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Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall.

Early difficulties with the interpretation of the histopathology caused overdiagnosis of cancer in the Peutz-Jeghers syndrome; and there is still controversy about the magnitude of risk of gastrointestinal carcinoma. Most workers now believe that there is a small but definite increase in the incidence of gastrointestinal carcinoma in Peutz-Jeghers polyps and most of these cancers occur in the upper gastrointestinal tract. In a review of 491 Peutz-Jeghers polyps in the records of St. Mark's Hospital Pathology department, misplacement of epithelium was found in approximately 10% of small intestinal polyps and closely mimicked adenocarcinoma. This "pseudoinvasion" was not observed in polyps of the stomach or colon. The epithelial misplacement may involve all layers of the bowel wall; and the most helpful histological discriminators include a lack of cytological atypia, the presence of the normal epithelial cell subtypes and a brush border, hemosiderin deposition, and intramural mucinous cysts. Epithelial misplacement may account for the overdiagnosis of carcinoma arising in Peutz-Jeghers polyps as reported in the literature.

Adenoma

Solitary hamartomatous duodenal polyp; a different entity: report of a case and review of the literature.

Solitary hamartomatous duodenal polyps are a clinical entity considered until now to express an incomplete or initial form of Peutz-Jeghers syndrome (PJ syndrome). Following our experience of 1 case, we analyzed the clinical characteristics of the 12 previously reported cases of solitary hamartomatous duodenal polyps. In none of these cases did we find any documentation of mucocutaneous pigmentation, a family or personal history of intestinal polyps, or local neoplastic degeneration of the disease, and all cases presented during the fifth or sixth decade of life. Thus, we conclude that solitary hamartomatous duodenal polyps constitute a different entity to PJ syndrome, the most appropriate elective treatment for which is endoscopic electrosurgical polypectomy.

Adult

Epithelioid leiomyosarcoma originating in a hamartomatous polyp from a patient with Peutz-Jeghers syndrome.

A case of Peutz-Jeghers syndrome with long history and multiple resections is presented. Despite the large number of intestinal polyps in these patients, malignant transformations are rare. In this case, an epithelioid leiomyosarcoma developed within a single polyp. At the time of resection this tumor had already metastasized to the liver. The histology and ultrastructure of this tumor is presented. Reviews of the clinical syndrome and leiomyosarcoma are given, with discussion of the possible interaction of these two processes as presented in this patient.

Adult

Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.

We report on a 7 1/2-year-old boy with macrocephaly, hamartomatous intestinal polyps, and café-au-lait spots on the penis. These abnormalities were reported in two other individuals thought to have the Sotos syndrome. We think that this triad of abnormalities represents a new disorder, the Ruvalcaba-Myhre-Smith syndrome. Prominent Schwalbe lines, prominent corneal nerves, and lipid storage myopathy also appear to be part of the syndrome. Macrocephaly, similar facial appearance, and a hamartomatous polyp in the mother suggest dominant inheritance.

Child

[Multiple odontomas in Gardner's syndrome].

A case of Gardners syndrome is described. This illness, inherited by autosomal dominance clinically shows multiple soft tumours, osteotomatosis, occasionally also odeontomata and polyposis intestinalis. The almost invariably occuring malignant degeneration of single intestinal polyps has led to the inclusion of Gardner's syndrome into the group of precancerous conditions.

Colonic Diseases

Phenotype and cancer risk of various polyposis syndromes.

The gastrointestinal polyposis syndromes are disorders with multiple intestinal polyps. Three of these disorders, familial adenomatous polyposis, Peutz-Jeghers syndrome and juvenile polyposis are associated with increased risk of colorectal as well as extracolonic cancers. A description of the phenotype and associated cancer risk is provided for each.

Adenomatous Polyposis Coli

Histamine release from human colonic mucosa in response to anti-IgE.

Testing of tissue particles for mediator release may be very useful for the diagnosis of localized immunological abnormalities or allergies. The aim of this study was to set up a general procedure to test the reaction of large bowel mucosa to stimuli via the IgE-mediated pathway. Therefore, tissue particles from normal subjects and from patients suffering from different diseases (Crohn's disease, ulcerative colitis, intestinal polyps) obtained at routine coloscopy were exposed to either Hanks or anti-IgE solution to determine the spontaneous or the anti-IgE-induced histamine release, expressed as the percentage of the total histamine content of the biopsy. Histamine was measured using the single isotope radioenzymatic assay. In general, whereas anti-IgE interestingly reduced the histamine release compared to the spontaneous in most of the patients within the polyps group, there was a stimulating effect of anti-IgE throughout all other groups. Thus, the study confirms the possibility of performing functional tests using biopsy particles from the colon.

Antibodies, Anti-Idiotypic

Ruvalcaba-Myhre-Smith syndrome.

In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.

Child, Preschool

Multiple sebaceous tumors and carcinomas of the colon. Torre syndrome.

The association of multiple tumors of the sebaceous glands with primary visceral carcinomas was described for the first time by Torre in 1967. Another 26 cases with similar features have been subsequently reported in the literature. In 12 of these patients isolated or multiple keratoacanthomas and in 8 intestinal polyps were also found. The authors add the report of a personal case. The patient is a 54-year-old man who, during a period of 8 years, has shown multiple sebaceous tumors, 1 keratoacanthoma, and 3 primary adenocarcinomas of the colon. The outline and nosologic position of this pathologic conditions are discussed.

Adenocarcinoma

Neurocrest and colonic tumors: new clinical syndrome. Report of three cases.

This report describes three patients with both multiple intestinal polyps and tumors of neural crest origin. This combination of findings may represent a new clinical syndrome. The embryologic relationships between tumors derived from endoderm and tumors derived from neurocrest are described. An inherent defect in tissue proliferation or repair is postulated to explain the abnormal growth in these two different cell lines.

Adenoma

[Changes in lactate dehydrogenase isoforms in the process of oncogenesis].

Isoenzymes of lactate dehydrogenase were studied by disc-electrophoresis in polyacrylamide gel, and in the clinic--in 1% agar gel. Oncovirus A12 invasion of the culture of rat embryo fibroblasts (REF) was found to result in the increased percentage of the cathode fractions activity (LDG-4 and LD-5) and in the disappearance of LDG-1 yet during the first day of the experiment prior to hypoxia and enhanced proliferation, i. e. it is most likely to be primary. In the homogenates of cancerous tumor and large intestine polyps of man also a reliable increase of the cathode and a decrease or disappearance of the anode fractions accur. A correlation of the experimental and clinical data allowed a suggestion to be made that LDG isoenzymes changes are genetically conditioned and play an important role in the process of oncogenesis, providing conditions for the increased intensity of glycolysis and proliferation.

Adenoviruses, Human

Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome.

Congenital hypertrophy of the retinal pigment epithelium was seen in three affected members of a kindred with Gardner's syndrome. The latter consists of a triad of many intestinal polyps, hard-tissue abnormalities, and soft-tissue abnormalities. Although the appearance of the individual lesions in our patients was typical of hypertrophy of the retinal pigment epithelium, the following atypical features were present: multiple lesions per eye; bilateral occurrence; familial transmission; and association with systemic disease. Ophthalmoscopic examination can help identify children who are at risk of developing polyposis and carcinoma of the colon. In some instances, Gardner's syndrome may be diagnosed in a patient and his family as a result of observing the fundus lesions.

Adult

A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome.

Four patients with the Ruvalcaba-Myhre-Smith syndrome (primary macrocephaly with associated anomalies including pigmented macules on the penis in affected males, hamartomatous intestinal polyps, and lipomas) had evidence of delayed psychomotor development and/or hypotonia in childhood. Electromyography in 3 patients showed evidence of a myopathic process. Muscle biopsy in all four demonstrated a lipid storage myopathy with increased numbers of neutral lipid droplets--predominatly in type 1 fibers. The type 2 fibers were consistently smaller than expected. Electron microscopy was unremarkable except for evidence of lipid accumulation. Muscle carnitine and carnitine palmityl transferase levels were normal in one patient. This appears to be a previously unreported type of lipid storage myopathy characteristic of the Ruvalcaba-Myhre-Smith syndrome, a probable autosomal dominant trait.

Adult