Sinonasal Polyposis: About 60 Cases at Fann University Hospital Center, Senegal

Introduction: Sinonasal polyposis (SNP) is a chronic inflammatory disease of the mucosa of the nasal cavities and facial sinuses. It is characterized by an oedematous, multifocal and bilateral degeneration of the nasosinus mucosa, which originates in the lateral masses of the ethmoid, where it causes the formation of smooth, gelatinous, translucent and pyriform polyp lesions. The objective of this study was to review epidemiological, clinical, paraclinical data and evaluate the results of endoscopic surgical treatment. Patients and Methods: This is a retrospective study on 60 patients followed at the ENT department of the Fann National University Hospital Center, from January 2010 to December 2015. All patients with sinonasal polyposis were included in the study. Results: The average age of our patients was 38 years and the sex ratio (M/F) was 0.8. In the patients’ histories, we found 18% asthma and 10% Widal’s disease. The average consultation time was 8.5 years. All patients had consulted for nasal obstruction;rhinorrhea was bilateral and found in 67.7% of cases, with olfactory disorders accounting for 50%. The CT scan performed in 58% of cases made it possible to specify the extent of the lesions;the involvement of the ethmoidal sinus was constant and extended to the other sinuses except in 2 cases. All patients had received medical treatment with local corticosteroids. Endoscopic surgical treatment was initiated in 43% of cases after failure of corticosteroid-based medical treatment. The evolution under treatment marked by the reappearance of symptoms that increased each month. At one month postoperatively, all clinical symptomatology had improved with the exception of olfactory disorders, which persisted in 3 patients. At 12 months we noted 12 cases of reappearance of nasal obstruction. Conclusion: SNP is a disease of little known etiology. The diagnosis is almost always clinical. Endoscopic surgery remains a recourse to medical treatment. For good local control, patients should be more respectful of good compliance with corticosteroid therapy.

Hereditary polyposis syndromes remain a challenging disease entity:Old dilemmas and new insights

In this editorial we present an overview and insights of the management of hereditary polyposis syndromes.The primary focus was on familial adenomatous polyposis,juvenile polyposis syndrome and Peutz-Jegher syndrome.Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice.Furthermore,several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes,allowing for precise diagnostics and tailored follow-up.Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies.Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions.Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described.Surgery is still a key component in the management of patients with hereditary polyposis syndromes.The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development.Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations.Development of chemopreventive medications is ongoing.Few drugs have been investigated,including nonsteroidal anti-inflammatory drugs.It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps.Other medications are currently under investigation,but none have,to date,consistently been able to prevent development of disease.

Polyposis found on index colonoscopy in a 56-year-old female-BMPR1A variant in juvenile polyposis syndrome:A case report

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 adolescents and is infrequently diagnosed in asymptomatic adults.Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.CASE SUMMARY We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the BMPR1A gene BMPR1A c.1409T>C(p.Met470Thr).She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy.The patient was asymptomatic with a normal physical examination and no related medical or family history.Blood tests revealed only mild iron deficiency without anemia.To date,there has only been one other reported case of JPS with the same genetic variant.Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.CONCLUSION JPS patients can present with no prior symptoms or family history.Genetic testing plays an important diagnostic role guiding management.

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.

MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

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 rarely reported in MAP patients,and no clear recommendations on small bowel(SB)surveillance have been proposed in this patient setting.AIM To research more because that case reports of duodenal cancers in MAP suggest that they may develop in the absence of advanced benign SS disease and often involve the distal portion of the duodenum.METHODS We describe a series of MAP patients followed up at the Regina Elena National Cancer Institute of Rome(Italy).A literature overview on previously reported SB cancers in MAP is also provided.RESULTS We identified two(6%)SB adenocarcinomas with no previous history of duodenal polyposis.Our observations,supported by literature evidence,suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer may need to be adjusted to take this into account rather than focusing solely on the presence or absence of SS IV disease.Core Tip:Case reports of duodenal cancers in MUTYH-associated polyposis suggest that they may develop in the absence of advanced Spigelman stage(SS)benign disease and often involve the distal portion of the duodenum.In our case series,we identified two(6%)small-bowel adenocarcinomas with no previous history of duodenal polyposis.Our observations,supported by literature evidence,suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer should be adjusted to take into consideration the presence of SS IV disease,rather than focusing only on this feature.suggestive of invasive adenocarcinoma.

Attenuated adenomatous polyposis of the large bowel: Present and future

Attenuated adenomatous polyposis(AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis(FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations. AAP may be diagnosed as a single case in a family or, less frequently, it may be present in other family members, and it shows distinct pattern of inheritance. In less than 50% of cases, it may be caused by adenomatous polyposis coli(APC) or MUTYH mutations, referred to as APC-associated polyposis, inherited as an autosomal dominant trait, or MUTYH-associated polyposis, which shows an autosomal recessive mechanism of inheritance, respectively. Surveillance should rely on colonoscopy at regular intervals, with removal of adenomas and careful histological examination. When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. Studies on this syndrome are lacking, and controversies are still present on many issues, thus, other clinical and genetic studies are requested.

APC gene mutations in Chinese familial adenomatous polyposis patients

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.

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

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.

Management of pouch related symptoms in patients who underwent ileal pouch anal anastomosis surgery for adenomatous polyposis

BACKGROUND Adenomatous polyposis syndromes(APS)patients with ileal pouch anal anastomosis(IPAA)suffer frequent symptoms with scarce signs of inflammation,distinct from ulcerative colitis patients.While the management of pouchitis in ulcerative colitis patients is well established,data regarding response to treatment modalities targeting pouch-related disorders in APS patient population is scarce.AIM To assess clinical,endoscopic and histologic response to various treatment modalities employed in the therapy of pouch related disorders.METHODS APS patients who underwent IPAA between 1987-2019 were followed every 6-12 mo and pouch-related symptoms were recorded at every visit.Lower endoscopy was performed annually,recording features of the pouch,cuff and terminal ileum.A dedicated gastrointestinal pathologist reviewed biopsies for signs and severity of inflammation.At current study,files were retrospectively reviewed for initiation and response to various treatment modalities between 2015-2019.Therapies included dietary modifications,probiotics,loperamide,antibiotics,bismuth subsalicylate,mebeverine hydrochloride,5-aminosalicylic acid compounds and topical rectal steroids.Symptoms and endoscopic and histologic signs of inflammation before and after treatment were assessed.Pouchitis disease activity index(PDAI)and its subscores was calculated.Change of variables before and after therapy was assessed using Wilcoxon signed rank test for continuous variables and using McNemar's test for categorical variables.RESULTS Thirty-three APS patients after IPAA were identified.Before treatment,16 patients(48.4%)suffered from abdominal pain and 3(9.1%)from bloody stools.Mean number of daily bowel movement was 10.3.Only 4 patients(12.1%)had a PDAI≥7.Mean baseline PDAI was 2.5±2.3.Overall,intervention was associated with symptomatic relief,mainly decreasing abdominal pain(from 48.4%to 27.2%of patients,P=0.016).Daily bowel movements decreased from a mean of 10.3 to 9.3(P=0.003).Mean overall and clinical PDAI scores decreased from 2.58 to 1.94(P=0.016)and from 1.3 to 0.87(P=0.004),respectively.Analyzing each treatment modality separately,we observed that dietary modifications decreased abdominal pain(from 41.9%of patients to 19.35%,P=0.016),daily bowel movements(from 10.5 to 9.3,P=0.003),overall PDAI(from 2.46 to 2.03,P=0.04)and clinical PDAI(1.33 to 0.86,P=0.004).Probiotics effectively decreased daily bowel movements(from 10.2 to 8.8,P=0.007),overall and clinical PDAI(from 2.9 to 2.1 and from 1.38 to 0.8,P=0.032 and 0.01,respectively).While other therapies had minimal or no effects.No significant changes in endoscopic or histologic scores were seen with any therapy.CONCLUSION APS patients benefit from dietary modifications and probiotics that improve their pouch-related symptoms but respond minimally to anti-inflammatory and antibiotic treatments.These results suggest a functional rather than inflammatory disorder.

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.

Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis

Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis(FAP). However,adenomas may develop in the ileal pouch mucosa over time,and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence,nature,and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed,the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated,but many remain controversial. Nevertheless,it seems certain that the age of the pouch is important. The risk appears to be 7%to 16% after 5 years,35% to 42% after 10 years,and75% after 15 years. On the other hand,only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years(median,10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low,it is not negligible,and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance,especially using chromoendoscopy,is recommended.

Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

Familial adenomatous polyposis(FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps(predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

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.

Aggressive juvenile polyposis in children with chromosome 10q23 deletion

Juvenile polyps are relatively common findings in children,while juvenile polyposis syndrome(JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer.Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome.Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN and BMPR1A causing aggressive polyposis and malignancy in childhood.These reports have also described extra-intestinal findings in most cases including cardiac anomalies,developmental delay and macrocephaly.In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly,developmental delay,short stature,hypothyroidism,atrial septal defect,ventricular septal defect and hypospadias.He required colectomy at six years of age,and early colectomy was a common outcome in other children with similar deletions.Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age,we propose aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes to include both the upper and lower gastrointestinal tracts,and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis.

Current status of familial gastrointestinal polyposis syndromes

Because of the rarity of familial gastrointestinal cancerpredisposing 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,BannayanRiley-Ruvalcaba syndrome,hereditary mixed polyposis syndrome,Gorlin syndrome,Birt-Hogg-Dube syndrome,neurofibromatosis type Ⅰand multiple endocrine neoplasia syndrome 2B),Li-Fraumeni syndrome,and MUTYHassociated adenomatous polyposis.For proper medical care,subspecialization of gastroenterologists,pathologists,and genticists in the field of familial diseases should be introduced in the medical curriculum.

Cap polyposis refractory to Helicobacter pylori eradication treated with endoscopic submucosal dissection

Cap polyposis is a rare intestinal disorder. Characteristic endoscopic findings are multiple inflammatory polypoid lesions covered by caps of fibrous purulent exudate. Although a specific treatment has not been established, some studies have suggested that eradication therapy for Helicobacter pylori(H. pylori) is effective. We report a case of a 20-year-old man with cap polyposis presenting with hematochezia. Colonoscopy showed the erythematous polyps with white caps from the sigmoid colon to rectum. Histopathological findings revealed elongated, tortuous, branched crypts lined by hyperplastic epithelium with a mild degree of fibromusculosis in the lamina propria. Although H. pylori eradication was instituted, there was no improvement over six months. We then performed en bloc excision of the polyps by endoscopic submucosal dissection(ESD), which resulted in complete resolution of symptoms. ESD may be a treatment option for cap polyposis refractory to conservative treatments. We review the literature concerning treatment for cap polyposis and clinical outcomes.

Eviendep~ reduces number and size of duodenal polyps in familial adenomatous polyposis patients with ileal pouchanal anastomosis

AIM:To evaluate if 3 mo oral supplementation with Eviendep was able to reduce the number of duodenal polyps in familial adenomatous polyposis(FAP)patients with ileal pouch-anal anastomosis(IPAA).METHODS:Eleven FAP patients with IPAA and duodenal polyps were enrolled.They underwent upper gastrointestinal(GI)endoscopy at the baseline and after 3 mo of treatment.Each patient received 5 mg Eviendep twice a day,at breakfast and dinner time,for3 mo.Two endoscopists evaluated in a blinded manner the number and size of duodenal polyps.Upper GI endoscopies with biopsies were performed at the baseline(T0)with the assessment of the Spigelman score.Polyps>10 mm were removed during endoscopy and at the end of the procedure a new Spigelman score was determined(T1).The procedure was repeated 3 mo after the baseline(T2).Four photograms were examined for each patient,at T1 and T2.The examined area was divided into 3 segments:duodenal bulb,second and third portion duodenum.Biopsy specimens were taken from all polyps>10 mm and from all suspicious ones,defined by the presence of a central depression,irregular surface,or irregular vascular pattern.Histology was classified according to the updated Vienna criteria.RESULTS:At baseline the mean number of duodenal detected polyps was 27.7 and mean sizes were 15.8mm;the mean Spigelman score was 7.1.After polypectomy the mean number of duodenal detected polyps was 25.7 and mean sizes were 7.6 mm;the mean Spigelman score was 6.4.After 3 mo of Eviendep bid,all patients showed a reduction of number and size of duodenal polyps.The mean number of duodenal polyps was 8(P=0.021)and mean size was 4.4 mm;the mean Spigelman score was 6.6.Interrater agreement was measured.Lesions>1 cm found a very good degree of concordance(kappa 0.851)and a good concordance was as well encountered for smaller lesions(kappa 0.641).CONCLUSION:Our study demonstrated that shortterm(90 d)supplementation with Eviendep in FAP patients with IPAA and with recurrent adenomas in the duodenal mucosa,resulted effective in reducing polyps number of 32%and size of 51%.

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.

Protein-losing pseudomembranous colitis with cap polyposis-like features

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.

Filiform polyposis in the sigmoid colon: A case series

Filiform polyposis is a rare condition of uncertain patho-genesis that is usually found in association with Crohn’s disease, ulcerative colitis, intestinal tuberculosis or histiocytosis X. We report seven interesting cases of polyposis with various pathologic components, mainly located in the left side of the colon with no associated inflammatory bowel disease, intestinal tuberculosis or histiocytosis X. Multiple finger-like polypoid lesions with the appearance of stalactites were noted on the left side of the colon, especially in the sigmoid area, at the time of colonoscopy. The polyps had a variety of sizes and shapes and were shown to have various histopathologic components among the different patients. Although filiform polyposis localized in the sigmoid colon appears not to have high oncogenic potential, periodic follow-up seems to be needed.