1/19. Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis.Familial adenomatous polyposis (FAP) is a rare autosomal dominant precancerous condition of the colon caused by mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. FAP is characterized by the appearance of innumerable adenomatous polyps throughout the large bowel. Fundic gland polyps are the most common gastric lesion in FAP. It is generally believed that fundic gland polyps have little or no potential for malignant transformation in the population at large, and only a few case reports describe the development of high grade dysplasia or gastric adenocarcinoma associated with diffuse fundic gland polyposis in patients with FAP. We report the second case of gastric adenocarcinoma intimately associated with fundic gland polyposis in a family with an attenuated form of FAP. The patient had undergone routine screening per current guidelines because of his known mutation in the APC gene. This suggests that malignant transformation of fundic gland polyps in patients with FAP occur more frequently than previously believed. Current screening recommendations may not be sufficient for patients with FAP or its attenuated forms.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/19. Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case.We herein present a case of attenuated familial adenomatous polyposis (AFAP) with advanced rectal cancer in a 16-year-old boy. His mother and younger brother both had subcutaneous soft tissue tumors in the back and sparse-type colorectal polyposis. His mother also had dental anomalies and gastric fundic gland polyposis. The patient was admitted to our hospital for investigation of bloody stools. barium enema and colonofiberscopy revealed advanced rectal cancer and sparse (<50) colorectal polyps. He also had dental anomalies, a subcutaneous soft tissue tumor in the back, and gastric fundic gland polyposis as extracolonic manifestations. A total proctocolectomy and ileoanal anastomosis were performed, and histological examination of the resected specimens confirmed moderately differentiated adenocarcinomas of the rectum with metastases to the regional lymph nodes. The other colorectal polyps were tubular adenomas with no evidence of malignancy. Germline mutations in the APC gene were observed in codons 486, 545, 1493, and 1556. This case serves to demonstrate that a total proctocolectomy with ileoanal anastomosis should be the procedure of choice for young patients found to have advanced rectal cancer associated with FAP.- - - - - - - - - - ranking = 0.22222222222222keywords = gland (Clic here for more details about this article) |
3/19. Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case.INTRODUCTION: patients with familial adenomatous polyposis develop colorectal cancers if left untreated. As indicated in patients with familial adenomatous polyposis, prophylactic colectomy has been recommended even in a milder colonic phenotype referred to as attenuated familial adenomatous polyposis. However, therapeutic strategies in attenuated familial adenomatous polyposis are still controversial. methods: We report a patient with attenuated familial adenomatous polyposis who has been treated with sulindac for five years. During the period of observation, she has been carefully followed up by chromoscopic and radiographic surveillance. Immunohistochemical study for cyclooxygenase-2 and genetic analysis in the adenomatous polyposis coli gene was also performed. RESULTS: Continuous administration of sulindac resulted in obvious regression of both colorectal adenomatous polyps and gastric fundic gland polyps, and no cancers developed during the observation period. Immunohistochemical study showed the decrease of cyclooxygenase-2-positive epithelial cells in colorectal polyps by the treatment. The genetic analysis revealed a C to A substitution at nucleotide 481 of her germline adenomatous polyposis coli gene, which resulted in a nonsense mutation at codon 161. CONCLUSIONS: Our case suggests that treatment with sulindac accompanied by intensive colonoscopic surveillance may be a choice of management for attenuated familial adenomatous polyposis.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
4/19. Surface structure of single-gland adenoma in familial adenomatous polyposis.Magnifying videoendoscopic observation of a minute lesion with a single IIIL type cryptal orifice was reported. This minute lesion was a single-gland adenoma accompanied histopathologically by a bud of adenomatous gland and was located in the upper part of the mucosa. This finding regarding a pit pattern should make possible the endoscopic diagnosis of a colonic single-gland adenoma.- - - - - - - - - - ranking = 0.77777777777778keywords = gland (Clic here for more details about this article) |
5/19. pulmonary sclerosing hemangioma associated with familial adenomatous polyposis.A 45-year-old woman presented with asymptomatic solid tumor in the lower right lobe of the lung. Histologically, the tumor comprised a monolayer of surface cells and round stromal cells displaying sclerotic areas. Immunohistochemical studies suggested a diagnosis of sclerosing hemangioma. Interestingly, morular lesions were also observed. Analyses of the gastrointestinal (GI) tract showed mild familial adenomatous polyposis (FAP) and numerous fundal gland polyps, indicating attenuated FAP (AFAP). All components of the sclerosing hemangioma displayed aberrant nuclear and cytoplasmic expression of beta-catenin. However, such findings were much weaker in adenomas of the GI tract and were barely observed in fundal gland polyps. These results strongly suggest an association between sclerosing hemangioma and the AFAP. To the best of our knowledge, this is only the second report of lung tumor associated with FAP and is the first describing an association with sclerosing hemangioma. A new category of FAP-associated lung tumors may be indicated.- - - - - - - - - - ranking = 0.22222222222222keywords = gland (Clic here for more details about this article) |
6/19. High-grade dysplasia associated with fundic gland polyposis in a familial adenomatous polyposis patient, with special reference to APC mutation profiles.We report a patient with familial adenomatous polyposis who developed high-grade dysplasia against a background of fundic gland polyposis. Two large high-grade dysplasia lesions were found in the gastric body, where numerous fundic gland polyps were present. In both lesions, the dysplastic epithelium covered non-neoplastic oxyntic glands that occasionally exhibit cystic changes. A genetic analysis for APC (adenomatous polyposis coli) revealed a somatic 50-bp deletion involving codons 1502-1517 and 2-bp deletion at codon 1465 in each lesion of high-grade dysplasia. In contrast, six of the 18 fundic gland polyps were found to harbor an identical mutation: 1-bp insertion at codon 1556. Both lesions of high-grade dysplasia and the fundic gland polyps were similarly located in the fundic gland area and were caused by the inactivation of APC; however, their mutation profiles of APC were different. These results imply that fundic gland polyps and high-grade dysplasia of the stomach have distinct preferences for APC genotypes in their development.- - - - - - - - - - ranking = 1.2222222222222keywords = gland (Clic here for more details about this article) |
7/19. Serrated adenoma of the duodenum.The duodenum is the most common site for extracolonic adenomas in patients with familial adenomatous polyposis (FAP). These adenomas are usually tubular, villous, or tubulovillous. This report describes a patient with FAP who had a duodenal adenoma with a different histology--it had the microscopic attributes of a serrated adenoma--tumours that are relatively common in the colorectal mucosa and are occasionally found in the stomach. A 78 year old man with FAP and multiple adenomas was colectomised and the rectum amputated. Several years later he developed silent jaundice. The surgical specimen showed an adenomatous growth juxtaposing the papilla of Vater. The adenoma had epithelial fronds with crenated, sawtooth-like configurations caused by scalloped epithelial infolding. The nuclei covering the notched fronds were pleomorphic, stratified, either cigar shaped with irregular chromatin deposits or vesicular shaped with a large nucleolus. One area showed involvement of a duct by neoplastic epithelium with extension into periluminal glands. No invasive carcinoma was present. Serrated adenomas differ from tubular and villous adenomas in their histological organisation and their initial pattern of cell proliferation and genotypic aberration. Increased awareness of the existence of serrated neoplasms in the duodenum may result in similar cases being reported in the future.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
8/19. Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis.A 67 year old man with a clinical diagnosis of attenuated familial adenomatous polyposis (AFAP) and a past history of synchronous colon cancers in the transverse colon was also found to have an intraductal papillary mucinous neoplasm (IPMN) of the pancreas. In addition, several foci of heterotopic gastric oxyntic mucosa were noted in the duodenum, interspersed with flat and polypoid adenomas. The duodenal adenomas showed low grade dysplasia, loss of adenomatous polyposis coli (APC) protein expression, but retention of beta catenin staining, localised to the nucleus and cytoplasm. The IPMN in the pancreas showed an identical immunohistochemical profile to the duodenal adenomas. The heterotopic gastric foci in the duodenum were negative for the APC protein, and beta catenin staining was membranous in location. Although the patient did not show germline truncating APC mutations or mutations in the MYH gene, the past history, clinical features, and immunohistochemical profile of the various lesions suggest strongly that the IPMN is part of the spectrum of lesions encountered in AFAP. Whether the heterotopic oxyntic gastric mucosa in the duodenum is also related is unclear, but it may represent a forme fruste of fundic gland polyps.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
9/19. Oral contraceptives and polyp regression in familial adenomatous polyposis.Epidemiologic and experimental reports suggest that female hormones protect against the development of colorectal cancer, but studies are limited. We describe a patient in the placebo arm of a 4-year primary chemoprevention trial who developed adenomatous polyps and then had eradication of polyps after the administration of oral contraceptives. No change in the prostaglandin levels in the colonic mucosa was noted after polyp elimination, making nonsteroidal anti-inflammatory drug ingestion unlikely as a cause. This report represents the regression of colorectal adenomas with the use of estrogen/progesterone compounds.- - - - - - - - - - ranking = 0.11111111111111keywords = gland (Clic here for more details about this article) |
10/19. Attenuated familial adenomatous polyposis and muir-torre syndrome linked to compound biallelic constitutional MYH gene mutations.Attenuated familial adenomatous polyposis and muir-torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. muir-torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.- - - - - - - - - - ranking = 0.33333333333333keywords = gland (Clic here for more details about this article) |
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