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Cumulative incidence and risk factors for pouch adenomas associated with familial adenomatous polyposis following restorative proctocolectomy

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World Journal of Gastroenterology 2022年第30期28卷 4152-4162页

作者： Hyo Seon Ryu Chang Sik Yu Young Il Kim Jong Lyul Lee Chan Wook Kim Yong Sik Yoon In Ja Park Seok-Byung Lim Jin Cheon Kim Division of Colon and Rectal Surgery Department of SurgeryUniversity of Ulsan College of MedicineAsan Medical CenterSeoul 05505South Korea

BACKGROUND The emergence of restorative total proctocolectomy has significantly reduced the lifetime colorectal cancer risk associated with familial adenomatous polyposis(FAP).However,adenomas may develop in the ileal pouch over time and may even progress to carcinoma.We evaluated the cumulative incidence,time to development,and risk factors associated with ileal pouch adenoma.AIM To evaluate the cumulative incidence,time to development,and risk factors associated with pouch adenoma.METHODS In this retrospective,observational study conducted at a tertiary center,95 patients with FAP who underwent restorative proctocolectomy at our center between 1989 and 2018 were consecutively included.The mean follow-up period was 88 mo.RESULTS Pouch adenomas were found in 24(25.3%)patients,with a median time of 52 mo to their first formation.Tubular adenomas were detected in most patients(95.9%).There were no high-grade dysplasia or malignancies.Of the 24 patients with pouch adenomas,13 had all detected adenomas removed.Among the 13 patients who underwent complete adenoma removal,four(38.5%)developed recurrence.Among 11(45.8%)patients with numerous polyps within the pouch,seven(63.6%)exhibited progression of pouch adenoma.The cumulative risks of pouch adenoma development at 5,10,and 15 years after pouch surgery were 15.2%,29.6%,and 44.1%,respectively.Severe colorectal polyposis(with more than 1000 polyps)was a significant risk factor for pouch adenoma development(hazard ratio,2.49;95% confidence interval:1.04-5.96;P=0.041).CONCLUSION Pouch adenomas occur at a fairly high rate in association with FAP after restorative proctocolectomy,and a high colorectal polyp count is associated with pouch adenoma development.

关键词： adenomatous polyposis coli familial adenomatous polyposis Adenoma Intestinal polyps Proctocolectomy,restorative Ileal pouch anal anastomosis

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familial adenomatous polyposis and changes in the gut microbiota: New insights into colorectal cancer carcinogenesis

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World Journal of Gastrointestinal Oncology 2021年第6期13卷 495-508页

作者： Antonio Biondi Francesco Basile Marco Vacante Department of General Surgery and Medical-Surgical Specialties University of CataniaCatania 95123Italy Multidisciplinary Research Center for Rare Diseases University of CataniaCatania 95123Italy

Patients with familial adenomatous polyposis(FAP),an autosomal dominant hereditary colorectal cancer syndrome,have a lifetime risk of developing cancer of nearly 100%.Recent studies have pointed out that the gut microbiota could play a crucial role in the development of colorectal adenomas and the consequent progression to colorectal cancer.Some gut bacteria,such as Fusobacterium nucleatum,Escherichia coli,Clostridium difficile,Peptostreptococcus,and enterotoxigenic Bacteroides fragilis,could be implicated in colorectal carcinogenesis through different mechanisms,including the maintenance of a chronic inflammatory state,production of bioactive tumorigenic metabolites,and DNA damage.Studies using the adenomatous polyposis coliMin/+mouse model,which resembles FAP in most respects,have shown that specific changes in the intestinal microbial community could influence a multistep progression,the intestinal“adenoma-carcinoma sequence”,which involves mucosal barrier injury,low-grade inflammation,activation of the Wnt pathway.Therefore,modulation of gut microbiota might represent a novel therapeutic target for patients with FAP.Administration of probiotics,prebiotics,antibiotics,and nonsteroidal anti-inflammatory drugs could potentially prevent the progression of the adenoma-carcinoma sequence in FAP.The aim of this review was to summarize the best available knowledge on the role of gut microbiota in colorectal carcinogenesis in patients with FAP.

关键词： familial adenomatous polyposis Microbiota Colorectal cancer Polyps Carcinogenesis Bacteria

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Hsa_circ_0036740 in familial adenomatous polyposis:Immune regulation and neutrophil effects in CRC based on highthroughput assay

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BIOCELL 2023年第11期47卷 2409-2422页

作者： ZHIWANG LI HAN YU YUPING LIU WEISHENG WU HAIJING ZENG EN LI Department of Gastrointestinal Surgery Meizhou People’s HospitalMeizhou514031China

familial adenomatous polyposis(FAP)is an autosomal dominant disease with a high probability of becoming cancerous.Many RNAs potentially associated with FAP have not been identified.In this study,a circRNA(circular RNA)expression profile of FAP was established using a circRNA microarray,and differentially expressed circRNAs were verified by RT-qPCR.The effects of hsa_circ_0036740 on the malignant behavior of tumor cells(proliferation,apoptosis,and epithelial mesenchymal transition)and the levels of C3A complement protein expression were evaluated.Moreover,neutrophils were isolated and co-cultured with colorectal cancer cells(CRCs),followed by measurements of MPO-DNA,citrullinated histone H3,interleukin(IL)-1β,IL-6,and IL-8 levels.Nuclear translocation of arginine deiminase 4(PAD4)was observed using immunofluorescence assays.Based on the high-throughput assay,238 downregulated circRNAs,and 38 upregulated circRNAs were identified.A Kyoto Encyclopedia of Genes and Genomes enrichment analysis suggested that immune regulation might be involved in FAP.A total of 10 DECs(differentially expressed circular RNAs)were identified by RT-qPCR,and among them,hsa_circ_0036740 showed the highest fold-change in upregulation.Results of gain-of-and loss-of-function studies revealed that hsa_circ_0036740 enhanced the malignant behavior of tumor cells,such as metastasis,proliferation,and apoptosis,with an increasing level of C3A complement.Moreover,hsa_circ_0036740 also significantly increased neutrophil extracellular trap formation and inflammation in neutrophils,as shown by an increased expression of PAD4.In conclusion,this study revealed the expression profiles of circRNAs in FAP and confirmed the possible involvement of hsa_circ_0036740 in the immune regulation mediated by neutrophils.Finally,hsa_circ_0036740 was suggested as a new therapeutic target for CRC.

关键词： familial adenomatous polyposis Colorectal cancer Hsa_circ_0036740 Neutrophil extracellular trap Metastasis

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APC gene mutations in Chinese familial adenomatous polyposis patients

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World Journal of Gastroenterology 2010年第12期16卷 1522-1526页

作者： Sheng, Jian-Qiu Cui, Wei-Jia Fu, Lei Jin, Peng Han, Ying Li, Shu-Jun Fan, Ru-Ying Li, Ai-Qin Zhang, Ming-Zhi Li, Shi-Rong Gen Hosp Beijing Mil Reg Dept Gastroenterol Beijing 100700 Peoples R China Zhengzhou Univ Affiliated Hosp 1 Dept Oncol Zhengzhou 450052 Henan Province Peoples R China

AIM:To study the characteristics of APC(adenomatous polyposis coli)gene germline mutation in Chinese patients with familial adenomatous polyposis(FAP).METHODS:APC gene from 14 FAP families was amplified by polymerase chain reaction(PCR)and underwent direct sequencing to determine the micromutation type.For the samples without micromutation,the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification(MLPA).RESULTS:There were gene micromutations in 9 families with a micromutation detection rate of 64.3%(9/14),including 6 frameshift mutations(66.7%),1 nonsense mutation(11.1%)and 2 splicing mutations(22.2%).Large fragment deletions were detected by MLPA in 2 families.The total mutation detection rate of micromutations and large fragment deletions was 78.6%(11/14).CONCLUSION:The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.

关键词： adenomatous polyposis coli gene familial adenomatous polyposis Large fragment deletion Multiplex ligation-dependent probe amplification Mutation

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familial adenomatous polyposis

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Chinese Journal of Cancer Research 1999年第1期11卷 55-55页

作者：徐宁丁彦青徐莉 Department of pathology First Military Medical University Guangzhou China Department of Parasite First Military Medical University Guangzhou China

ClinicalHistoryA41-year-oldfemalewasadmittedintoNanFangHospitalforsevereabdominalpainwithbloody-mucoidstoolforamonth.Thesymptomsstartedayearagowithoutobviouscausesandshedidnothaveanysystemictreatment.Thepatientfeltfat... 详细信息

关键词： Adenoma familial adenomatous polyposis Malignant Change Villous Adenoma familial polyposis

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Adenocarcinomas after Prophylactic Surgery for familial adenomatous polyposis

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Journal of Cancer Therapy 2013年第1期4卷 260-270页

作者： Joan C.Smith Michael W.Schaffer Billy R.Ballard Duane T.Smoot Alan J.Herline Samuel E.Adunyah Amosy E.M’Koma Laboratory of Inflammatory Bowel Disease Research Division of Biomedical SciencesDepartment of Biochemistry and Cancer BiologyMeharry Medical College School of MedicineNashvilleTennessee Department of Pathology Meharry Medical School of MedicineNashvilleTennessee Department of Internal Medicine Meharry Medical College School of MedicineNashvilleTennessee Department of General Surgery Vanderbilt University School of MedicineNashvilleTennessee Vanderbilt-Ingram Cancer Center Vanderbilt University School of MedicineNashvilleTennessee.

The incidence of familial adenomatous polyposis (FAP) is one in 7,000 to 12,000 live births. Virtually, all surgically untreated patients with FAP inevitably develop colorectal-cancer in their lifetime because they carry the adenomatous polyposis coli gene. Thus prophylactic proctocolectomy is indicated. Surgical treatment of FAP is still controversial. There are however, four surgical options: ileorectal anastomosis, restorative proctocolectomy with ileal pouch-anal anastomosis, proctocolectomy with ileostomy, and proctocolectomy with continent-ileostomy. Conventional proctocolectomy options largely lie between colectomy with ileorectal anastomosis or ileal pouch-anal anastomosis. Detractors of ileal pouch-anal anastomosis prefer ileorectal anastomosis because of better functional results and quality of life. The functional outcome of total colectomy with ileorectal anastomosis is undoubtedly far superior to that of the ileoanal pouch;however, the risk for rectal cancer is increased by 30%. Even after mucosectomy, inadvertent small mucosal residual islands remain. These residual islands carry the potential for the development of subsequent malignancy. We reviewed the literature (1975-2012) on the incidence, nature, and possible etiology of subsequent ileal-pouch and anal transit zone adenocarcinoma after prophylactic surgery procedure for FAP. To date there are 24 studies reporting 92 pouch-related cancers;15 case reports, 4 prospective and 5 retrospective studies. Twenty three of 92 cancers (25%) developed in the pouch mucosa and 69 (75%) in anal transit zone (ATZ). Current recommendation for pouch surveillance and treatment are presented. Data suggest lifetime surveillance of these patients.

关键词： familial adenomatous polyposis Restorative Proctocolectomy Ileal Pouch-Anal Anastomosis Ileorectal Anastomosis Adenocarcinomas

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Presence of c.3956del C mutation in familial adenomatous polyposis patients from Brazil

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World Journal of Gastroenterology 2015年第31期21卷 9413-9419页

作者： Caroline Aquino Moreira-Nunes Diego di Felipe ávila Alcantara Sérgio Figueiredo Lima-Júnior Sandro Roberto de Araújo Cavalléro Juan Antonio Rey Giovanny Reboucas Pinto Paulo Pimentel de Assumpcao Rommel Rodriguez Burbano Biological Science Institute Federal University of Pará Nucleus of Research in Oncology Federal University of Pará Molecular Neuro-oncogenetics Laboratory Research Unit-Unidad de InvestigaciónHospital Universitario La Paz Genetics and Molecular Biology Laboratory Federal University of Piaui

AIM: To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed with familial adenomatous polyposis(FAP) in northern Brazil. METHODS: A total of 15 individuals diagnosed with FAP from 5 different families from the north of Brazil were analyzed in this study. In addition to patients with histopathological diagnosis of FAP,family members who had not developed the disease were also tested in order to identify mutations and for possible genetic counseling. All analyzed patients or their guardians signed a consent form approved by the Research Ethics Committee of the Jo?o de Barros Barreto University Hospital(Belem,Brazil). DNA extracted from the peripheral blood of a member of each of the affected families was subjected to direct sequencing. The proband of each family was sequenced to identify germline mutations using the Ion Torrent platform. To validate the detected mutations,Sanger sequencing was also performed. The samples from all patients were also tested for the identification of mutations by real-time quantitative polymerase chain reaction using the amplification refractory mutation system. RESULTS: Through interviews with relatives and a search of medical records,it was possible to construct genograms for three of the five families included in the study. All 15 patients from the five families with FAP exhibited mutations in the APC gene,and all mutations were detected in exon 15 of the APC gene. In addition to the patients with a histological diagnosis of FAP,family members without disease symptoms showed the mutation in the APC gene. In the present study,we detected two of the three most frequent germline mutations in the literature: the mutation at codon 1309 and the mutation at codon 1061. The presence of c.3956 del C mutation was found in all families from this study,and suggests that this mutation was introduced in the population of the State of Pará through ancestor immigration(i.e.,a de novo mutation that arose in one member belonging to this state from Braz

关键词： familial adenomatous polyposis APC Torrent sequencing Colorectal cancer

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Dual primary gastric and colorectal cancer:The known hereditary causes and underlying mechanisms

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World Journal of Gastrointestinal Oncology 2024年第6期16卷 2264-2270页

作者： Samy A Azer Medical Education and Medicine King Saud University College of MedicineRiyadh 11461Saudi Arabia

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 synchronous and metachronous cancers in patients with dual primary gastric and colorectal cancer(CRC).The authors concluded the necessity for regular surveillance for metachronous cancer during postoperative follow-up and reported the prognosis is influenced by the gastric cancer(GC)stage rather than the CRC stage.Although surveillance was recommended in the conclusion,the authors did not explore this area in their study and did not include tests used for such surveillance.This editorial focuses on the most characterized gastrointestinal cancer susceptibility syndromes concerning dual gastric and CRCs.These include hereditary diffuse GC,familial adenomatous polyposis,hereditary nonpolyposis colon cancer,Lynch syndrome,and three major hamartomatous polyposis syndromes associated with CRC and GC,namely Peutz-Jeghers syndrome,juvenile polyposis syndrome,and PTEN hamartoma syndrome.Careful assessment of these syndromes/conditions,including inheritance,risk of gastric and colorectal or other cancer development,genetic mutations and recommended genetic investigations,is crucial for optimum management of these patients.

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

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Duodenal adenoma surveillance in patients with familial adenomatous polyposis

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World Journal of Gastrointestinal Endoscopy 2015年第10期7卷 950-959页

作者： Fábio Guilherme Campos Marianny Sulbaran Adriana Vaz Safatle-Ribeiro Carlos Augusto Real Martinez Gastroenterology Department Hospital das Clínicas University of Sao Paulo Medical School Gastroenterology Department University of Sao Paulo Medical School Colorectal Division State University of Campinas (UNICAMP Sao Paulo) Postgraduate Program in Health Sciences at San Francisco University

familial adenomatous polyposis(FAP) is a hereditary disorder caused by adenomatous polyposis Gene mutations that lead to the development of colorectal polyps with great malignant risk throughout life. Moreover, numerous extracolonic manifestations incorporate different clinical features to produce varied individual phenotypes. Among them, the occurrence of duodenal adenomatous polyps is considered an almost inevitable event, and their incidence rates increase as a patient's age advances. Although the majority of patients exhibit different grades of duodenal adenomatosis as they age, only a small proportion(1%-5%) of patients will ultimately develop duodenal carcinoma. Within this context, the aim of the present study was to review the data regarding the epidemiology, classification, genetic features, endoscopic features, carcinogenesis, surveillance and management of duodenal polyps in patients with FAP.

关键词： familial adenomatous polyposis Adenoma Duodenum Surveillance Endoscopy Digestive system

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Novel mutation of APC gene in a large familial adenomatous polyposis kindred

Novel mutation of APC gene in a large familial adenomatous p...

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2013浙江省医学遗传学学术年会

作者： Xu Xiangrong Li Lejun Yu Ping Qi Ming Jin Fana Department of Reproductive Endocrinology Key Laboratory of Reproductive GeneticsMinistry of Educationand Women's Reproductive Health Laboratory of Zhejiang ProvinceWomen's HospitalZhejiang University School of Medicine Zhejiang University School of Medicine FACMG Center for Genetic and Genomic MedicineSchool of MedicineZhejiang University Women's Hospital Zhejiang University School of Medicine

familial adenomatous polyposis is caused by germline mutation of the adenomatous polyposis coli(APC) gene.Affected individuals develop hundreds of colorectal adenomas at young age and can have extracolonic lesions.This study first sequenced DNA samples obtained from the proband III—17 using Microarray-based next-generation sequencing.According to the finding of mutation in the FAP patients,PCR,sequencing and enzymatic analyses were carried out.The family with familial adenomatous polyposis were also evaluated us- ing three linked STR markers of the APC gene D5S299,D5S134 and D5S346.A unique mutation W553X was identified.All of FAP patients shared the same haplotype of A1B4C1.No A1B4C1 haplotype was found in healthy kindred of the family except 111-13.

关键词： APC gene mutation familial adenomatous polyposis

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