1/523. Gardner's syndrome and steatocystoma multiplex. Two unusual genetically determined conditions occurring in same patient. A 43-year-old man is described who had Gardner's syndrome and steatocystoma multiplex. These two unusual genetically determined conditions were associated because he had inherited the Gardner's syndrome from his father and the steatocystoma multiplex from his mother. ( info) |
2/523. Morules with biotin-containing optically clear nuclei in colonic tubular adenoma. Morules have been reported in pulmonary endodermal tumors (PET) resembling fetal lung, in thyroid carcinoma, and in endometrial and colonic neoplasms. A morule has biotin-containing optically clear nuclei (OCN) in PET and thyroid carcinoma. biotin-containing OCN have been also reported in endometrial tissue during pregnancy and in endometrioid carcinoma of the ovary, and it has been postulated that morules or OCN develop under the influence of female sex hormones. The authors report here the first case, to their knowledge, of morules with OCN in a colonic adenoma from a 68-year-old man. The colonic polyp consisted of ordinary tubular adenomatous tissue and morules. Many cells in the morules contained OCN. The OCN were immunopositive for biotin and reacted with streptavidin. The neoplastic cells in the morules were immunopositive for oncofetal antigens. serum levels of female sex hormones were within the normal range, and no cells in the adenoma were immunopositive for receptors for progesterone and estrogen. The results indicate that OCN are rich in biotin and that morules may be embryologically immature elements that develop independently of influence by female sex hormones. ( info) |
3/523. Lhermitte-Duclos disease as a component of Cowden's syndrome. Case report and review of the literature. In recent years, 16 cases involving the association between Lhermitte-Duclos disease (LDD), which is a hamartomatous overgrowth of cerebellar tissue, and Cowden's syndrome (CS), an autosomal-dominant condition characterized by multiple hamartomas and neoplasias, have been reported. LDD may be one of the manifestations of CS. Recently, mutations of the PTEN/MMAC 1 gene, a tumor suppressor gene, have been found in families with CS, including four patients in whom LDD was diagnosed. The authors present a case of LDD in a 53-year-old woman who also had the typical mucocutaneous lesions found in CS, as well as goiter and intestinal polyposis. In this case, CS had never been suspected until the diagnosis of LDD was made. The mutation detected in the PTEN/MMAC 1 gene as well as neuropathological results are described. ( info) |
4/523. An unusual cause of rectal bleeding in a patient with cystic fibrosis. Here we identify a previously unreported cause of rectal bleeding (juvenile polyposis) in a patient with cystic fibrosis (CF). We believe this patient most likely has two coexisting genetic diseases. It also raises many issues about organ transplantation in a patient with medical conditions that individually increase the risk of gastrointestinal malignancy and stresses the diagnostic value of endoscopy in CF patients with rectal bleeding. ( info) |
| One of the accepted complications of colonoscopy is perforation. This is known to occur in greater frequency in patients having undergone previous pelvic or colonic surgery, as well as patients suffering from diverticulosis. A case is presented of colonic perforation during diagnostic examination in an area of adhesions secondary to pelvic surgery. Immediately after the perforation, the patient entered into vascular collapse and respiratory distress, with a distended abdomen. The introduction of a large bore intravenous catheter into the abdominal cavity with the release of the pneumoperitoneum resulted in an instantaneous return of vital signs and the patient subsequently underwent surgery and recovered. It is felt that this method of emergency treatment can be life-saving in a patient perforating during colonoscopy. ( info) |
6/523. Multiple lymphomatous polyposis of the gastrointestinal tract is a heterogenous group that includes mantle cell lymphoma and follicular lymphoma: analysis of somatic mutation of immunoglobulin heavy chain gene variable region. Multiple lymphomatous polyposis (MLP) is characterized by multiple polyps involving long segments of the gastrointestinal (GI) tract. MLP is thought to represent mantle cell lymphoma (MCL) of the GI tract; however, some cases of follicular lymphoma (FL) of the GI tract are found with a multiple polypoid appearance. In the present study, to clarify the cellular origin of MLP, clonal immunoglobulin heavy chain (IgH) gene rearrangement of four cases with MLP was amplified by polymerase chain reaction (PCR) and analyzed for the presence of somatic mutation. The IgH variable (VH) region sequences of three cases (CD5 CD10- cyclin d1 ) showed a little somatic mutation compared with the closest published germline. The other case (CD10 CD5- cyclin d1-) was highly mutated and showed intraclonal heterogeneity (ongoing somatic hypermutation). These data indicate that three of the cases with MLP are derived from pregerminal center B cells (mantle zone B cells) and one case with MLP from germinal center B cells. Our study suggests that MLP is a heterogenous group that includes MCL and FL. ( info) |
7/523. Laparoendoscopic excision of a duodenal mass. Large sessile lipomas, adenomas, and other tumors are often not amenable to endoscopic excision, due to the risk of bleeding or perforation. Resection of these lesions has traditionally required laparotomy with enterotomy for complete removal. A novel technique, described here, is the combination of laparoscopy and simultaneous endoscopy, allowing for complete removal of these lesions while preserving the benefits of minimally invasive surgery. ( info) |
8/523. Lesions associated with familial polyposis coli: studies of lesions of lesions of the stomach, duodenum, bones, and teeth. The entire gastrointestinal tract and bones were examined systematically in 24 patients (10 pedigrees) in whom familial polyposis coli was diagnosed. Polypoid lesions were observed in the stomach in as high as 68.2% of the cases, and in the duodenum in 90%. Abnormalities were noted in the skeleton in 50% and in the mandible in 81.3%. The authors emphasize the possibility that familial polyposis coli is substantially the same entity as Gardner's syndrome. ( info) |
9/523. Abdominal desmoid masses in Gardner's syndrome. Abdominal masses, "desmoid tumors," occur in approximately 4% of patients with Gardner's syndrome, usually 1--3 years after total colectomy. Histologic sections usually resemble those of an infiltrating fibrous tumour, a desmoid lesion. The radiographic pattern may be similar to any diffuse abdominal retroperitoneal tumor, metastatic disease, lymphoma, or possibly retractile mesenteritis. The clinical setting usually differentiates these entities. ( info) |
10/523. Anal intraepithelial neoplasia in an inflammatory cloacogenic polyp. A rare case of anal intraepithelial neoplasia arising in an inflammatory cloacogenic polyp is reported. While the occurrence of neoplasia complicating benign anal conditions is recognised, this case re-emphasises the need for careful histological examination of all perianal lesions. ( info) |