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Ioan Jung, Simona Gurzu, Gligore Sabin Turdean
Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type I and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis...
November 15, 2015: World Journal of Gastrointestinal Oncology
Stéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon, Marion Bougeard, Caroline Abadie, David Malka, Jacqueline Duffour, Françoise Desseigne, Chrystelle Colas, Pascal Pujol, Sophie Lejeune, Catherine Dugast, Bruno Buecher, Laurence Faivre, Dominique Leroux, Paul Gesta, Isabelle Coupier, Rosine Guimbaud, Pascaline Berthet, Sylvie Manouvrier, Estelle Cauchin, Fabienne Prieur, Pierre Laurent-Puig, Marine Lebrun, Philippe Jonveaux, Jean Chiesa, Olivier Caron, Marie-Emmanuelle Morin-Meschin, Florence Polycarpe-Osaer, Sophie Giraud, Aziz Zaanan, Delphine Bonnet, Ludovic Mansuy, Valérie Bonadona, Salima El Chehadeh, François Duhoux, Marion Gauthier-Villars, Jean-Christophe Saurin, Marie-Agnès Collonge-Rame, Laurence Brugières, Qing Wang, Brigitte Bressac-de Paillerets, Jean-Marc Rey, Christine Toulas, Marie-Pierre Buisine, Myriam Bronner, Joanna Sokolowska, Agnès Hardouin, Anne-Françoise Cailleux, Hakim Sebaoui, Julien Blot, Julie Tinat, Jacques Benichou, Thierry Frebourg
To determine if the at-risk single-nucleotide polymorphism (SNP) alleles for colorectal cancer (CRC) could contribute to clinical situations suggestive of an increased genetic risk for CRC, we performed a prospective national case-control study based on highly selected patients (CRC in two first-degree relatives, one before 61 years of age; or CRC diagnosed before 51 years of age; or multiple primary CRCs, the first before 61 years of age; exclusion of Lynch syndrome and polyposes) and controls without personal or familial history of CRC...
January 2016: European Journal of Human Genetics: EJHG
Takefumi Yoshida, Tetsushi Kinugasa, Yousuke Oka, Tomoaki Mizobe, Hiroto Ishikawa, Naoki Mori, Taro Isobe, Eri Katayama, Yoshito Akagi
INTRODUCTION: Laparoscopic surgery is a minimally invasive approach with good treatment outcomes and is currently the standard surgery for colorectal cancer in Japan. Mesenteric closure is considered unnecessary in laparoscopic colorectal surgery because it can damage the bowel and blood vessels. However, an internal hernia may develop if the mesentery is not repaired. CASE PRESENTATION: We report a case of internal hernia in a 61-year-old male of Japanese ethnicity...
2014: Journal of Medical Case Reports
Wojciech Cichy, Beata Klincewicz, Andrzej Plawski
Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor β pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases...
June 29, 2014: Archives of Medical Science: AMS
María del Carmen Castro-Mujica, Yasser Sullcahuamán-Allende, Fernando Barreda-Bolaños, Luis Taxa-Rojas
BACKGROUND: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited síndromes that predispose to CRC. OBJECTIVE: To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN). MATERIAL AND METHODS: A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013...
April 2014: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
Bin Li, Colin A Flaveny, Camilla Giambelli, Dennis Liang Fei, Lu Han, Brian I Hang, Feng Bai, Xin-Hai Pei, Vania Nose, Oname Burlingame, Anthony J Capobianco, Darren Orton, Ethan Lee, David J Robbins
Mutations in the WNT-pathway regulator ADENOMATOUS POLYPOSIS COLI (APC) promote aberrant activation of the WNT pathway that is responsible for APC-associated diseases such as Familial Adenomatous Polyposis (FAP) and 85% of spontaneous colorectal cancers (CRC). FAP is characterized by multiple intestinal adenomas, which inexorably result in CRC. Surprisingly, given their common occurrence, there are few effective chemotherapeutic drugs for FAP. Here we show that the FDA-approved, anti-helminthic drug Pyrvinium attenuates the growth of WNT-dependent CRC cells and does so via activation of CK1α...
2014: PloS One
Mohammad Naeimi, Elham Azarnoosh, Mohammad Sadegh Javedani Gholparvar, Mohammad Reza Naeimi
Chronic rhinosinusitis (CRS) is a common disease with significant effects on the quality of life. Infection was previously a common cause of rhino sinusitis, while nowadays its main cause is inflammation. Non-polyposis CRS patients who were resistant to medical treatment and underwent endoscopic sinus surgery in Ghaem and Imam Reza hospitals were studied from December 2008 to November 2009. There were 11 males and four females ranging in age from 14 to 57 years with the average age of 32.2. First, samples were taken from the ethmoid sinus and the ipsilateral middle turbinate...
August 2013: Indian Journal of Otolaryngology and Head and Neck Surgery
Edyta S Zagorowicz, Anna M Pietrzak, Ewa Wronska, Jacek Pachlewski, Piotr Rutkowski, Ewa Kraszewska, Jaroslaw Regula
AIM: To characterize small bowel (SB) tumors detected by capsule endoscopy (CE), and identify missed tumors. METHODS: The study included 145 consecutive patients in whom 150 CEs were performed. Following CE, the medical records of the study population were reviewed. Results of double- or single-balloon enteroscopy performed after CE and the results of surgery in all patients operated on were retrieved. The patients were contacted through telephone interviews or postal mail...
December 21, 2013: World Journal of Gastroenterology: WJG
Ashish Shrivastava, Akshara Gupta, Achal Gupta, Jyoti Shrivastava
The Peutz Jeghers syndrome (PJS) is an autosomal dominant disorder which is characterised by hamartomatous polyposes of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. We are reporting a case of a 15-year-old male with Peutz Jeghers syndrome, who presented to us with features of chronic intestinal obstruction and anaemia. Initially, patient was managed conservatively, but later on, an elective exploratory laparotomy was done for definitive management of intussusception...
October 2013: Journal of Clinical and Diagnostic Research: JCDR
Mohammad Reza Majidi, Navid Nourizadeh, Kamran Ghafarzadegan, Sara Shahriari, Mohammadtaghi Shakeri
The aim of this study was to evaluate the effect of surgery on the histology of nasal mucosa in patients with nasal polyposis and the comparison/also to compare it with normal population. This case-control study was conducted on 20 patients at the Otorhinolaryngology-Head and Neck Surgery Department, Qaem Hospital, Mashhad University of Medical Sciences during October 2007 to June 2008. Patients with polyposis and patients with septal deviation who were candidate for septoplasty were considered as case and control groups, respectively, including 10 subjects in each...
December 2012: Indian Journal of Otolaryngology and Head and Neck Surgery
Emanuela Lucci-Cordisco, Mauro Risio, Tiziana Venesio, Maurizio Genuardi
Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented...
November 2013: American Journal of Medical Genetics. Part A
V Jirásek
The article provides an overview of hereditary polyposis syndromes of the digestive tract and genetic mechanisms in greater detail. A brief summary of the basic symptoms of the condition, including extra gastrointestinal signs, is given. Significant diagnostic procedures are listed. The therapy for these disease conditions is either operative or endoscopic.
July 2013: Vnitr̆ní Lékar̆ství
Mark Clendenning, Joanne P Young, Michael D Walsh, Sonja Woodall, Julie Arnold, Mark Jenkins, Aung Ko Win, John L Hopper, Kevin Sweet, Steven Gallinger, Christophe Rosty, Susan Parry, Daniel D Buchanan
BACKGROUND: Recent reports have observed that individuals with serrated polyps, some of whom meet the clinical diagnostic criteria for Serrated Polyposis Syndrome (SPS), are among those who carry germline mutations in genes associated with polyposis syndromes including; (1) genes known to underlie hamartomatous polyposes (SMAD4, BMPR1A, and PTEN), (2) MUTYH-associated polyposis and (3) GREM1 in Hereditary Mixed Polyposis Syndrome (HMPS). The aim of this study was to characterise individuals fulfilling the current WHO criteria for SPS for germline mutations in these polyposis-associated genes...
2013: PloS One
G Varghese, P Murthy
Although much has been written about the surgical technique of functional endoscopic sinus surgery, for sinusitis and nasal polyposes, the other uses of the nasal endoscope has not been mentioned, Seven hundred and twenty five patients have undergone endoscopic nasal office evaluations and subsequent functional endoscopic sinus surgery for various indications in our unit from December 1990 to September 1994. Though most of the surgeries were for nasal polyposes and sinusitis, we have used the scope for various other indications...
January 1999: Indian Journal of Otolaryngology and Head and Neck Surgery
Bruno Buecher, Catherine Bonaïti, Marie-Pierre Buisine, Chrystelle Colas, Jean-Christophe Saurin
Recent years have been characterised by an improvement in our knowledge of genetic determinism of adenomatous polyposes and by the description in 2002 of a new entity called "MUTYH-associated polyposis" (MAP), related to biallelic mutations of this gene. Its autosomal recessive mode of inheritance contrasts with the autosomal dominant inheritance of the classical "familial adenomatous polyposis" (FAP), associated with an APC germline mutation. Although some phenotypic features may be of value to distinguish these two conditions, their clinical "spectra" largely overlap and the differential diagnosis may be difficult...
September 2012: Familial Cancer
I Spier, S Aretz
Hereditary gastrointestinal polyposis syndromes account for around 1% of all colorectal cancers; most of them are associated with a broad spectrum of extracolonic tumors. The initial diagnosis is based on endoscopic findings and polyp histology. Molecular genetic screening is important for the delineation of conditions with a similar phenotype such as autosomal dominant familial adenomatous polyposis (FAP) and autosomal recessive MUTYH-associated polyposis (MAP). Identification of the germline mutation in an affected person is a prerequisite for the exact evaluation of the recurrence risk in relatives and the predictive testing of asymptomatic persons at risk...
April 2012: Der Internist
Jesper Krarup, Lars Vendelbo Johansen, Troels Bundgaard, Einar Pahle
We describe a 45 year-old man with a fibrovascular polyp attached to the entrance of the oesophagus. The patient had a history with regurgitation of polypose foreign body 4-5 years ago with spontaneous remission. Later the patient developed dysphagia, chest pain and weight loss. Gastroscopy revealed a large polyp in the oesophagus and biopsies showed no malignancy. Excision was intended to be performed endoscopically, but due to size, risk of bleeding and recurrence the operation was changed to a transcervical procedure...
October 31, 2011: Ugeskrift for Laeger
A Roessner, D Kuester, T Guenther
Biopsies and resection specimens of the gastrointestinal tract are a major part of the routine workload in many histopathology departments, whereby polypoid lesions are generally the main focus. In addition to distinguishing non-neoplastic from neoplastic polyps and evaluating the grade of dysplasia of the latter, the pathologist should always consider the possibility of an underlying polyposis syndrome. Not only have additional hereditary polyposis syndromes been identified in recent years due to a better understanding of their genetic and epigenetic alterations but also knowledge on well known polyposes has improved, leading to subtyping of various forms according to their different genotype...
July 2011: Der Pathologe
Christophe Rosty, Susan Parry, Joanne P Young
Serrated polyposis has only recently been accepted as a condition which carries an increased personal and familial risk of colorectal cancer. Described over four decades ago, it remains one of the most underrecognized and poorly understood of all the intestinal polyposes. With a variety of phenotypic presentations, it is likely that serrated polyposis represents a group of diseases rather than a single entity. Further, neoplastic progression in serrated polyposis may be associated with premature aging in the normal mucosa, typified by widespread gene promoter hypermethylation...
2011: Pathology Research International
R Coriat, M Mozer, F Caux, E Caux, A Chryssostalis, B Terris, S Grandjouan, R Benamouzig, A Martin, S Chaussade
Cowden syndrome is characterized by diffuse hamartomas involving the whole digestive tract. The gastrointestinal expression of the disease is inconstant, but hamartomatous polyposes are frequent. In a multicenter study we studied the endoscopic appearance of Cowden syndrome--as defined by fulfillment of international consortium criteria--in 10 patients. In 6 of the 10 patients the connection with Cowden syndrome was made retrospectively on the basis of the gastrointestinal endoscopic findings. All patients had upper and lower gastrointestinal tract involvement...
August 2011: Endoscopy
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