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Query: UMLS:C0021933 (intussusception)
 3,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family with Peutz-Jeghers syndrome is reported, colonic involvement having been demonstrated on several affected members. Of the 50 members of the family about whom we could get informations, 21 had the characteristic cutaneous lesions (and usually had had some manifestation of the intestinal disease). Our first patient had a colonic carcinoma, and we could detect at least another colonic carcinoma in the family. A third attained member of the family was known to have died from "throat cancer". The most frequent clinical manifestations of this family patients are intussusception related abdominal crisis of colicky pain and rectorrhagy. In Peutz-Jeghers syndrome, there is a slight increase in the risk of malignancy, and digestive cancer can arise from coexistent adenomas, from cancerous changes of hamartomas, or "de novo", i.e., appear on previously normal mucosa.
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PMID:Peutz-Jeghers syndrome: an increased risk of neoplasia. 356 69

Peutz Jeghers (PJ) polyps are rare hamartomatous tumors of the gastrointestinal tract frequently associated with skin and mucosal pigmentation. Despite their benign nature there is a certain increased risk of progression to malignancy in some cases, justifying a sustained follow-up of the patients. We present 3 cases of Peutz Jeghers syndrome (PJS) diagnosed in our hospital on gastrointestinal specimens obtained by endoscopy and opened surgery. We analyzed different degrees of dysplastic changes, epithelial intussusception, association with other types of polypoid lesions and other various aspects possibly related with disease progression. Clinico-pathological correlations were made. Two of these cases were related (mother and daughter); both of them were operated in another hospital for small bowel tumors with a subsequent diagnosis of adenocarcinoma. The daughter (28 years old) was referred to our hospital for endoscopic follow-up; a small polyp of the transverse large bowel was excised by colonoscopy with a histopathologic diagnosis of PJ polyp; a careful histopathologic reevaluation of both specimens of enterectomy (slides and paraffin blocks) revealed an overdiagnosis of cancer due to the epithelial cystic dilatation and pseudoinvasion in both patients. The other case showed diagnostic changes of PJS and also various aspects of adenomatous polyps some of them with mild and moderate dysplastic changes. When a PJ polyp is diagnosed, the possibility of pseudoinvasion should be kept in mind, in order to avoid overdiagnosis of malignancy; also, due to the fact that the malignant transformation of a PJ polyp is still on debate (hamartoma-dysplasia-carcinoma sequence versus malignant transformation of an adenomatous aria of a hamartoma versus coincidental association of a digestive cancer due to genetic aberrations of PJS), all the other associated microscopic aspects of the lesion should be carefully analyzed.
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PMID:Malignancy and overdiagnosis of malignancy in Peutz Jeghers polyposis. 1928 92

Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.
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PMID:Peutz-Jeghers syndrome: a systematic review and recommendations for management. 2058 Dec 45

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disease linked to a mutation of the STK 11 gene and is characterized by the development of benign hamartomatous polyps in the gastrointestinal tract in association with a hyperpigmentation on the lips and oral mucosa. Patients affected by PJS have an increased risk of developing gastrointestinal and extra-digestive cancer. Malignancy most commonly occurs in the small-bowel. Extra-intestinal malignancies are mostly breast cancer and gynecological tumors or, to a lesser extent, pancreatic cancer. These polyps are also at risk of acute gastrointestinal bleeding, intussusception and bowel obstruction. Recent guidelines recommend regular small-bowel surveillance to reduce these risks associated with PJS. Small-bowel surveillance allows for the detection of large polyps and the further referral of selected PJS patients for endoscopic enteroscopy or surgery. Video capsule endoscopy, double balloon pushed enteroscopy, multidetector computed tomography and magnetic resonance enteroclysis or enterography, all of which are relatively new techniques, have an important role in the management of patients suffering from PJS. This review illustrates the pathological, clinical and imaging features of small-bowel abnormalities as well as the role and performance of the most recent imaging modalities for the detection and follow-up of PJS patients.
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PMID:Update on imaging of Peutz-Jeghers syndrome. 2515 88

The ileum generally works well, whereas Meckel's diverticulum (MD) has complications including bleeding, obstruction, intussusception, diverticulitis, and perforation. Our knowledge of the pathological features of the MD muscular layer and mucosa is limited. We report a rare case of giant MD that was diagnosed by double-balloon enteroscopy (DBE). The pathological features of the mucosa were evaluated by investigation for Helicobacter pylori; and the nuclear proliferation antigen Ki-67, the gastrointestinal cancer-associated biomarker TRAK1, synaptophysin, and neurofilament were used to precisely define the mucosa and neuronal and ganglion cell components. The pathophysiology of MD is discussed and a literature review is presented. We believe that this is the first report of a systematic histochemical analysis of the mucosa and myenteric plexus of MD and the normal ileum. The present investigation may provide novel evidence of pathological abnormalities resulting in the complex complications of MD.
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PMID:Pathological feature of a giant ileal Meckel's diverticulum with ectopic gastric mucosa. 2619 2

The Peutz Jeghers Syndrome (PJS) is characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation, are at high risk of bowel resections because ischemia secondary to intussusception. The risk of gastrointestinal cancer is nine more than the general population. We report five patients diagnosed with SPG, four had intestinal intussusception, one upper gastrointestinal bleeding and one died with pancreatic neoplasia.
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PMID:[Peutz Jeghers syndrome. Report of five cases]. 2740 94

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous pigmentations. Main symptoms of PJS in childhood are abdominal pain, obstruction, intussusception, and bleeding from hamartomatous polyps. PJS carries a high risk of gastrointestinal cancer with advancing years. Although, intussusception has been reported as a well-known complication of PJS, recurrent intussusception as an alarming finding in a patient with normal gastrointestinal endoscopy is uncommon. A 7-year-old boy who had recurrent intussusception episodes and diagnosed with PJS histopathological confirmation after surgical excision of involved bowel segments is presented to discuss the clinical features and treatment options of recurrent intussusception as a presenting finding of PJS.
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PMID:Peutz-Jeghers syndrome: an unusual cause of recurrent intussusception in a 7-year-old boy. 2862 Oct 96