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Genes & Diseases 2024年第2期11卷 524-527页

作者： Noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Department of Immunology and Oncology National Center for BiotechnologySpanish National Research Council (CNB-CSIC)Madrid 28049Spain Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid 28029Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Division of Clinical Cancer Genomics Department of Medical Oncology & Therapeutic ResearchCity of Hope National Cancer CenterDuarteCA 91010USA

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 syndrome(PHTS)-like patients with wildtype PTEN.1 More specifically,heterozygous,potentially activating wwP1 variants were first identified by Lee et al in patients affected with gastrointestinal oligopolyposis,including adenomatous,hyperplastic/serrated,and hamartomatous polyps,and occasionally with colorectal cancer(Table 1).Subsequently,based on the PHTS phenotypic features,wWP1 mutational screening was performed in patients with thyroid nodules,2 or normocephalic autism spectrum disorder(ASD),3 where germline WWP1 variants were also identified(Table S1).

关键词： WWP1 gastrointestinal polyposis

Wnt genes in colonic polyposis predisposition

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Genes & Diseases 2023年第3期10卷 753-757页

作者： 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 Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Centro de Investigación Biomédica en Red de Cáncer(CIBERONC) Madrid 28029Spain Department of Human Genetics Radboud Institute for Molecular Life SciencesRadboud University Medical CenterGA Nijmegen 6525the Netherlands Member of SOLVE-RD ERN-GENTURIS Institute of Human Genetics Medical FacultyUniversity of BonnBonn 53127Germany National Center for Hereditary Tumor Syndromes University Hospital BonnBonn 53127Germany Medizinische Klinik Und Poliklinik IV Campus InnenstadtKlinikum Der Universität MünchenMunich 80336Germany MGZ-Medizinisch Genetisches Zentrum Munich 80335Germany Life Sciences Department Barcelona Supercomputing Center(BSC)Barcelona 08034Spain ICREA Barcelona 08010Spain CNAG-CRG Centre for Genomic Regulation(CRG)Barcelona Institute of Science and TechnologyBarcelona 08028Spain Universitat Pompeu Fabra(UPF) Barcelona 08002Spain Department of Genetics Microbiology and StatisticsSchool of BiologyUniversitat de Barcelona(UB)Barcelona 08028Spain Gastroenterology Unit Hospital Universitario de Girona Dr Josep TruetaGirona 17007Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Department of Gastroenterology and Hepatology Radboud University Medical CenterGA Nijmegen 6525the Netherlands Department of Human Genetics Radboud University Medical CenterGA Nijmegen 6525the Netherlands

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-catenin signaling pathway,have been causally linked to some SP cases(polyposis genes affect DNA repair,BMP/TGF-β,or Wnt signaling,being the latter associated with adenomatous and serrated polyposis phenotypes.2 Based on this observation,we evaluated the presence and role of germline variants in those pathways in unsolved polyposis patients.

关键词： polyposis suppressor colorectal

Re-recognition of BMPR1A-related polyposis:beyond juvenile polyposis and hereditary mixed polyposis syndrome

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Gastroenterology Report 2023年第1期11卷 209-215页

作者： Zi-Ye Zhao Ye Lei Zhao-Ming Wang Huan Han Jun-Jie Xing Xiao-Dong Xu Xian-Hua Gao Wei Zhang En-Da Yu Department of Colorectal Surgery and Hereditary Colorectal Cancer Registry Changhai HospitalShanghaiP.R.China Department of General Surgery Eastern Theater Naval Hospital of Chinese PLAZhoushanZhejiangP.R.China Department of Pathology Changhai HospitalShanghaiP.R.China

Background Bone morphogenetic protein receptor type 1A(BMPR1A)is responsible for two individual Mendelian diseases:juvenile polyposis syndrome and hereditary mixed polyposis syndrome 2,which have overlapping phenotypes.This study aimed to elucidate whether these two syndromes are just two subtypes of a single syndrome rather than two isolated syndromes.Methods We sequenced the BMPR1A gene in 186 patients with polyposis and colorectal cancer,and evaluated the clinicopathological features and phenotypes of the probands and their available relatives with BMPR1A mutations.Results BMPR1A germline mutations were found in six probands and their three available relatives.The numbers of frameshift,nonsense,splice-site,andmissensemutations were one,one,two,and two,respectively;two of the sixmutations were novel.Typical juvenile polyps were found in only three patients.Two patients had colorectal cancer rather than any polyps.Conclusions Diseases in BMPR1A germline mutation carriers vary from mixed polyposis to sole colorectal cancer,and typical juvenile polyps do not always occur in these carriers.The variety of phenotypes reflected the features of BMPR1Amutation carriers,which should be recognized as a spectrum of one syndrome.Genetic testing may be a good approach to identifying BMPR1A-related syndromes.

关键词： BMPR1A gene juvenile polyposis syndrome hereditary mixed polyposis syndrome hamartoma polyposis

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes

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Genes & Diseases 2023年第4期10卷 1187-1189页

作者： 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 Medical Genetics National Institute of Gastroenterology“S.de Bellis”Research HospitalCastellana GrotteBari 70013Italy Medical Genetics Department of Precision and Regenerative Medicine and Jonic Area(DiMePRe-J)University of Bari Aldo MoroBari 70124Italy

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... 详细信息

关键词： polyposis adenomatous colon

Clinical characteristics and treatments of cap polyposis:a single center case series

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Gastroenterology Report 2023年第1期11卷 554-556页

作者： Yanhua Zhou Rui Cheng Ningning Dong Ying Meng Chuntao Liu Ye Zong Department of Gastroenterology Beijing Friendship HospitalCapital Medical UniversityNational Clinical Research Center for Digestive DiseaseBeijingP.R.China

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 is now still introduced in case reports.The clinical course and pathogenesis of this disease are yet to be elucidated and specific therapies have not been established.

关键词： polyposis clinical

Protein-losing pseudomembranous colitis with cap polyposis-like features

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World Journal of Gastroenterology 2017年第16期23卷 3003-3010页

作者： Wolfgang Kreisel Guenther Ruf Richard Salm Adhara Lazaro Bertram Bengsch Anna-Maria Globig Paul Fisch Silke Lassmann Annette Schmitt-Graeff Department of Medicine II GastroenterologyHepatologyEndocrinology and Infectious DiseasesMedical CenterUniversity of FreiburgFaculty of MedicineUniversity of Freiburg79106 FreiburgGermany Department of General and Visceral Surgery Center for SurgeryUniversity of FreiburgFaculty of MedicineUniversity of Freiburg79106 FreiburgGermany Department of Surgery RKK Bruder-Klaus-Krankenhaus79183 WaldkirchGermany Institute for Exercise and Occupational Medicine Center for MedicineMedical Center-University of FreiburgFaculty of MedicineUniversity of Freiburg79106 FreiburgGermany Silke Lassmann Annette Schmitt-GraeffInstitute of Surgical PathologyMedical Center and Faculty of MedicineUniversity of Freiburg79106 FreiburgGermany

Protein-losing enteropathy(PLE) is characterized by loss of serum proteins into the gastrointestinal tract. It may lead to hypoproteinemia and clinically present as protein deficiency edema, ascites, pleural or pericardial effusion and/or malnutrition. In most cases the site of protein loss is the small intestine. Here we present an unusual case of severe PLE in a 55-year old female with a one-year history of recurrent diarrhea, crampy abdominal pain, and peripheral edema. Endoscopy and MRI showed a diffuse inflammatory thickening of the sigmoid colon and the rectum. Surgical resection of the involved colon was performed and the symptoms were significantly resolved. The final histologic evaluation confirmed a diagnosis of a pseudomembranous colitis with cap polyposis-like features. Such a cause of PLE has never been described before.

关键词： Protein-losing enteropathy Cap polyposis Ulcerative colitis Goblet cells Pseudomembranes

FANCA D1359Y mutation in a patient with gastric polyposis and cancer susceptibility: A case report and review of literature

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World Journal of Gastroenterology 2018年第38期24卷 4412-4418页

作者： Jeffrey Peng Huang Johnson Lin Chi-Yuan Tzen Wen-Yu Huang Chia-Chi Tsai Chih-Jen Chen Yen-Jung Lu Kuei-Fang Chou Ying-Wen Su Division of Hematology and Medical Oncology Department of Internal Medicine Mackay Memorial Hospital Department of Pathology Mackay Memorial Hospital Laboratory of Good Clinical Research Center Mackay Memorial Hospital Tamsui Branch Department of General Surgery Mackay Memorial Hospital Division of Gastroenterology Department of Internal Medicine Mackay Memorial Hospital ACT Genomics Co. Ltd.

Gastric polyposis is a rare disease. Not all polyps progress to cancer. Monoallelic mutation in Fanconi anemia(FA) genes, unlike biallelic gene mutations that causes typical FA phenotype, can increase risks of cancers in a sporadic manner. Aberrations in the FA pathway were reported in all molecular subtypes of gastric cancer. We studied a patient with synchronous gastric cancer from gastric polyposis by conducting a 13-year long-term follow up. Via pathway-driven massive parallel genomic sequencing, a germline mutation at FANCA D1359Y was identified. We identified several recurrent mutations in DNA methylation(TET1, V873I), the β-catenin pathway(CTNNB1, S45F) and RHO signaling pathway(PLEKHG5, R203C) by comparing the genetic events between benign and malignant gastric polyps. Furthermore, we revealed gastric polyposis susceptible genes and genetic events promoting malignant transformation using pathway-driven targeted gene sequencing.

关键词： Gastric polyposis Gastric cancer Adenocarcinoma Fanconi’s anemia Malignant transformation

Current status of the genetic susceptibility in attenuated adenomatous polyposis

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World Journal of Gastrointestinal Oncology 2019年第12期11卷 1101-1114页

作者： Víctor Lorca Pilar Garre Laboratorio de Oncología Molecular Grupo de Investigación Clínica y Traslacional en OncologíaHospital Clínico San CarlosMadrid 28040Spain Laboratorio de Oncología Molecular Servicio de OncologíaHospital Clínico San CarlosMadrid 28040Spain

Adenomatous polyposis(AP)is classified according to cumulative adenoma number in classical AP(CAP)and attenuated AP(AAP).Genetic susceptibility is the major risk factor in CAP due to mutations in the known high predisposition genes APC and MUTYH.However,the contribution of genetic susceptibility to AAP is lower and less understood.New predisposition genes have been recently proposed,and some of them have been validated,but their scarcity hinders accurate risk estimations and prevalence calculations.AAP is a heterogeneous condition in terms of severity,clinical features and heritability.Therefore,clinicians do not have strong discriminating criteria for the recommendation of the genetic study of known predisposition genes,and the detection rate is low.Elucidation and knowledge of new AAP high predisposition genes are of great importance to offer accurate genetic counseling to the patient and family members.This review aims to update the genetic knowledge of AAP,and to expound the difficulties involved in the genetic analysis of a highly heterogeneous condition such as AAP.

关键词： Attenuated adenomatous polyposis Genetic susceptibility High predisposition gene Genetic heterogeneity Colorectal cancer

ALK-positive anaplastic large cell lymphoma presenting multiple lymphomatous polyposis: A case report and literature review

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World Journal of Clinical Cases 2019年第15期7卷 2049-2057页

作者： Makoto Saito Koh Izumiyama Reiki Ogasawara Akio Mori Takeshi Kondo Masanori Tanaka Masanobu Morioka Kencho Miyashita Mishie Tanino Department of Internal Medicine and Hematology Aiiku HospitalSapporo 0640804Japan Department of Gastroenterology Aiiku HospitalSapporo 0640804Japan Department of Surgical Pathology Asahikawa Medical University Hospital(formerly Department of Cancer PathologyHokkaido UniversityFaculty of Medicine)Asahikawa 0788510Japan

BACKGROUND Anaplastic large cell lymphoma(ALCL)is a type of T-cell lymphoma that can be divided into two categories:anaplastic lymphoma kinase-positive(ALK+)and ALK-negative.Gastrointestinal ALK+ALCL is rare.Multiple lymphomatous polyposis(MLP)is thought to be a representative form of gastrointestinal lesion in mantle cell lymphoma,and T-cell lymphomas seldom show this feature.Here,we report the first known case of ALK+ALCL with gastroduodenal involvement to present with MLP.CASE SUMMARY The patient was a 43-year-old man who was complained of a mass in the left inguinal area and was performed open biopsy.ALK+ALCL was diagnosed pathologically.Computed tomography scan demonstrated multiple lymph node lesions in the abdomen-pelvis/inguinal region,and scattered nodular lesions in both lung fields.He did not complain of gastrointestinal symptoms.While,esophagogastroduodenoscopy identified MLP lesions from the antrum of the stomach to the descending portion of the duodenum and mild thickened folds on the corpus of the stomach,and biopsy showed invasion of ALK+ALCL.We treated this patient with six cycles of CHOEP(Cyclophosphamide,Doxorubicin,Vincristine,Etoposide,and Prednisone)chemotherapy.At the conclusion of treatment,there was complete remission.Numerous white scars were found on the stomach,endoscopically consistent with a remission image of lymphoma.The endoscopic features of this case were thought to be similar to those of MCL.CONCLUSION The macroscopic/endoscopic features of gastrointestinal ALK+ALCL may be more similar to those of B-cell lymphomas rather than T-cell lymphomas.

关键词： Anaplastic large-cell lymphoma Anaplastic lymphoma kinase Multiple lymphomatous polyposis T-cell lymphoma Gastrointestinal involvement

Gastric and duodenal polyps in familial adenomatous polyposis patients: Conventional endoscopy vs virtual chromoendoscopy(fujinon intelligent color enhancement) in dysplasia evaluation

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World Journal of Clinical Oncology 2017年第2期8卷 168-177页

作者： Gabriele Lami Andrea Galli Giuseppe Macrì Emanuele Dabizzi Maria Rosa Biagini Mirko Tarocchi Luca Messerini Rosa Valanzano Stefano Milani Simone Polvani Gastroenterology Research Unit Department of Experimental and Clinical Biomedical Sciences "Mario Serio"University of Florence Clinical Gastroenterology Unit Careggi University Hospital Gastroenterology and Gastrointestinal Endoscopy San Raffaele Hospital Division of Pathological Anatomy Department of Experimental and Clinical MedicineUniversity of Florence Surgical Unit Department of Translational Surgery and MedicineUniversity of Florence

AIM To test the fujinon intelligent color enhancement(FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis(FAP) patients.METHODS Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodenoscope(for side-viewing examination) were used by two expert examiners. Endoscopic resection was performed with diathermic loop for polyps ≥ 6 mm and with forceps for polyps < 6 mm. Formalin-fixed biopsy specimens were analyzed by two expert gastrointestinal pathologists blinded to size, location and number of FAPassociated fundic gland polyps.RESULTS Sixty-nine(90.8%) patients had gastric polyps(34 only in the corpus-fundus, 7 only in the antrum and 28 in the whole stomach) and 52(68.4%) in duodenum(7 in the bulb, 35 in second/third duodenal portion, 10 both in the bulb and the second portion of duodenum). In the stomach fundus after FICE evaluation, 10 more polyps were removed from 10 patients for suspicious features of dysplasia or adenomas, but they were classified as cystic fundic gland after histology. In the antrum FICE identified more polyps than traditional endoscopy, showing a better tendency to identify adenomas and displastic areas. In the duodenum FICE added a significant advantage in identifying adenomas in the bulb and identified more polyps in the Ⅱ/Ⅲ portion.CONCLUSION FICE significantly increases adenoma detection rate in FAP patients but does not change any Spigelman stage and thus does not modify patient's prognosis and treatment strategies.

关键词： Fujinon intelligent color enhancement Familial adenomatous polyposis Spigelman Endoscopy Polyp Adenoma Stomach Duodenum