosis in this case was several years...
October 5, 2017: Der Internist
https://www.readbyqxmd.com/read/28979711/clinical-predictors-for-sessile-serrated-polyposis-syndrome-a-case-control-study
#13
Yang Wu, Alexander Mullin, Alina Stoita
AIM: To compared individuals with serrated polyposis syndrome (SPS) to those with sessile serrated adenoma (SSA) and adenomas in the setting of endoscopists with high adenoma detection rates at a secondary and tertiary academic centre. METHODS: Retrospectively we collated the clinical, endoscopic and histological features of all patients with SPS at St Vincent's public and private hospital in the last 3 years. Patients were identified by searching through 2 pathology databases...
September 16, 2017: World Journal of Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28978970/continuing-medical-education-questions-october-2017-hereditary-colorectal-polyposis-and-cancer-syndromes-a-primer-on-diagnosis-and-management
#14
REVIEW
Ashish Malhotra, M N Paul
No abstract text is available yet for this article.
October 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28978964/continuing-medical-education-october-2017-hereditary-colorectal-polyposis-and-cancer-syndromes-a-primer-on-diagnosis-and-management
#15
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
October 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28975540/current-management-of-benign-epithelial-gastric-polyps
#16
REVIEW
Antonio R Cheesman, David A Greenwald, Shailja C Shah
Purpose of review Benign epithelial gastric polyps, although typically asymptomatic, are identified incidentally on upper endoscopy in up to 23% of patients. These include fundic gland, hyperplastic, and adenomatous polyps. Their appropriate characterization is critical as some have malignant potential, may be indicative of a gastric mucosal field defect, or may be related to an underlying polyposis syndrome. This review will discuss the current management of benign epithelial gastric polyps. Recent findings Association of gastric polyps with proton pump inhibitor use, Helicobacter pylori infection, risk of malignant transformation, and association with polyposis syndromes have been the focus of recent literature...
December 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28973356/setd6-dominant-negative-mutation-in-familial-colorectal-cancer-type-x
#17
Lorena Martín-Morales, Michal Feldman, Zlata Vershinin, Pilar Garre, Trinidad Caldés, Dan Levy
Familiar colorectal cancer type X (FCCTX) comprises families that fulfill the Amsterdam criteria for hereditary non-polyposis colorectal cancer, but that lack the mismatch repair deficiency that defines the Lynch syndrome. Thus, the genetic cause that increases the predisposition to colorectal and other related cancers in families with FCCTX remains to be elucidated. Using whole-exome sequencing, we have identified a truncating mutation in the SETD6 gene (c.791_792insA, p.Met264IlefsTer3) in all the affected members of a FCCTX family...
November 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28930817/cronkhite-canada-syndrome-associated-with-colon-cancer-metastatic-to-liver-a-case-report
#18
Jing Wang, Lei Zhao, Nina Ma, Juanjuan Che, Huihui Li, Bangwei Cao
RATIONALE: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Although malignant colon and gastric cancer have been reported in CCS, reports of distant metastasis have been rare in CCS...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28901964/the-role-of-the-surgical-pathologist-in-the-diagnosis-of-gastrointestinal-polyposis-syndromes
#19
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
#20
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
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