Intramucosal Gastric Carcinoma in a Patient with Familial Polyposis Coli

Upper gastrointestinal polyps commonly occur in patients with familial polyposis coli; but the occurrence of gastric carcinoma is very rare in this disorder. We report a case of intramucosal gastric carcinoma in a patient with familial polyposis coli and multiple gastrointestinal adenomatous polyps.     

A Clinical and Histopathological Study of Gastric Polyps in Familial Polyposis Coli

Fundic gland area gastric polyps in familial polyposis coli (FPC) were compared with those in non-familial polyposis coli clinicopathologically to elucidate their histogenetic and biological characteristics. Some differences were observed in age, sex, and radiological and endoscopical features. Although the polyps were similar histologically, they showed an apparent histochemical difference between the two groups in periodic borohydride technique/potassium hydroxide/periodic acid-Schiff stain which demonstrates O-acylated sialic acid. The superficial and foveolar epithelium of the polyps was positive in 10 of 12 familial polyposis coli cases, while the epithelium was positive in only one of 13 non-familial polyposis coli cases with the same staining. These results suggest differences between the two groups in the degree of epithelial intestinal metaplasia. The presence of gastric polyps with O-acylated sialic acid therefore indicates the necessity of examination of the colorectum.     

Endoscopic Leukemic Polyposis

Gastrointestinal involvement in leukemia and lymphoma is common and may present with varying clinical manifestations (1). We report a case of gastrointestinal bleeding with endoscopic findings of diffuse leukemic polyposis and the response to radiotherapy, with a brief review of the literature.     

Duodenal Polyposis and Malignancy in a Case of Familial Polyposis Coli

Familial polyposis coli is characterized by progressive adenomatosis with ultimate progression to colon cancer. It is becoming clear that these patients also have a high incidence of upper gastrointestinal adenomatous polyps, with some developing periampullary malignancies similar to those seen in Gardner's syndrome. This has led to recommendations for periodic endoscopic screening of asymptomatic polyposis patients. We report a patient with familial polyposis coli who developed an adenocarcinoma in the distal duodenum. This case points out the importance of screening the upper gastrointestinal tract in patients at risk.     

A Case of Familial Adenomatous Polyposis Associated with Colon Cancer,Ureteral Cancer and Two Early Gastric Cancers

A rare case of Familial Adenomatous Polyposis (FAP), associated with colon cancer, ureteral cancer and two early gastric cancers, is reported. A 42-year-old male was admitted to our hospital for evaluation of bloody stools and macrohematuria. There were six FAP patients in his family line, spanning four generations, and five had developed colon cancers. A barium enema revealed diffuse and scattered polyposis throughout the colon and an apple core sign in the descending colon. Abdominal CT disclosed right hydronephrosis with a markedly dilated ureter. Surgery was undertaken and included total colectomy, mucosal proctectomy, ileoanal anastomosis and right nephrectomy with ureteral resection, under a diagnosis of colon cancer and complete right ureteral stenosis. The resected specimens revealed a colon cancer in the descending colon, 50×32×15 mm in size and a ureteral cancer in the lower part of the right ureter, 30×16×16 mm in size. Four years later, he visited our hospital for detailed gastric examination, because gastric abnormalities had been pointed out in a health screening examination. Upper Gl X-ray and endoscopic studies disclosed two cancerous lesions in the gastric antrum, one being a lie lesion in the anterior wall and the other a Ha + lie lesion in the posterior wall. Subtotal gastrectomy was performed and histological study revealed that invasiveness was limited to the submucosa in both lesions. No case of FAP associated with ureteral cancer has previously been reported and only 28 cases with associated gastric cancer have appeared in the Japanese literature.     

Attenuated Familial Adenomatous Polyposis

PURPOSE: Familial adenomatous polyposis is a well-described, autosomal dominant, inherited syndrome characterized by diffuse polyposis of the colon and rectum as well as various upper gastrointestinal and extraintestinal manifestations. A subset of patients present with fewer colorectal polyps, later age of onset of polyps and cancer, and a predilection toward involvement of the proximal colon. This variant of familial adenomatous polyposis is known as attenuated familial adenomatous polyposis. The purpose of this review is to summarize current knowledge regarding this poorly understood entity and propose guidelines for diagnosis, surveillance, and surgical management. METHODS: The MEDLINE database was searched from 1985 onward using the keywords, attenuated familial adenomatous polyposis, AFAP, adenomatous polyposis coli gene, and APC gene. Additional articles were identified through the reference sections of retrieved papers. All papers that pertained to attenuated familial adenomatous polyposis or mutations in the APC gene producing an attenuated phenotype were included. RESULTS: Attenuated familial adenomatous polyposis is transmitted in an autosomal dominant fashion. Several distinct mutations within the APC gene have been associated with an attenuated phenotype, but variability of disease expression within kindreds possessing identical mutations makes classification difficult. Polyps are diagnosed at a mean age of 44 years, with cancer diagnosed at a mean of 56 years of age. Frequent involvement of the proximal colon necessitates the use of colonoscopy for surveillance, and infrequent involvement of the rectum supports the role of a total abdominal colectomy and ileorectal anastomosis. CONCLUSIONS: Although currently recognized as a distinct clinical entity, attenuated familial adenomatous polyposis may be part of a spectrum of disease that includes familial adenomatous polyposis and is caused by different mutations within the APC gene. Because of its unique characteristics, yet apparent overlap with familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, increased awareness of attenuated familial adenomatous polyposis should improve diagnosis, surveillance, and treatment strategies in this unique subset of familial polyposis syndromes.     

Small Bowel Polyposis Syndromes

Intestinal polyposis syndromes are relatively rare. However, it is important for clinicians to recognize the potential risks of these syndromes. Based on histology, these syndromes can be classified mainly into hamartomatous polyposis syndromes and familial adenomatous polyposis (FAP), which affects mainly the large intestine. This review discusses the clinical manifestations and underlying genetics of the most common small intestinal polyposis syndromes: Peutz-Jeghers syndrome (PJS), juvenile polyposis (JP), PTEN hamartoma tumor syndrome (PHTS), and the small intestinal implications of familial adenomatous polyposis (FAP).     

Umbilicated gastric polyposis. An indicator of metastatic gastric tumor.

A case of multiple centrally umbilicated gastric polyps is presented. Several endoscopic biopsies of the various polyps rapidly established the histological diagnosis of amelantoic melanoma. The significance and differential diagnosis of this endoscopic lesion is discussed.