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We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Until the advent of capsule endoscopy (CE) and device-assisted enteroscopy (DAE) coupled with the advances in radiology, physicians had limited diagnostic examination for small bowel examination. CE and new radiologic imaging techniques have made it easier to detect small bowel tumors. DAE allows more diagnosis and deeper reach in small intestine. CT enteroclysis/CT enterography (CTE) provides information about adjacent organs as well as pictures of the intestinal lumen side. Compared to CTE, Magnetic resonance enteroclysis/enterography provides the advantage of soft tissue contrast and multiplane imaging without radiation exposure. Treatment and prognosis are tailored to each histological subtype of tumors.

Intussusception is a rare cause of intestinal obstruction in adults and represents a diagnostic challenge for the surgeon. In the majority of cases, presenting symptoms are not specific, making preoperative diagnosis difficult. Several medical conditions may cause intestinal intussusception. We present the case of a 16-year-old female patient with intussusception due to a hamartomatous Peutz-Jeghers type polyp. This is an extremely rare case in which the first manifestation of the intestinal polyp was jejunojejunal intussusception very close to the duodenojejunal junction, with a necrotic intussusceptum about 50 cm long. The patient was treated successfully with enterectomy and end-to-end anastomosis. Postoperative course was uneventful and the patient is currently under gastroenterological and genetic investigation to exclude the diagnosis of Peutz-Jeghers syndrome.

Background: Capsule endoscopy is recommended for children with Peutz-Jeghers syndrome as young as 8 years of age. Aim of our study was to evaluate the contribution of capsule endoscopy in managing risk of further obstructive complications., Methods: A retrospective analysis of 27 children who received at least 1 capsule endoscopy was conducted. Peutz-Jeghers syndrome was diagnosed based on the presence of an STK11 gene mutation or on the association of a hamartoma with 2 of 3 criteria (family history, mucocutaneous pigmentation, small bowel polyposis)., Results: Thirty-seven capsule endoscopies were performed in 27 patients. The median age at first endoscopy was 11.4 years (range, 5.4-20.9). Jejunal polyps were found in 72% and ileal polyps in 55% of capsules. The original recommendations were followed 20/30 times. Three gastroscopies, 4 colonoscopies, 7 double balloon enteroscopies and 1 intra-operative enteroscopy were performed after the capsules. These procedures revealed jejunal polyps in 9/9 cases (8/9 resected) and ileal polyps in 3/5 (all resected). One intussusception occurred 8.4 months after the capsule endoscopy and required surgical resection., Conclusion: Capsule endoscopy is easily feasible in Peutz Jeghers syndrome, but the practice of systematic and repeated procedures needs to be validated prospectively., (Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by melanotic macules, gastrointestinal polyps and increased cancer risks. We discuss several common scenarios encountered in the diagnosis and management of PJS patients. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org, stk11.com websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible. However, EUS is limited by variability and false positive results. Female patients with PJS are at risk for two rare cancers that require regular surveillance, adenoma malignum and ovarian sex cord tumors with annular tubules.

Background and Study Aims: Double-balloon enteroscopy (DBE) has been established as an invaluable tool for the diagnosis and treatment of small-bowel diseases. To evaluate complications, procedural data, and diagnostic yield of DBE examinations in Germany the presented database was introduced., Methods: A prospective database of all DBE examinations in 62 endoscopic centers in Germany was developed using data from a standard questionnaire. Information requested included data on personal information, indications, procedural information, interventions, diagnostic yield, and complications., Results: In total, 2245 DBE examinations in 1765 patients were reported prospectively over a 2-year period. The most frequent indication was overt or occult bleeding in the small intestine and the most frequent intervention was argon plasma coagulation of angiodysplasia. The rate of complete enteroscopy was only 23 %. A clear dependency of indication and diagnostic yield could be documented, ranging widely from a diagnostic yield of 16 % in patients with abdominal pain and 82 % in patients with Peutz-Jeghers syndrome. A total of 27 complications produced a complication rate for all examinations of 1.2 %. Pancreatitis was diagnosed in four cases (0.3 % of oral-route DBE). Perforations occurred in three patients, two of whom had undergone polypectomy in the small bowel (1.5 % of 137 polypectomies)., Conclusion: DBE is a safe endoscopic technique according to this large prospective database, with a complication rate of 1.2 %. The diagnostic yield of DBE examinations depends upon the quality of indication, and is very low in patients with the single indications of "diarrhea" or "abdominal pain"., (© Georg Thieme Verlag KG Stuttgart · New York.)

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome with an increased risk of polyposis complications and intestinal and extraintestinal tumours., Methods: During the last 15 years, we reviewed a series of 11 children with PJS, with special attention to evolution and follow-up. Diagnosis was based on at least 1 hamartomatous polyp associated with 2 of the 3 following criteria: family record of PJS, polyposis localised on small bowel, and mucocutaneous pigmentation. Diagnosis of PJS also could be raised by a single genetic analysis of STK11 gene., Results: Median age at beginning of symptoms was 6 years old. Seven of the 11 children had genetic tests, which were positive for STK11 gene mutation. Among the 10 children presenting with gastrointestinal complications, 8 were operated on, 6 had at least 1 small bowel resection, and 4 had repeat surgery for recurrent intussusceptions. In case of complications leading to a surgical procedure, we performed intraoperative enteroscopy to remove all large polyps. To prevent any polyposis complications, we suggest a complete check-up of polyposis topography with some of the new endoscopic tools, either double-balloon endoscopy or videocapsule endoscopy., Conclusions: Children with PJS have a high risk of numerous laparotomies due to polyps' complications. Therefore, a screening of intestinal polyposis by videocapsule endoscopy is recommended, as well as a screening of the most frequent sites of cancers for the patient's whole life. During any abdominal procedure, they should have an intraoperative endoscopy, this management allowing an increased time interval between 2 laparotomies.

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.

Introduction: The authors present a case review of a localized Peutz-Jeghers syndrome of the caecum, emulating a carcinoma., Methods: The patient who presented with insignificant family history with a diagnosed stenosing tumor of his appendix and histological findings of highly suspected adenocarcinoma, was indicated for surgical revision and right-sided hemicolectomy., Results: The patient underwent laparoscopically assissted right-sided hemicolectomy and his postoperative course was adequate. The final histological finding diagnosed solitary hamartoma of the Peutz-Jeghers polyp., Conclusion: Differential diagnostic reasoning in patients with negative family history and unclear case history with findings of polypous tumorous lesions of the GIT, should also consider the Peutz-Jeghers syndrome. The syndrome is related to a high risk of malignancies in the elderly.

A 41-year-old male patient with aggravated epigastralgia and nausea was admitted to Central Aizu General Hospital in February 1997. His past history showed a colonic polyp and anemia in the fourth decade. The patient looked healthy, but showed abdominal distension and tenderness, and pigmented lips. A plain abdominal X-ray revealed a dilation of the small intestine with niveau. Computed tomography disclosed multiple target signs. An emergency laparotomy clarified four intussusceptions of the small intestine with numerous polyps. Three were successfully reduced, while one jejunal intussusception was resected. Due to a fear of recurrence, a total of over 290 polyps were removed. His illness was diagnosed to be Peutz-Jeghers syndrome with a histology of hamartomatous polyps. He thereafter did well for 6 years, when he underwent an ileal resection for another intussusception caused by a newly grown lipoma. He was able to retain his job, but anemia and hypoproteinemia due to the proliferation of polyps necessitated treatments at the outpatient clinic. In May 2005, he underwent a third emergency laparotomy for an intussusception, followed by a resection of the ileum and 54 polyps. Since then he has been able to lead a normal life.

Inherited forms of gastrointestinal cancer have been a major focus of study and advancement over the past decade. Familial adenomatous polyposis and hereditary nonpolyposis colon cancer are the two most common heritable colon cancer syndromes. Inherited polyposis syndromes are characterized by the dominant type of polyp (whether adenomatous or hamartomatous) present and by the polyp's location within the gastrointestinal tract. The hamartomatous polyposis syndromes are characterized by an overgrowth of cells native to the area in which they normally occur. They represent a small but appreciable number of the gastrointestinal inherited cancer predisposition syndromes; it is now known that many of these syndromes carry a substantial risk for developing colon cancer as well as other gastrointestinal and pancreatic cancers. Patients afflicted with these syndromes are also at significant risk for extraintestinal malignancies. Seven inherited hamartomatous polyposis syndromes have been described: familial juvenile polyposis syndrome, Cowden's syndrome, Bannayan-Ruvalcaba-Riley syndrome, Peutz-Jeghers syndrome, basal cell nevus syndrome, neurofibromatosis 1, and multiple endocrine neoplasia syndrome 2B. Hereditary mixed polyposis syndrome is a variant of juvenile polyposis characterized by both hamartomatous and adenomatous polyps. The hamartomatous syndromes occur at approximately 1/10th the frequency of the adenomatous syndromes and account for <1% of colorectal cancer in Northern America. While the diagnosis of these inherited syndromes is primarily clinical, genetic testing is now available for all six syndromes. However, there are a significant number of spontaneous mutations seen in each of the syndromes. The management of these patients necessitates a coordinated multidisciplinary approach. The purpose of this review is to characterize the clinical and pathological features of these syndromes and to review the targets of cancer surveillance. The molecular alterations responsible for the inherited hamartomatous polyposis syndromes will also be discussed.

The paper presents the results of studies of the small bowel in 9 patients with the Peutz-Jeghers syndrome. The indications for the study were the clinical picture of gastrointestinal bleeding and the symptoms of ileus. The author's intubation enterographic procedure using the better composition of barium suspension and an infusion system for administering contract substances into the small bowel, an improved fractional contrasting procedure, and a procedure employing the agent Entero-view was applied for contrasting the small bowel. All the procedures revealed an obvious picture of polyposis of the small bowel. The minimum size of detected tumors was 0.3-0.4 cm in diameter. Emphasis is laid on the quantitative image of neoplasms with Entero-view and the therapeutic effect of intubation enterography in evolving small-small intestinal intussusception.

Objective: To analyze the etiology and diagnostic methods of Peutz-Jeghers syndrome (PJS) and thus establish a treatment strategy., Methods: Clinical data from six patients with PJS were evaluated from the aspect of familial history, carcinogenesis and recurrence of polyps., Results: The fathers of four and the mother of one of the six patients had PJS. The grandfather of three of the six patients had PJS. There was a history of cancer in three of the five families. Case 4 underwent two laparotomies for intussusceptions caused by recurrent polyps of the small intestine. Case 5 also had recurrent small intestinal polyps and required a laparotomy after 1 year of initial treatment. Polyps in cases 1 and 4 showed adenomatous changes and those in case 2 were associated with gastric cancer., Conclusions: Patients with PJS have a strong family history of cancer and a high incidence of recurrence of small intestinal polyps. Malignant changes of polyps may follow the hamartoma-adenoma-carcinoma sequence. Careful follow-up is mandatory for gastrointestinal tract symptoms, and other solid organs that are susceptible to malignant change.

Authors describe a case of 24 years old woman with recurrent lower GI bleeding and mechanical obstruction. Crohn's disease was diagnosed at the beginning. It was impossible to treat the patient's profound anemia with blood transfusions due to her religion believes. The diagnosis of Peutz-Jeghers syndrome was made postoperatively. During operation mechanical obstruction (invagination of terminal ileum into ascending colon) was released. The invagination was caused by 3 cm large polyp localized in terminal ileum. Subsequently, 8 polyps (varying in size between 0.5 and 3 cm) in the small intestine were localized using intraoperative upper GI endoscopy and enteroscopy and finally surgically removed. Typical hamartomas were found on histopathological examination of removed polyps. Authors present modern attitude to Peutz-Jeghers syndrome--its diagnostics, treatment and follow-up.

The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.

In a 7-year-old boy, a small-bowel polyp was found intraoperatively as a lead point of an intussusception. Histologically, a hamartoma was found and the clinical work-up revealed Peutz-Jeghers syndrome (PJS). Additionally, all four asymptomatic siblings showed intestinal polyposis. All children in a family with PJS should be properly investigated. In case of an intussusception with a polyp in a critical location, a surgical procedure should follow.

A case of Peutz-Jeghers syndrome (PJS) in an African girl is presented to document the clinical presentation, management and follow up of this condition. The patient who presented with black buccal mucosal hyperpigmentation and clinical features of jejuno-jejunal intussusception was successfully managed by operative reduction of the intussusception and polypectomy. She is being followed up for evidence of malignant transformation in associated intestinal polyps and development of extra-intestinal malignancies at other sites. The management of PJS in light of recent trends is discussed, especially with reference to suggested protocols for screening and surveillance of sites at supposed risk of tumour development.

The polyposis syndromes are rare familial and noninherited syndromes associated with intestinal as well as extraintestinal malignancies in many cases. Their recognition and classification are critical in determining the appropriate management strategies.

Juvenile polyps are the most common tumors of the gastrointestinal tract in children and are the principal cause of hematochezia. A total of 103 children and adolescents with intestinal polyps have been treated in Veterans General Hospital-Taipei from March 1961 to March 1994. The diagnosis included 87 cases (84.5%) of juvenile polyps, 2 cases of isolated adenomatous polyp and 14 cases of inherited polyposis syndrome. Juvenile polyps most often occur in children between 2 to 10 years old, with a male-to-female ratio of 1.4:1. Rectal bleeding was the main symptom (97.7%). Of the 87 patients, 82.8% had isolated polyps and 83.3% of those were located in rectosigmoid colon. After extensive use of colonoscopy, the reported incidence of multiple polyps substantially increased, and more polyps were found proximal to the rectosigmoid colon. Most juvenile polyps were removed by colonoscopic polypectomy. The recurrent rate was 10.2%. One of the two cases of juvenile polyposis coli suffered from intussusception demanding partial colectomy. Recurrent polyps were found in the remaining colon and were removed by colonoscopic polypectomy. Seven patients of Peutz-Jeghers syndrome came from five families. At initial diagnosis, one case had no polyps and two presented with intussusception. A 19-year-old girl was found to have bilateral ovarian cysts. One of the three familial adenomatous polyposis had adenocarcinoma at initial evaluation. Two cases of Gardner's syndrome received sulindac treatment, and no evidence of malignancy was found after three years of follow-up.

In a general review of the different varieties of the intestinal polyposes, emphasis is laid upon the main three types of the so-called "genetic polyposes" (juvenile polyposis, Peutz-Jeghers syndrome, and adenomatous polyposis) because of their peculiar interest concerning the pathological diagnosis, prognosis and genetic background. A correct histological diagnosis is of the utmost importance before an appropriated treatment can be initiated.

Recto-colonic polyposis is typical of pre-malignant lesions. Recognition and the application of appropriate treatment offer true prophylaxis against recto-colonic carcinoma in sufferers. Careful study should be made of other family members, the only way in which latent forms may be discovered before the stage of malignant change.

The intestinal polyposis syndromes represent a challenging diagnostic problem for the radiologist. These syndromes include: familial multiple polyposis, Gardner's, Peutz-Jeghers, Turcot's, Cronkhite-Canada and juvenile polyposis. The polyposis syndromes can usually be differentiated from one another on the basis of the clinical history, examination of the mucocutaneous tissues and roentgen findings. Numerous other conditions, however, may mimmic a polyposis syndrome, and must be considered in the differential diagnosis.

Between 1959 and 1974 we observed 18 patients with familial intestinal polyposis. 4 patients were from one family. Two brothers refused the operation and died 7 respectively 8 years after diagnosis had been made. The typical symptoms, the diagnostic procedure and the therapy are demonstrated. We prefer the proctocolectomy (eventually with the "Kock-Ileostoma"), because we observed a lot of recidivs after ileorectostomy. The prognosis of the familial intestinal polyposis is good, if the operation is performed early (also in cases of carcinomatosis). Only those patients died, who rejected the operation or were operated too late.

378 duodenal polyps were identified by endoscopic biopsy since 1973 in the course of more than 25,000 oesophago-gastro-duodenoscopies, corresponding to an incidence rate of 1.5%. Heterotopias of the gastric mucosa and so-called inflammatory polyps were most frequent (35.7% and 35.2%, respectively), followed by hyperplasia of Brunner's glands (6.9%), lipid islets (2.9%) and lymphatic hyperplasia (1.8%). Histologically there was no correlate to the endoscopic findings. Hence, non-neoplastic polyps account for about 90% of duodenal polyps; they are harmless and generally produce no (or only minor) signs or symptoms. Clinically relevant polyps besides the primary and secondary malignant processes are the adenomas of the colon type (6.9%) and Peutz-Jeghers polyps (1.3%). Since these two may occur in gastrointestinal polyposis, "top-and-tail endoscopy" must be performed. The rate of complications of 15% in endoscopic loopectomy in the duodenum is clearly higher than that in the stomach and colon.