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

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.

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

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.

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

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.

Clinicopathological features of familial adenomatous polyposis in Korean patients

AIM: To identify prognostic factors and to correlate APC mutations with clinical features, including extracolic manifestations. METHODS: One hundred thirty-five patients who underwent surgical procedures for familial adenomatous polyposis(FAP) were included. FAP was diagnosed when the number of adenomatous polyps was > 100. Data related to patient, extracoloic manifestations, cancer characteristics, operative procedure, follow up and surveillance were collected. APC mutation testing was performed in the 30 most recent patients. DNA was extracted from peripheral blood and polymerase chain reaction products using 31 primer pairs on APC gene were sequenced. A retrospective study was performed to investigate a causal relationship between prognosis and feature of patient.RESULTS: The mean age of the 51 patients with colorectal cancer(CRC) was older than that of those without CRC(30.5 vs 36.9, P = 0.002). Older individuals were more likely to have colon cancer at the time of FAP diagnosis [odds ratio, 4.75(95%CI: 1.71-13.89) and 5.91(1.76-22.12) for 40-49 years and age > 50 vs age < 30). The number of confirmed deaths was 13 and the median age at death was 40 years(range, 27 to 85 years). Ten of the deaths(76.9%) were from CRC. Another cause of two cases of death were desmoid tumors(15.4%). Development of cancer on remnant rectal or ileal mucosa after surgery was not observed. The APC mutation testing revealed 23 pathogenic mutations and one likely pathogenic mutation, among which were four novel mutations. The correlation between mutational status and clinical manifestations was investigated. Mutations that could prodict poor prognosis were at codon 1309 which located on mutation cluster region, codon 1465 and codon 1507.CONCLUSION: Identification of APC mutations should aid in the diagnosis and counseling of family members in terms of early diagnosis and management of FAP.

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

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 Brazil). CONCLUSION: Regardless of its origin,the c.3956 del C mutation is a strong candidate biomarker of this hereditary cancer syndrome in families of northern Brazil.

Current status of the genetic susceptibility in attenuated adenomatous polyposis

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.

Three Novel Mutations of APC Gene Found in a Chinese Family with Familial Adenomatous Polyposis

Objective:To identify the causative adenomatous polyposis coli(APC)gene defects associated with a pedigree of familial adenomatous polyposis(FAP).Methods:FAP was diagnosed based on clinical manifestations,family history,as well as endoscopic and pathological examinations.The blood samples of the FAP pedigree members,colonic polyp patients,and normal individuals were collected.Genomic DNA was then extracted from those samples.APC mutation analysis was conducted via direct polymerase chain reaction(PCR)sequencing.Results:Three synonymous mutations and a missense mutation were found:c.5034G>A(p.Glyl678Gly),c.5465T>A(p.Vall 822Asp),c.5880G>A(p.Prol960Pro),and c.5274T>G(p.Serl758Ser)・Among them,the homozygous mutation on APC gene c.5034G>A has been reported,while the other three mutations have not been reported in the Chinese Han population.Individuals with c.5465T>A(p.Vall822ASP)missense mutation eventually suffer from colon cancer and have poor prognosis.We found no mutation in patients with simple intestinal polyp and in normal individuals.In addition,there were homozygous and heterozygous mutations in different patients from the same family.Conclusion:Three new mutations of APC gene were firstly reported in Han population.The missense mutation of c.5465T>A(p.Vall 822Asp)may be the cause of carcinogenesis in this FAP pedigree with poor prognosis.

Future therapeutic implications of new molecular mechanism of colorectal cancer

High incidence(10.2%)and mortality(9.2%)rates led to the ranking of colorectal cancer(CRC)as the second most malignant tumor spectrum worldwide in 2020.Treatment strategies are becoming highly dependent on the molecular characteristics of CRC.The classical theories accept two models depicting the origin of CRC:The progression of adenoma to cancer and transformation from serrated polyps to cancer.However,the molecular mechanism of CRC development is very complex.For instance,CRCs originating from laterally spreading tumors(LST)do not adhere to any of these models and exhibit extremely serious progression and poor outcomes.In this article,we present another possible pathway involved in CRC development,particularly from LST,with important molecular characteristics,which would facilitate the design of a novel strategy for targeted therapy.

Hereditary gastrointestinal polyposis: Diagnosis, genetic test and risk assessment

Colorectal cancer (CRC) is the second cause of cancer deaths, with over 1 million new cases estimated every year. Familial adenomatous polyposis, MUTYH-associated polyposis and hamartomatous polyposis are inherited syndromes that account for 2%-5% of all colon cancer. The mutated genes responsible for the vast majority of these disorders, are now known (MLH1, MSH2, MSH6, PMS2, APC, MYH, LKB1, SMAD4, BMPR1A, and PTEN) and specific mutations have been identified. Molecular caracterization of inherited CRCs allows pre-symptomatic diagnosis identifying at-risk individuals and improving cancer surveillance. Adenomatous polyposis includes familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP). Hamartomatous polyposis comprises Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS) and “PTEN hamartoma tumour syndrome” (PHTS). MAP is an autosomal recessive condition, while all other disorders are inherited in an autosomal dominant manner. Differential dyagnosis could be very difficult between syndromes because of their phenotypic variability. Attenuated FAP, MAP and Lynch syndrome could be all associated with fewer numbers of adenomas (3-10 polyps), nevertheless, each syndrome has distinct cancer risks, characteristic clinical features, and separate genetic etiologies. Thus, differential diagnosis is essential for correct management of the specific disease. In our laboratory we set up a methodology for genetic tests of the colorectal polyposis syndrome. In these reviews we summarize the literature data and our experience about diagnosis, genetic tests and cancer risk assesment associated with colorectal polyposis. According to literature data, in our experience, there is a portion of analyzing patients that remain without identified mutation, after molecular screening of the specific gene involved in the pathogenesis of the disease. Since the sensibility of used techniques, such as DHPLC, MLPA and sequencing, is now very high, we suggest that a different approach to molecular diagnosis of polyposis syndromes is necessary. In our laboratory, we are now planning to set up analysis of a larger pannel of genes that could be involved in colorectal poliposis syndromes, using a next generation sequencing techniques. In our opinion, a better characterization of molecular basis of the polyposis syndromes will allow a more efficient cancer prevention.

家族性腺瘤性息肉病的化学预防药物进展与展望

家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)是一种主要由APC基因胚系突变引起的遗传性结直肠癌综合征,表现为高发的结直肠腺瘤和接近100%的终身结直肠癌风险。早期内镜下筛查和预防性全结(直)肠切除术是FAP目前主要治疗方法。但该手术无法预防结肠外疾病,如十二指肠肿瘤、硬纤维瘤和甲状腺癌等,且对患者造成极大的心理和生理负担,影响生活质量。近年来,研究集中在化学预防药物上,目的是延缓疾病进展和推延肠道手术切除时机,同时减缓结肠外疾病的发展,降低手术相关硬纤维瘤的发生率。目前,FAP的化学预防还处于早期阶段,尚无药物被批准,未来需基于APC胚系突变的具体突变位点来指导安全有效的药物预防和治疗策略。本文旨在回顾FAP化学预防的相关文献和研究进展,以期对其有全面了解并为未来开展临床试验提供方向。

FAP癌变的危险因素分析及与COX-2、Survivin蛋白表达关系

目的探讨家族性腺瘤性息肉病(FAP)癌变危险因素,并分析环氧化酶-2(COX-2)、存活素(Survivin)蛋白表达水平在癌变过程中的作用,为防治FAP提供理论依据。方法回顾性分析笔者医院2014年1月~2018年1月确诊的73例FAP患者,根据患者有无癌变,分为FAP癌变组39例和FAP未癌变组34例,分析FAP相关结直肠癌发生的危险因素。免疫组化法检测病变组织COX-2、Survivin蛋白表达水平,分析其与FAP相关性。结果在73例患者中,39例经病理确诊发生癌变,癌变率为53.42%。癌变组患者的高危因素与性别无关(P>0.05),与发病年龄、腺瘤数量、腺瘤直径、腺瘤组织学类型有关,差异有统计学意义(P<0.05)。癌变组患者COX-2、Survivin蛋白表达阳性率分别为84.62%、74.36%,未癌变组COX-2、Survivin蛋白表达阳性率分别为61.76%、58.82%,癌变组患者COX-2及Survivin蛋白表达阳性率明显高于未癌变组,差异有统计学意义(P<0.05)。结论FAP患者恶变率与发病年龄、腺瘤数量、腺瘤直径、腺瘤组织学类型有关。COX-2、Survivin蛋白在癌变组患者中高表达,对于预测恶性结直肠癌早期病变有重要意义,可作为防治FAP的有效靶点。

腹腔镜与开腹全结直肠切除-回肠储袋肛管吻合术治疗男性家族性腺瘤性息肉病患者的效果比较

目的:比较腹腔镜与开腹全结直肠切除-回肠储袋肛管吻合术(TPC-IPAA)治疗男性家族性腺瘤性息肉病(FAP)患者的效果。方法:回顾性分析2019年6月至2021年6月该院收治的80例男性FAP患者的临床资料,按照治疗方式不同将其分为观察组和对照组各40例。观察组行腹腔镜TPC-IPAA治疗,对照组行开腹TPC-IPAA治疗,比较两组围术期指标(手术时间、术中出血量、最大切口长度、首次进食时间、住院时间)水平,术后1、3个月排尿功能、性功能(勃起功能、射精功能)Ⅰ级占比率,以及并发症发生率。结果:观察组手术时间长于对照组,术中出血量少于对照组,最大切口长度、首次进食时间、住院时间均短于对照组,差异有统计学意义(P<0.05);术后1个月,观察组排尿功能、勃起功能、射精功能Ⅰ级占比率均高于对照组,术后3个月,两组排尿功能、勃起功能、射精功能Ⅰ级占比率均高于术后1个月,且观察组高于对照组,差异有统计学意义(P<0.05);观察组并发症发生率为7.50%(3/40),低于对照组的27.50%(11/40),差异有统计学意义(P<0.05)。结论:腹腔镜TPC-IPAA治疗男性FAP患者可减少术中出血量,缩短最大切口长度、首次进食时间和住院时间,提高排尿功能和性功能Ⅰ级占比率,以及降低并发症发生率,效果优于开腹TPC-IPAA,但需延长手术时间。

云南省遗传性大肠癌组织库的建立及管理

目的:为抢救和保存云南省民族性遗传性大肠癌家系标本资源,建立云南省遗传性大肠癌标本库.方法:采集遗传性大肠癌家系中患者及其直系亲属的全血、血清、血浆和粪便标本等,从中提取DNA保存.手术患者采集离体后组织标本(包括肿瘤、瘤旁和远端正常组织)、石蜡包埋切片.同时采集散发性大肠癌全血和组织标本提取DNA作为对照.并开发一套信息管理系统应用于标本库的管理,系统运行平台为WindowXP,数据库为ACCESS2003.结果:2007-09/2008-06共采集14个遗传性大肠癌家系(10个FAP家系,4个HNPCC家系),其中包括9个汉族家系,2个白族家系,2个彝族家系,1个藏族家系的标本.其中血液标本达356份,组织标本157份,提取所有家系成员的DNA备用.并同时采集散发性大肠癌血液样本354份其中非汉民族127份.结论:建立了规范的,具有一定规模的云南省民族性遗传性大肠癌标本库.

中国人231例家族性腺瘤性息肉病术式选择的Meta分析

目的：荟萃分析中国人家族性腺瘤性息肉病（FAP）的临床特征及手术术式。方法：以“家族性腺瘤性息肉病”为检索词，电脑检索2000～2006年国内公开发表的中文文献，统一纳入和排除标准，对所得资料进行荟萃分析。结果：男137例（59．3％），女94例（40．7％），男：女=1．46：1。有明确家族性腺瘤性息肉病家族史者占51．2％，平均发病年龄27．8岁，腺瘤癌变率为47．5％，腺瘤癌变者平均年龄35．9岁。术式选择全结肠直肠切除＋末端回肠腹壁造口术（TPA）60例（26．0％），全结肠部分直肠切除＋回肠直肠吻合术（IRA）63例（27．3％），全结肠直肠切除＋回肠肛管吻合术（IAA）12例（5．2％），全结肠直肠切除＋回肠储袋肛管吻合术（IPAA）19例（8．2％），全结肠部分直肠切除＋残留直肠黏膜剥脱＋经直肠肌鞘回肠肛管吻合术22例（9．5％），全结肠部分直肠切除＋残留直肠黏膜剥脱＋经直肠肌鞘回肠储袋肛管吻合术47例（20．3％），部分结肠或直肠切除术8例（3．5％）。结论：FAP是临床常见的多发生于结直肠的遗传性疾病，但文献报道不多，病例数较少；腺瘤发病早，癌变比率高；症状主要为大便习惯改变；诊断主要靠下消化道造影及纤维结肠镜检查；术式选择时应根据患者具体情况采用个体化手术方式；良性者预后较好，已癌变者预后也较原发结直肠癌为好。

内镜下高频电切治疗家族性腺瘤性息肉病的临床研究

目的探讨内镜下高频电切治疗家族性腺瘤性息肉病的新方法及临床疗效。方法该组21例结肠息肉病中,15例行内镜下高频电切息肉+定期治疗和随访;6例行部分肠切除+内镜下高频电切息肉+定期治疗和随访。结果本组切除最大息肉3.0cm×3.5cm大小,切除息肉1次最多达256个,最多的1例共行11次高频电切治疗,切除息肉1535个,21例均恢复正常生活和工作。全组未发生出血、穿孔等并发症,在治疗和随访期间无癌变或死亡病例。结论结肠镜下高频电切治疗家族性腺瘤性息肉病,结合定期结肠镜随访的方案安全可行,近期疗效满意。

大肠癌APC、β-catenin、E-cadherin和c-myc的表达及意义

目的探讨腺瘤性息肉蛋白(APC)、β-catenin、E-cadherin和c-myc在大肠癌发生、发展中的作用。方法采用免疫组化法检测正常大肠黏膜、大肠腺瘤、大肠腺瘤恶变及大肠癌组织中上述4种蛋白的表达情况。结果大肠癌和大肠腺瘤恶变APC阳性率显著低于大肠腺瘤和正常大肠黏膜(P<0.01)。大肠癌、大肠腺瘤恶变和大肠腺瘤β-catenin胞质/胞核异位表达率、c-myc阳性率显著高于正常大肠黏膜(P<0.01),大肠癌的β-catenin异位表达率显著高于大肠腺瘤(P<0.01)。大肠癌中β-catenin、E-cadherin膜表达缺失率显著高于大肠腺瘤和正常大肠黏膜(P<0.01)。大肠癌中β-catenin异位表达与c-myc阳性表达、E-cadherin阳性表达呈正相关,与APC阳性表达呈负相关。结论APC失表达和(或)β-catenin异位表达、c-myc过表达与大肠癌的发生相关,β-catenin、E-cadherin膜表达缺失与大肠癌的侵袭、转移有关。

应用蛋白截短技术检测APC基因胚系突变

建立蛋白截短检测技术,分析家族性腺瘤样息肉病(FAP)发病相关基因APC基因的胚系突变,研究基因突变型与FAP疾病表型的关系。经临床诊断的22例FAP患者及43例散发性大肠癌患者,分别取外周静脉血和正常结肠粘膜组织,常规提取基因组DNA。应用蛋白截短检测技术,分段分析APC基因巨大的第15外显子,对检出截短蛋白的样本进行测序,以确定突变位点及突变性质。22例FAP患者中,5例患者存在APC基因第15外显子的胚系突变,均为碱基缺失造成的移码突变,导致截短蛋白的产生;43例散发性大肠癌患者中未检测到APC基因第15外显子的胚系突变。蛋白截短检测技术是一种高效的基因突变分析技术,适用于大片段基因(如APC基因第15外显子)截短型突变的检测,可作为FAP症状出现前的常规基因诊断技术的一项有效补充。

粪、血APC及K-ras基因突变联合检测在大肠癌筛查中的作用

目的通过联合检测粪、血浆中APC和K-ras两种基因的突变,探讨其在大肠癌筛查中的作用。方法收集本院2003年10月～2004年3月行肠镜检查患者的肝素抗凝血5ml,大便3～5g。提取粪便及血浆DNA,采用PCR-SSCP法检测APC和K-ras突变。结果和结论(1)大肠癌和腺瘤患者血浆APC基因突变分别为41.9%和57.7%(P>0.05),高于正常对照组(P<0.05)。粪便APC基因突变分别为51.6%和42.3%(P>0.05),高于正常对照组(P<0.05)。两种检测方法具有高度的吻合度(kappa值为0.811,P<0.001)。(2)血浆K-ras基因突变在大肠癌、腺瘤和正常对照分别为48.4%、3.8%和0%,粪便K-ras基因突变在3组中分别为54.8%、7.7%和11.1%,大肠癌组高于腺瘤组和正常组(P<0.05),腺瘤组和正常组间无差异(P>0.05)。两种方法检测的吻合度一般(kappa值为0.662,P=0.000)。(3)联合检测APC及K-ras基因突变可以提高诊断大肠癌的灵敏度。血、粪联合检测检测APC和K-ras基因突变较粪便检测无明显优势。(4)APC基因突变与是否发生肿瘤区域淋巴结转移有关,K-ras基因突变与病变分化程度有关。

散发性结直肠癌组织APC突变的研究

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腺瘤样结肠息肉易感基因蛋白截短与大肠腺瘤及大肠癌早期诊断关系

目的探讨腺瘤样结肠息肉(APC)易感基因截短表达水平在大肠腺瘤及大肠癌早期诊断中的价值。方法 34例大肠癌病理标本作为大肠癌组、28例大肠腺瘤标本作为大肠腺瘤组及同期正常大肠组织标本15例作为正常组。3组分别采用蛋白截短检测技术,比较APC基因蛋白截短表达差异。结果正常组APC蛋白截短(+)为0%,大肠腺瘤组42.86%,大肠癌组47.06%,大肠腺瘤组和大肠癌组差异不显著(P>0.05);正常组与大肠腺瘤、大肠癌组差异显著(χ2=8.917、P=0.003,χ2=10.481、P=0.001);管状腺瘤组织的APC蛋白截短(+)(75.00%),显著高于绒毛腺瘤组织(20.00%)和混合腺瘤组织(16.67%)(P<0.05)。结论 APC蛋白截短(+)表达在不同大肠组织中表达具有一定的差异性,在大肠肿瘤的早期阶段APC蛋白截短(+)表达就存在差异,对早期诊断大肠肿瘤病变具有一定的意义。