POLYPOSIS

作品数：100被引量：284H指数：8
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相关领域：医药卫生更多>>
相关作者：江从庆钱群张秋雷李超敏孙志萍更多>>
相关机构：武汉大学宝鸡市中心医院山西省人民医院中山大学附属第一医院更多>>
相关期刊：《Open Journal of Genetics》《World Journal of Experimental Medicine》《中国现代普通外科进展》《World Journal of Gastroenterology》更多>>
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Identification of a novel germline APC N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis
《Genes & Diseases》2024年第6期12-15,共4页Giovanna Forte Valentina Grossi Filomena Cariola Antonia Lucia Buonadonna Paola Sanese Katia De Marco Candida Fasano Martina Lepore Signorile Vittoria Disciglio Cristiano Simone 
Adenomatouspolyposis coli(APC)is akey tumor suppressor gene playing a central role in the Wnt signaling pathway throughβ-catenin down-regulation.1 APC germline pathogenic variants are associated with familial adenoma...
关键词：POLYPOSIS adenomatous FAMILIAL 
Dual primary gastric and colorectal cancer:The known hereditary causes and underlying mechanisms
《World Journal of Gastrointestinal Oncology》2024年第6期2264-2270,共7页Samy A Azer 
In this editorial,I commented on the paper by Lin et al,published in this issue of the World Journal of Gastrointestinal Oncology.The work aimed at analysing the clinicopathologic characteristics and prognosis of sync...
关键词：Dual gastric cancer and colorectal cancer HEREDITARY Hereditary diffuse gastric cancer Familial adenomatous polyposis Hereditary nonpolyposis colon cancer Lynch syndrome Other hamartomatous polyposis syndromes 
Ethmoidal Polyposis, Adenoid Hypertrophy and Tympanic Membrane Perforation—A Case Report
《International Journal of Otolaryngology and Head & Neck Surgery》2024年第3期178-186,共9页Ahmad Mahmud Mohammed Bello Fufore Abubakar Umar Hamisu Abdullahi Thomas Musa Samdi Auwal Adamu Onyekwere George B. Nwaorgu 
Background: Ethmoidal polyposis coexisting with adenoid enlargement and tympanic membrane perforation is a rare condition in otolaryngological practice. Evidences have shown that antrochoanal polyp often times coexist...
关键词：Sino-Nasal Polyps Adenoid Enlargement RHINOSINUSITIS Otitis Media Endoscopic Sinus Surgery 
Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome
《Genes & Diseases》2024年第2期524-527,共4页Noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle 
funded by the Spanish Ministry of Science and Innovation(Agencia Estatal de Investigacion),co-funded by FEDER funds-a way to build Europe-[PID2020-112595RB-I00(LV)];Instituto de Salud Carlos Ⅲ(CIBERONC CB16/12/00234);Government of Catalonia(AGAUR 2021SGR01112,CERCA Program for institutional support);Marie Sktodowska-Curie Individual Fellow ship(No.897064(NG-A));Scientific Foundation"Asociacion Espanola Contra el Cancer"[AECC Investigador contract(MT)].
Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTEN tumor suppressive function,have been proposed as an alternative mechanism of PTEN inactivation in PTEN-hamartoma-tumor sy...
关键词：WWP1 gastrointestinal POLYPOSIS 
MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview
《World Journal of Gastrointestinal Oncology》2023年第11期1891-1899,共9页Lupe Sanchez-Mete Lorenzo Mosciatti Marco Casadio Luigi Vittori Aline Martayan Vittoria Stigliano 
BACKGROUND The presence of Spigelman stage(SS)IV duodenal polyposis is considered the most significant risk factor for duodenal cancer in patients with MUTYH-associated polyposis(MAP).However,advanced SS disease is ra...
关键词：MUTYH-associated polyposis Duodenal adenomatosis Duodenal cancer Endoscopic management Case report 
Polyposis found on index colonoscopy in a 56-year-old female-BMPR1A variant in juvenile polyposis syndrome:A case report
《World Journal of Gastrointestinal Endoscopy》2023年第10期623-628,共6页Michael Yulong Wu Christopher Toon Michael Field May Wong 
BACKGROUND Juvenile polyposis syndrome(JPS)is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene.It often manifests with symptoms in children and a...
关键词：Juvenile polyposis syndrome POLYPS Colorectal polyp Hereditary polyposis Cancer Case report 
Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
《Genes & Diseases》2023年第4期1187-1189,共3页Giovanna Forte Filomena Cariola Antonia Lucia Buonadonna Anna Filomena Guglielmi Andrea Manghisi Katia De Marco Valentina Grossi Candida Fasano Martina Lepore Signorile Paola Sanese Rosanna Bagnulo Nicoletta Resta b Vittoria Disciglio Cristiano Simone 
funded by the research funding program“Ricerca Corrente 2019e2021,2021-2023”to Cristiano Simone,“Ricerca Corrente 2022-2024”to Vittoria Disciglio,“Ricerca Corrente 2022-2024”to Candida Fasano,AIRC fellowship for Italy“ID.26678-2021”to Martina Lepore Signorile,“Starting Grant”SG-2019-12371540 to Paola Sanese from the Italian Ministry of Health and the 2017 PRIN(Research Projects of National Relevance)n.2017WNKSLr-LS4 from the Italian MIUR to Cristiano Simone.
Familial adenomatous polyposis(FAP)and MUTYH-associ-ated polyposis(MAP)are colon cancer predisposition syn-dromes.FAP is an autosomal dominant inherited condition caused by germline mutations in the adenomatous polypo...
关键词：POLYPOSIS adenomatous COLON 
Synchronous rectal adenocarcinoma and intestinal mantle cell lymphoma:A case report
《World Journal of Clinical Cases》2023年第24期5772-5779,共8页Kim-Van Vu Nguyen-Van Trong Nguyen-Thi Khuyen Do Huyen Nga Hoang Anh Nguyen Tien Trung PhamTrung Thong Nguyen Minh Duc 
BACKGROUND Mantle cell lymphoma(MCL)of the gastrointestinal tract is a rare malignancy,accounting for about 0.2%of malignant colorectal tumors.MCL synchronous with rectal adenocarcinoma is extremely rare.We know of on...
关键词：Mantle cell lymphoma Multiple lymphomatous polyposis Rectal adenocarcinoma SYNCHRONOUS Gastrointestinal tract Case report 
Wnt genes in colonic polyposis predisposition
《Genes & Diseases》2023年第3期753-757,共5页Isabel Quintana Mariona Terradas Pilar Mur Iris B.A.Wte Paske Sophia Peters Isabel Spier Verena Steinke-Lange Claudia Maestro David Torrents Montserrat Puiggròs Romina Royo Raul Tonda Genís Parra Davide Piscia Sergi Beltrán Matilde Navarro Virginia Piñol Joan Brunet Noemi Gonzalez-Abuin Gemma Aiza Anna Sommer Yasmijn van Herwaarden Galuh Astuti Elke Holinski-Feder Nicoline Hoogerbrugge Richarda Mde Voer Stefan Aretz Gabriel Capellá Laura Valle 
funded by the Spanish Ministry of Science and Innovation(Agencia Estatal de Investigación);co-funded by FEDER funds a way to build Europe[No.SAF2016-80888-R(LV),PID2020-112595RB-I00(LV),and PID2019-111254RB-I00(GC),and predoctoral fellowship“Formación de Personal Investigador”(IQ)];Instituto de Salud Carlos III[CIBERONC CB16/12/00234,Sara Borrell Postdoctoral contract(PM)];Government of Catalonia,Spain[PERIS MedPerCan,AGAUR 2017SGR1282,CERCA Program for institutional support];Scientific Foundation“Asociación Española Contra el Cáncer”[AECC Investigador(MT)];Marie Skłodowska-Curie Individual Fellowship[Organ-VIP,Grant agreement No.897064(NG-A)];The Solve-RD project is funded by the European Union's Horizon 2020 research and innovation program under grant agreement No.779257;This study was supported by the European Reference Network on Genetic Tumor Risk Syndromes(ERN GENTURIS)-Project ID No.739547(www.genturis.eu);the COST action CA17118;supported by COST(European Cooperation in Science and Technology).
Much of the genetic predisposition to polyposis,and particularly to serrated polyposis(SP),remains unknown.Only germline pathogenic variants in RNF43,a tumor suppressor that exerts negative feedback in the Wnt/β-cate...
关键词：POLYPOSIS SUPPRESSOR COLORECTAL 
Clinical characteristics and treatments of cap polyposis:a single center case series
《Gastroenterology Report》2023年第1期554-556,共3页Yanhua Zhou Rui Cheng Ningning Dong Ying Meng Chuntao Liu Ye Zong 
Introduction Cap polyposis is a rare benign disease of the digestive tract,characterized by inflammatory polyps with a cap of inflammatory granulation tissue.First described in 1985 by Williams et al.[1],cap polyposis...
关键词：POLYPOSIS CLINICAL 
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