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We describe a 55-year-old man with isolated duodenal and jejunal amyloidosis producing rare endoscopic and histologic findings. The patient had no specific gastrointestinal complaints but underwent esophagogastroduodenoscopy and colonoscopy because of progressive microcytic anemia. Endoscopy revealed multiple polyps, some filiform and measuring up to 3 cm in length, in the duodenum and proximal jejunum. Microscopically, the polyps resulted from amyloid deposition, predominantly within the submucosa, but also focally involving muscularis mucosae and lamina propria. The amyloid formed multiple globular submucosal deposits with a lamellated appearance reminiscent of corpora amylacea; linear amyloid deposition was also present in a perivascular distribution and within the overlying mucosa. Immunophenotyping confirmed AL amyloidosis with lambda immunoglobulin light chain restriction. There was no clinical evidence of visceral amyloidosis. The source of lambda light chain production was unclear as bone marrow biopsy and multiple gastrointestinal biopsies revealed normal numbers of polyclonal plasma cells. Further, immunoglobulin-free light chain assay was normal, as were serum and urine protein electrophoreses with immunofixation. This endoscopic presentation of isolated small bowel polyposis is an uncommon association with AL amyloidosis and to our knowledge this represents the first case of globular gastrointestinal amyloidosis resulting from AL amyloid.
A 14-year-old male presented with abdominal pain, diarrhoea and a sensation of something prolapsing through the anus during defecation, and was found to have diffuse colonic polyposis. There was no evidence of mucocutaneous hyperpigmentation and family history was negative, suggesting a diagnosis of non-familial juvenile polyposis. Histological analysis of multiple endoscopic biopsies showed features typical of juvenile or retention type (hamartomatous) lesions: dilated cystic glands lined by mucocus-secreting epithelium and prominent, inflamed and congested lamina propria. However, admixed with these features, focal areas of atypical adenomatous changes were recognized. Even the intervening normal-looking colonic mucosa showed some dysplastic changes. These findings indicate that hamartomatous and atypical adenomatous epithelial changes can co exist in non-familial juvenile polyposis and the latter may confer a risk of malignant transformation in this otherwise non-neoplastic disease.
BACKGROUND: It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial adenomatous polyposis who are prone to develop intestinal cancer, particularly if there is a positive family history of these intestinal disorders. Although atypical, such lesions have been called congenital hypertrophy of the retinal pigment epithelium (CHRPE). This study was undertaken to determine whether the typical lesions of CHRPE, seen frequently by ophthalmologists, also were indicators of familial adenomatous polyposis. METHODS: Review of charts and follow-up studies were performed on all patients diagnosed and coded as having solitary CHRPE or its multifocal variant (congenital grouped pigmentation; bear tracks). Patients and their physicians were contacted by telephone to complete a detailed questionnaire designed to detect signs or symptoms of familial adenomatous polyposis or Gardner syndrome among these patients with CHRPE and their relatives. RESULTS: Of the 132 patients with previously diagnosed CHRPE, there were none with familial adenomatous polyposis, Gardner syndrome, or intestinal cancer, and only one patient had a history of intestinal polyps. Among more than 2000 of their blood relatives, only 20 had intestinal polyposis or colonic cancer (1%). This is much lower than would be expected from a survey of patients with the typical fundus lesions seen with familial adenomatous polyposis. CONCLUSIONS: It appears that solitary CHRPE and congenital grouped pigmentation differ clinically from the multiple pigmented lesions seen with familial adenomatous polyposis and that patients with these conditions, as well as their relatives, are not at a greater risk of developing intestinal cancer.
PURPOSE: Hyperplastic polyps are usually considered to be an innocent finding with little or no potential to progress to colorectal cancer. However, recent literature suggests that some of these polyps may be morphologically and genetically distinct and lead to microsatellite unstable colorectal cancers. The purpose of this study was to define the cancer risk associated with hyperplastic polyposis. METHODS: All patients with hyperplastic polyposis diagnosed by a single colorectal surgeon at a university hospital were followed prospectively. The diagnosis of hyperplastic polyposis was made by the presence of more than 20 hyperplastic polyps distributed throughout the colon and/or a hyperplastic polyp at least 1 cm in size in diameter in the right colon. Patient demographics, family history, size, location, and distribution of polyps and the development of colorectal cancer were noted. RESULTS: Thirteen patients who met the criteria for hyperplastic polyposis were identified and followed prospectively. All of these patients had at least 30 polyps distributed throughout the colon, often > 100. Nine of 13 also had a hyperplastic polyp at least 1 cm in size, usually in the right colon. Of particular note, 7 of 13 patients (54 percent) were diagnosed with colorectal cancer during the study period. Four had cancer on initial diagnosis and three patients developed cancer despite frequent colonoscopic surveillance. Five of seven colorectal cancers were located in the right colon. CONCLUSIONS: Patients with hyperplastic polyposis are at high risk for colorectal cancer. Failure to identify this subset of patients could have dire consequences.
Juvenile polyposis syndrome is an uncommon hamartomatous disorder with gastrointestinal (GI) manifestations of varying degree and malignant potential. We report the cases of an 8-year-old girl and a 5-year-old girl who suffered massive lower GI hemorrhage. Neither patient had a family history of polyposis. After the patients were stabilized, radiological evaluation, laparotomy, and intraoperative colonoscopy revealed multiple polyps in the colon. Both patients underwent total colectomy, mucosal proctectomy, and ileoanal anastomosis. The diagnosis of nonfamilial juvenile polyposis was based on the histological findings and the absence of a family history. To our knowledge, this presentation of juvenile polyposis has been reported only twice before. We discuss the clinical features and diagnosis of juvenile polyposis and the treatment options. Although juvenile polyposis is a rare condition in children, it should be considered in the differential diagnosis of life-threatening GI hemorrhage.
Cap polyposis is a disorder characterized by bloody diarrhea with rectosigmoid polyps covered by a cap of fibropurulent exudate. The pathogenesis is unknown, but histological features suggest that mucosal prolapse may play a role. Drug therapies are usually unsuccessful, and treatment requires sigmoid resection or, if the disease recurs after initial surgical resection, panproctocolectomy. We report the case of a 36-year-old woman with characteristic clinical, endoscopic, and histological features of cap polyposis. Investigations included normal anorectal manometry and defecography, without evidence of prolapse. The patient's disease was unresponsive to treatment with mesalamine, antibiotics, lidocaine enemas, and corticosteroids. One infusion of infliximab 5 mg/kg provided dramatic symptomatic improvement but minimal endoscopic or histological change. After 4 infliximab infusions at 8-week intervals, endoscopy of the rectum and sigmoid colon was normal, and biopsies showed complete histological resolution of the inflammatory process. Well-being with normal endoscopy and histology has been maintained at 38 months, without further treatment. It was concluded that infliximab is effective therapy for cap polyposis and avoids the requirement for surgery. No clinical evidence was obtained to support mucosal prolapse as a causative factor, but the response to infliximab suggests a role for tumor necrosis factor-alpha in the pathogenesis of this disorder.
This case report describes a 68-year-old man who presented with bronchiolitis obliterans organizing pneumonia (BOOP) and gastric carcinoma. During evaluation, including a colonoscopy, he was found to have distal colitis and a giant polypoid lesion in the cecum that was diagnosed as localized giant inflammatory polyposis (LGIP) by magnifying colonoscopy. The patient was treated over a period of 3 years without surgery, and the LGIP was reduced in size during the follow-up period. Magnifying observation was useful to distinguish LGIP from a neoplastic lesion.
To determine the frequency, mutation spectrum and phenotype of the recently described autosomal recessive MUTYH-associated polyposis (MAP), we performed a systematic search for MUTYH (MYH) mutations by sequencing the complete coding region of the gene in 329 unselected APC mutation-negative index patients with the clinical diagnosis of familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). Biallelic germline mutations in MUTYH were identified in 55 of the 329 unselected patients (17%) and in another 9 selected index cases. About one-fifth (20%) of the 64 unrelated MAP patients harboured none of the 2 hot-spot missense mutations Y165C and/or G382D. Including 7 affected relatives, almost all MAP patients presented with either an attenuated (80%) or with an atypical phenotype (18%). Fifty percentage of the MAP patients had colorectal cancer at diagnosis. Duodenal polyposis was found in 18%, thyroid and stomach cancer in 1 case, other extraintestinal manifestations associated with FAP were not observed. In 8 families, vertical segregation was suspected; in 2 of these families, biallelic mutations were identified in 2 generations. Monoallelic changes with predicted functional relevance were found in 0.9% of the 329 patients, which is in accordance with the carrier frequency in the general population. In conclusion, biallelic MUTYH mutations are the underlying genetic basis in a substantial fraction of patients with adenomatous polyposis. The phenotype of MAP is best characterised as attenuated or atypical, respectively. Colorectal surveillance starting at about 18 years of age is recommended for biallelic mutation carriers and siblings of MAP patients, who refuse predictive testing.
We report an interesting case of primary intestinal T-cell lymphoma (ITL) resembling lymphomatous polyposis (LP) in a 24-year-old man. The neoplasm macroscopically showed numerous small polyps throughout the colon and microscopically showed diffuse proliferation of small-sized tumor cells with occasionally cleaved or irregularly shaped nuclei. The tumor cells were immunohistochemically positive for CD3, CD8, TIA-1, and CD56, and a polymerase chain reaction study showed a single band, indicating monoclonal rearrangement of the T-cell receptor beta gene. The phenotypic features in the current case are consistent with those of ITL derived from cytotoxic CD56+ CD8+ intraepithelial lymphocytes. This is the second documented case of primary ITL with a morphologic pattern of LP.
Cronkhite-Canada syndrome was first described in 1955. The clinical features of this rare syndrome of unknown etiology include nonhereditary gastrointestinal polyposis together with diarrhea, nail dystrophy, alopecia, and hyperpigmentation of the skin. This syndrome has been divided into five clinical types based on initial symptoms. We describe a case of Cronkhite-Canada syndrome presenting with taste disturbance as the major symptom, present a comprehensive review of the literature concerning this rare syndrome, and suggest therapeutic treatment options.
CONTEXT: Patients with hyperplastic polyposis coli syndrome are thought to harbor precursor lesions of a proposed hyperplasia-carcinoma pathway in colorectal cancer, but morphologic recognition of such lesions remains difficult. Hypermethylation of the secreted Frizzled receptor protein 1 gene on chromosome 8p12 is one of the earliest molecular alterations in colorectal carcinogenesis, potentially disrupting the Wnt signaling cascade of cellular growth control. OBJECTIVE: To determine if hyperplastic polyps from patients with hyperplastic polyposis coli syndrome show a distinct immunohistochemical expression pattern for mismatch repair proteins and secreted Frizzled receptor protein 1 compared to their sporadic counterparts. DESIGN: Immunohistochemical studies (secreted Frizzled receptor protein 1, 3 mismatch repair proteins, and p53) were performed on 23 hyperplastic polyps, 6 synchronous colon cancers, and normal colonic mucosa from 6 patients with hyperplastic polyposis coli syndrome and were compared with studies of sporadic hyperplastic polyps obtained from 13 matched control subjects. RESULTS: The staining pattern for the mismatch repair proteins MLH-1, MSH-2, and MSH-6 did not differ between sporadic and syndromic hyperplastic polyps. In contrast, 52% of syndromic hyperplastic polyps showed a reproducible and distinct staining pattern for secreted Frizzled receptor protein 1 that was not seen in control specimens and that was associated with larger polyp size (P =.002) and location in the proximal colon (P =.01). CONCLUSIONS: Some hyperplastic polyps from patients with hyperplastic polyposis coli syndrome show a secreted Frizzled receptor protein 1 immunophenotype that could indicate alterations of cellular growth control. These findings may help identify precursor lesions in the proposed hyperplasia-carcinoma pathway of colorectal carcinogenesis.
Cronkhite-Canada syndrome is an infrequent, nonadenomatous, acquired polyposis that is associated with ectodermic alterations. The etiopathogenesis and optimal therapeutic management are unknown. We present a case of Cronkhite-Canada syndrome in a 58-year-old man who, after combined treatment with corticosteroids, disodium cromoglycate, loratadine, ciprofloxacin, and zinc, showed complete clinical and partial endoscopic remission. The polypoid lesions of Cronkhite-Canada syndrome can be reversed with medical treatment. Consequently, the natural history of the disease can be modified and its prognosis improved.
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.
We describe a 70-year-old woman who presented with watery diarrhea and was found to have gastric and colonic polyposis, cutaneous hyperpigmentation, alopecia and onychodystrophy (Cronkhite-Canada syndrome). Histology of a polyp from the stomach showed features of juvenile or retention type (hamartomatous) polyp. One colonic polyp revealed features of tubular adenoma, with moderate dysplasia. Another large pedunculated colonic polyp showed a tubulovillous adenoma with a focus of well-differentiated adenocarcinoma confined to the submucosa of the stalk. Adenomatous and carcinomatous epithelial changes can occur in Cronkhite-Canada syndrome.
A 64-year-old man, who came to us with diarrhea, presented with ectodermal changes such as hyperpigmentation, alopecia, and onychatrophy, and was affected by polyposis in the colorectum and stomach. The polyps were histologically consistent with those in Cronkhite-Canada syndrome (CCS). Interestingly, the patient also had colon cancer, as well as portal thrombosis and a high concentration of antinuclear antibody. Treatment with prednisolone ameliorated the symptoms and the gastrointestinal polyposis, while the cancer was successfully treated with a hemicolectomy. Six months after the surgery, the patient developed nephropathy, with nephrotic-range proteinuria, without recurrence of the cancer. The biopsied renal specimen showed membranous glomerulonephritis. This is a rare case of CCS associated with various complications such as colon cancer, portal vein thrombosis, a high titer of antinuclear antibodies, and membranous glomerulonephritis. Although the pathogenesis of CCS is essentially unknown, these complications might have been indicative of an underlying immunological abnormality.
A case involving a 31-year-old woman with active ulcerative colitis is described. She suffered symptoms of infraumbilical abdominal pain, severe diarrhea, and low-grade fever that did not improve with conventional treatment, including antidiarrheal drugs and antibiotics. Ulcerative colitis was diagnosed according to endoscopic and histologic findings. She was treated with prednisolone and sulfasalazine, and her symptoms disappeared after 1 month. Sulfasalazine therapy was continued for 3 months, and the patient's condition remained stable for 4 years. Recently, she was admitted with abdominal pain, severe diarrhea, and melena. She was again treated with prednisolone and intravenous hyperalimentation, but her symptoms did not improve. Colonoscopy showed multiple ulcers with bleeding and polyposis and severe edema in the colon. In addition, she had a high blood endotoxin concentration (38.0 pg/ml; normal < 9.8 pg/ml). She underwent polymyxin B-immobilized fiber (PMX-F) hemoperfusion therapy twice. After 2 weeks, her symptoms resolved completely, colonoscopy showed disappearance of the edema, revascularization of the mucosa, and improvement of the ulcers, and blood endotoxin concentration decreased to 5.0 pg/ml. These results suggest that PMX-F treatment may be beneficial for the management of ulcerative colitis with endotoxemia.