Inflammatory bowel disease and familial adenomatous polyposis

BackgroundInflammatory bowel disease (IBD) and familial adenomatous polyposis (FAP) are uncommon diseases and both are associated with marked increased risk of colorectal cancer.MethodsWe present a patient diagnosed in parallel with ulcerative colitis and FAP. Mutational analysis of the APC germline and somatic DNA was performed by sequencing.ResultsThis patient's phenotype consisted of polyps only on the right side of the colon (cecum and ascending colon) whereas the area affected by ulcerative colitis (descending colon and rectum) was free of polyps on endoscopy and microscopic adenomas on histology. This raises the possibility that mosaicism or inflammation in the presence of active ulcerative colitis modified the phenotypic expression of adenomatous polyposis in the left colon. Mosaicism was excluded by DNA analysis.DiscussionThis case of a patient diagnosed with both inflammatory bowel disease and familial adenomatous polyposis offers potential insights into the distinct pathogenesis of cancer susceptibility within these syndromes, and suggests that a collision of phenotypes may influence their mutual presentation. Both of these conditions independently increase the risk of colorectal cancer.     

Rectal localized giant inflammatory polyposis with indeterminate colitis

Only two cases of rectal giant inflammatory polyposis with ulcerative colitis have been reported in the English literature and both concern children. This is the first report of a case of localized giant inflammatory polyposis of the rectum in an adult with indeterminate colitis. A 71-year-old man underwent sigmoidectomy due to stenosis of the sigmoid colon. Final histological diagnosis was indeterminate colitis. Three years following the first operation, a rectal tumor with giant polyposis was observed, and abdominoperineal resection was performed. Macroscopic and microscopic examination indicated a localized giant inflammatory polyposis of the rectum.     

Silent ulcerative colitis adjacent to a regular sigmoid adenocarcinoma

There have been studies trying to elucidate the large spectrum and the variety of inflammatory bowel disease (IBD)-related colorectal cancer manifestations and natural history. A 57-year-old male patient underwent a regular screening colonoscopy in our department, which revealed a flat ulcerated mass in the sigmoid whereas the remaining bowel was normal on endoscopic appearance. Biopsies from the mass were compatible with sigmoid adenocarcinoma and the patient underwent left hemicolectomy. Pathology examination of the resected specimen also diagnosed ulcerative colitis adjacent to cancer. The otherwise healthy patient denied any history that could be related to IBD symptoms. Patient was started on 1.6 g of mesalazine and was advised to adhere to an endoscopic surveillance program. This case points toward a need for a more thorough understanding of the natural history of colorectal cancer in IBD to set clinically meaningful guidelines.     

Filiform polyposis associated with sigmoid diverticulitis in a patient without inflammatory bowel disease

Filiform polyposis (FP) of the colon is an uncommon entity that is occasionally encountered in patients with inflammatory bowel disease (IBD). FP is morphologically characterized by multiple slender worm-like projections consisting of submucosal cores lined with normal mucosa. To date, only two cases of FP have been reported in patients with inflammatory conditions of the gastrointestinal tract other than ulcerative colitis or Crohn's disease. We report an additional case of FP occurring in an 83-year-old man with no history of IBD. The patient underwent anterior resection of the sigmoid colon for perforated diverticulitis. Around the diverticular orifice, localized FP involving a 13-cm colonic segment was observed. The filiform polyps consisted of submucosal fibrovascular cores lined with normal mucosa without epithelial dysplasia. To our knowledge, this is the first reported case of FP associated with colonic diverticulitis in a patient without IBD.     

Synchronous colorectal cancer: Clinical,pathological and molecular implications

Synchronous colorectal carcinoma refers to more than one primary colorectal carcinoma detected in a single patient at initial presentation.A literature review has shown that the prevalence of the disease is approximately 3.5%of all colorectal carcinomas.This disease has a male to female ratio of 1.8:1.The mean age at presentation of patients with synchronous colorectal cancer is in the early half of the seventh decade.Patients with inflammatory bowel diseases(ulcerative colitis and Crohn’s disease),hereditary non-polyposis colorectal cancer,familial adenomatous polyposis and serrated polyps/hyperplastic polyposis are known to have a higher risk of synchronous colorectal carcinoma.These predisposing factors account for slightly more than 10%of synchronous colorectal carcinomas.Synchronous colorectal carcinoma is more common in the right colon when compared to solitary colorectal cancer.On pathological examination,some synchronous colorectal carcinomas are mucinous adenocarcinomas.They are usually associated with adenomas and metachronous colorectal carcinomas.Most of the patients with synchronous colorectal cancer have two carcinomas but up to six have been reported in one patient.Patients with synchronous colorectal carcinoma havea higher proportion of microsatellite instability cancer than patients with a solitary colorectal carcinoma.Also,limited data have revealed that in many synchronous colorectal carcinomas,carcinomas in the same patient have different patterns of microsatellite instability status,p53 mutation and K-ras mutation.Overall,the prognosis of patients with synchronous colorectal carcinoma is not significantly different from that in patients with solitary colorectal carcinoma,although a marginally better prognosis has been reported in patients with synchronous colorectal carcinoma in some series.A different management approach and long-term clinical follow-up are recommended for some patients with synchronous colorectal cancer.     

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 ...     

Inflammatory polyposis two years after ischemic colon injury

Summary Inflammatory polyps occur in association with ulcerative colitis, Crohn's disease, and other inflammatory diseases of the colon. The occurrence of inflammatory polyps following ischemic colitis has not been well documented. A 49-year-old man suffered complications of hypoperfusion, including renal insufficiency, hepatic failure, shock lung, and ischemic colitis following emergent repair of an acute aortic dissection. Although the renal, hepatic, and pulmonary complications resolved, the patient continued to experience intermittent bloody diarrhea more than two years after his initial presentation. Barium enema and colonoscopy revealed numerous pedunculated polyps in the descending and sigmoid colon. Histopathology of the polyps removed by snare electrocautery showed them to be inflammatory polyps. We believe these are the sequelae of chronic ischemic colitis.Supported by NIH National Research Service Award T32 AM07113 and NIH grant PO1 AM32971.     

Groups at risk for colorectal tumors

Genetic and environmental factors are involved in the development of colorectal cancer. The most important prognostic factor is the pathological stage at the time of diagnosis. Therefore it is called for early detection, screening for colorectal cancer, and definition of risk groups. High risk groups are familial polyposis coli, ulcerative colitis, cancer family syndrome, ureterosigmoidostomy, colorectal adenomas, and after resection of colorectal cancer. For these groups a lifelong follow-up and treatment is necessary. But groups with lower risk (Crohn's disease, breast cancer, endometrial cancer, colorectal cancer within the family, gastric polyps, and partial gastrectomy in benign ulcer) need attention too. Colonoscopy with biopsy is one of the most important techniques during follow-up of these patients.     

Education and management of patients with familial adenomatous polyposis. Are we making progress? A case report

A 25-year-old male patient was admitted to our clinic for abdominal pain, diarrhea, intermittent rectal bleeding and weight loss. The family history revealed two deaths due to colorectal cancer (maternal grandmother and patient's mother). The colonoscopy showed hundreds of polyps throughout the colon, and an ulcerative rectosigmoidian tumor. The diagnosis was Familial Adenomatous Polyposis (FAP). Colectomy with ileorectal anastomosis was performed. Histopathological diagnosis revealed moderately differentiated adenocarcinoma. Adjuvant chemotherapy was carried out. The patient had three brothers, without clinical symptoms. They had a colonoscopic examination for screening. Two of them were diagnosed with adenomatous polyposis - the first with classic FAP and the other one with the attenuated type (AFAP). The diagnosis of FAP can be made on the basis of either clinical or genetic criteria. When the family history, clinical features, and pathological findings are classic, the diagnosis is straightforward. Screening and prophylactic surgery are effective to prevent colorectal cancer in patients with FAP. Lifelong regular surveillance is necessary to detect and manage extracolonic lesions.     

Diverticular colitis with progression to ulcerative colitis after sigmoidectomy

Diverticular colitis is chronic inflammation of the colon where diverticula are present. The endoscopic and histopathological findings of this disease are sometimes similar to those of ulcerative colitis, and several reports describe cases of diverticular colitis that progressed to typical ulcerative colitis. A 77-year-old woman with intramesenteric penetration of the sigmoid diverticulum underwent low anterior resection. One month later, the patient experienced anastomotic leakage, and transverse colostomy was performed. Six months after the colostomy, the patient returned to the hospital with complaints of bloody discharge from the rectum and stoma. Colonoscopy revealed newly developed loss of vascular pattern and a granular appearance of the mucosa in the rectum that had not been present at prior examinations. She was diagnosed with ulcerative colitis, which developed after colectomy, and treated with mesalazine and high-dose prednisolone, but the clinical and endoscopic response was poor. Finally, the patient underwent total proctocolectomy and ileal pouch anal anastomosis with diverting ileostomy. As a few reports have described, diverticular colitis can progress to typical ulcerative colitis after surgery in some cases, suggesting a possible pathogenic similarity between the two diseases and association between colorectal surgery and disease progression.     

The role of preoperative colonoscopy in colorectal cancer

Routine preoperative colonoscopy has been recommended for those patients with the diagnosis of colorectal cancer to identify synchronous polyps and/or cancers which might otherwise be undetected on barium enema or at the time of operation. It has been suggested that this approach may alter surgical therapy or follow-up. The charts of 98 patients who underwent preoperative colonoscopy solely for the purpose of detecting additional polyps or cancers prior to open surgical resection for colorectal cancer were retrospectively reviewed. All patients had biopsy or barium-enema evidence of colorectal cancer. Patients with familial polyposis or chronic ulcerative colitis were excluded. Synchronous cancers were detected in 7.1 percent of patients, and synchronous neoplastic polyps in 29 percent. Forty-three percent of synchronous cancers and 73 percent of synchronous neoplastic polyps would not have been included in the standard surgical resection for the index cancer if the additional information provided by colonoscopy had not been available. Surgical treatment and/or follow-up were altered in 33 percent of patients as a consequence of the colonoscopic evaluation. Colonoscopy prior to surgery for colorectal carcinoma is highly desirable and may potentially improve long-term survival. Read at the joint meetings of The American Society of Colon and Rectal Surgeons with the Section of Coloproctology, Royal Society of Medicine, and the Section of Colonic and Rectal Surgery, Royal Australasian College of Surgeons, New Orleans, Louisiana, May 5 to 11, 1984.     

Invasive balantidiasis presented as chronic colitis and lung involvement

Summary A unique case of chronic balantidiasis is described, presenting with chronic colitis and inflammatory polyposis of the rectum and sigmoid colon and an intrapulmonary mass. Histology of the colonic polyps showedBalantidium coli, and bothAspergillus andBalantidium coli were found in the aspirate of the pulmonary mass. The patient was treated with doxycycline HC1 100 mg/day for 10 days with complete clinical recovery and marked improvement of the endoscopic appearance of the colonic mucosa.     

Association of hyperplastic polyposis syndrome, colorectal cancer and meningioma

Recent research has provided compelling evidence that a subset of hyperplastic polyps may be associated with a risk of colorectal cancer. Colorectal cancer with extracolonic manifestation is usually seen in a hereditary syndrome setting, but some association with meningioma has been reported. The association of colorectal cancer with hyperplastic polyposis and meningioma is extremely rare. This report in a 57-year-old female with no family history of colon cancer or polyps, could be the first case of hyperplastic polyposis syndrome, colorectal cancer and meningioma. Hyperplastic polyposis syndrome was diagnosed as per WHO criteria at the time of colon cancer diagnosis. Within 4 months of colon cancer diagnosis she developed seizures. Imaging of the brain revealed meningioma of the left cerebellopontine angle. The patient underwent surgery followed by chemotherapy.     

Chemoprevention of Colitis-Associated Dysplasia or Cancer in Inflammatory Bowel Disease

The association between inflammatory bowel disease and colorectal cancer is well known. Although the overall incidence of inflammatory bowel disease has declined recently, patients with this disease still have a 1.7-fold increased risk of colorectal cancer. The risk factors for developing colorectal cancer include extensive colitis, young age at diagnosis, disease duration, primary sclerosing cholangitis, chronic colonic mucosal inflammation, dysplasia lesion, and post-inflammatory polyps. In patients with inflammatory bowel disease, control of chronic inflammation and surveillance colonoscopies are important for the prevention of colorectal cancer. The 2017 guidelines from the European Crohn’s and Colitis Organisation suggest that colonoscopies to screen for colorectal cancer should be performed when inflammatory bowel disease symptoms have lasted for 8 years. Current evidence supports the use of chemoprevention therapy with mesalamine to reduce the risk of colorectal cancer in patients with ulcerative colitis. Other compounds, including thiopurine, folic acid, statin, and tumor necrosis factor-^α inhibitor, are controversial. Large surveillance cohort studies with longer follow-up duration are needed to evaluate the impact of drugs on colorectal cancer risks.     

Fifteen-year-old colon cancer patient with a 10-year history of ulcerative colitis

Inflammatory bowel disease (IBD) is regarded as one of the risk factors for colorectal cancer, and early detection of cancer in these patients may be difficult, especially in pediatric patients. Prognosis of pediatric colorectal cancer is known to be poor, because of delayed diagnosis and unfavorable differentiation. We report a case of a pediatric patient with a 10-year history of ulcerative colitis who was diagnosed with sigmoid colon cancer when he was 15 years old. He underwent proctocolectomy with ileal pouch anal anastomosis. Postoperative pathological examination of the tumor revealed adenocarcinoma. The pericolic tissue layer was infiltrated, but metastases were not found in either of the two lymph nodes. Children with a long history of predisposing factors such as IBD need particular attention to the possibility of colorectal cancer. Early diagnosis through regular screening with colonoscopy is one of the most important critical factors for a good prognosis.     

Colorectal cancer in familial polyposis coli and ulcerative colitis

The records of all patients with familial polyposis coli and ulcerative colitis operated at The Mount Sinai Hospital were reviewed to determine the proportion of patients with cancer at the time of colon resection. Sixty-nine patients with familial polyposis coli undergoing operation between 1947 and 1983 were identified and 25 (36 percent) were found to have cancer. In the group with ulcerative colitis, 548 patients had surgical treatment between 1957 and 1983 and 65 (12 percent) had colonic cancer. There was a significant decrease in the proportion of patients with familial polyposis coli having cancer at the time of colon resection from 50 percent before 1968 to 20 percent since 1978. This change in cancer incidence was found to correlate with a decrease in the mean age at operation from 40 to 25 years. In the group with ulcerative colitis, the mean age at operation has remained essentially unchanged at 36 years. The proportion of patients with ulcerative colitis having cancer at the time of colon resection has remained constant throughout this study. Progression to carcinoma is still a significant concern in both familial polyposis coli and ulcerative colitis. Although removal of the colon and rectum prevents cancer development, patient selection and timing of the operation remain a difficult problem.     

CT仿真结肠镜对结肠病变的临床应用探讨

目的 探讨结肠腺瘤。结肠癌,结肠憩室,溃疡性结肠炎,结肠黑变病等病变的ＣＴ仿真结肠镜表现,初步评价其在结肠病灶诊断中的应用价值。方法 ３７例病人（包括２０例结肠腺瘤,６例结肠癌,４例憩室,５例溃疡性结肠炎,结肠黑变病及结肠淀粉样变各１例）行ＣＴ仿真结肠镜并和结肠镜检查结果作对照,男２６例,女１１例,结果 ＣＴ仿真结肠镜对结肠癌和结肠腺瘤、结肠憩室有较高的辨别率,成功地检出了６例结肠癌、１７例结肠腺     

Skin tags are not a risk factor for colorectal polyps

To ascertain whether acrochordons (simple skin tags) are associated with a higher risk for colon polyps, we prospectively studied 218 male and female patients, age 40 or older without history of colon cancer, polyps, ulcerative colitis, familial polyposis, or recent lower intestinal symptoms. Each patient was assessed for the presence of skin tags. A screening flexible sigmoidoscopy was then performed without knowledge of the dermatologic findings. All polypoid lesions were recorded, and patients with polyps greater than or equal to 3 mm in diameter underwent full colonoscopy and polypectomy. Twenty patients (9.2%) had documented adenomatous polyps on colonoscopy. Nineteen other patients had hyperplastic polyps and mamillations. There was no significant difference in the prevalence of polypoid lesions in those with skin tags compared with those without skin tags, either analyzed as group totals or stratified by age, sex, or type of polyp. We conclude that skin tags are not associated with a higher than usual risk for colonic polyps and should not be used as a marker for more intensive screening.     

Diffuse pseudopolyposis of the colon: developmental form or cicatricial of hemorrhagic rectocolitis?

The authors report the case of a patient with generalized polyposis associated with ulcerative colitis. The diagnosis of polyposis was made 20 years after the onset of colitis. The patient presented with the unusual clinical manifestations, ie poor general condition and severe denutrition, following a severe relapse of colitis. The mucosal surface of the entire colon, except the rectum, was covered by innumerable polyps, without any macroscopic or microscopic evidence of ulceration. Intestinal protein loss, as assessed by alpha-1-antitrypsin clearance, was very high (470 ml/d). Acute mucosal inflammation, as assessed by histologic study and by 111-Indium-labelled-leukocyte scintigraphy, was also present. The patient responded dramatically to total colectomy with ileorectal anastomosis. Histologically, the polyps were filiform, with a central core, containing vessels and smooth muscle fibers. This observation demonstrates that generalized polyposis, generally considered to be an asymptomatic sequela of ulcerative colitis, can also be associated with severe attacks of colitis.     

High frequency of colorectal adenoma in patients with duodenal adenoma but without familial adenomatous polyposis

BACKGROUND: Duodenal adenomas are extremely common in patients with familial adenomatous polyposis. However, it is uncertain whether patients with duodenal adenomas without familial adenomatous polyposis are at greater risk for colorectal neoplasia and, therefore, should routinely undergo surveillance colonoscopy. The aim of this study was to determine whether there is a correlation between non-papillary duodenal adenoma without familial adenomatous polyposis and colorectal adenoma. METHODS: Twenty-five patients with non-papillary duodenal adenomas without familial adenomatous polyposis, seen from January 1990 to April 2003, were retrospectively evaluated. RESULTS: Non-papillary duodenal polyps were diagnosed by endoscopy in the 25 patients. Of these, 21 underwent colonoscopy and one underwent proctoscopy. The mean age of these 22 patients (12 women, 10 men) was 69 years (range 50-83 years). Sixteen of the 22 patients (72.7%) with duodenal adenomas had associated colorectal adenomas. A total of 38 adenomas and one colorectal cancer were detected. The mean size of the polyps was 6.2 mm (range 3-15 mm). The adenomas were removed by snare excision or with a biopsy forceps. CONCLUSIONS: Based on the results of this uncontrolled, retrospective study, the frequency of colorectal adenomas in patients with duodenal polyps without familial adenomatous polyposis appears to be increased compared with the general population. All patients with duodenal polyps should undergo surveillance colonoscopy for colorectal adenomas. A prospective study to definitively establish the frequency of colorectal adenomas in these patients is warranted.