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Introduction: Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine, but can also occur in the stomach and large bowel. Gastric polyps usually coexist with hamartomatous polyps in other locations of the gastro-intestinal tract. We present the second case reported in literature of diffuse gastric polyposis without affecting the rest of the gastrointestinal tract., Case Report: A 41-years-old woman complained of repeated, self-limited episodes of hematemesis. She presented with anaemia. An upper gastrointestinal endoscopy revealed multiple polyps in all the gastric surface, whose biopsy diagnosed of hamartomatous polyps. No other polyps were detecting the gastrointestinal tract. The patient underwent a total gastrectomy with Roux-en-Y reconstruction. Pathology revealed a gastric diffuse hamartomatous polyposis. A mis-sense mutation encoding the serine/threonine kinase STK11 gene was been identified, compatible with Peutz Jeghers polyposis., (Copyright© Acta Chirurgica Belgica.)

A hereditary breast cancer syndrome can present in a variety of ways ranging from an index case of early-onset breast cancer to an incidental finding during an endoscopy or a dermatological examination. A comprehensive review of the patient’s personal and family history is essential to accurately assess the risk for a hereditary cancer syndrome. Clinicians should be aware of the wide variety of hereditary breast cancer syndromes beyond BRCA1 and BRCA2-associated HBOC. Failure to identify a rare hereditary breast cancer syndrome can lead to additional cancer diagnoses in the patient or relatives that might have been prevented with appropriately aggressive management and screening. Effective identification and management of patients with a hereditary breast cancer syndrome requires a team approach. The use of cancer gene panels, although they can be beneficial in many cases, may also reveal incidental information, unexpected diagnoses, and inconclusive findings. Patients should be offered comprehensive counseling about the potential impact of this type of genetic testing before deciding to pursue a gene panel test. This counseling should include information about the numerous genetic syndromes analyzed. When performed in the context of thorough pretest and posttest counseling, genetic testing is a powerful tool that can aid the patient, his or her family members, and their physicians in making appropriate medical management decisions.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease due to mutations in the tumor suppressor gene STK11. PJS is characterized by periorificial hyperpigmented macules (lentiginosis) and hamartomatous polyposis. Polyps can be located anywhere in the gastrointestinal tract, but are preferably observed in the small bowel (70-90%), the colon (50%) and the stomach (25%). They tend to be cancerous in a particular sequence hamartoma-dysplasia-cancer. The diagnosis is often made in the first or second decade following the appearance of lentigines or upon the occurrence of complications due to polyps (obstruction, intussusception, occult bleeding responsible for anemia). Furthermore PJS is associated with a significant increase in cancer risk (relative risk of 89% over the life according to the most recent series). Digestive cancers are the more frequent with cumulative incidences of 55% for gastro-intestinal cancer (39% for colorectal cancer, 13% for small bowel cancer and between 11 and 36% for pancreatic cancer, respectively). There is also an increased risk of non digestive cancers. In particular the risk of breast cancer is similar to that of patients carrying deleterious BRCA1 or BRCA2 mutations (cumulative incidence of 45%). Gynecological and gonadal tumors are frequent as well and can be more (adenoma malignum) or less aggressive (ovarian sex cord tumors with annular tubules and testicular tumors with calcified Sertoli cells). Finally the frequency of lung cancer is moderately increased. Recommendations for screening and management based on retrospective series in the literature have led to various strategies. The aim of this paper is to summarize the clinical and molecular diagnostic criteria of PJS as well as recommendations on screening strategies, management and monitoring.

Background: Polyposis syndromes in children are distinct entities clinically and pathologically. These syndromes have multiple genetic characteristics, with development of polyps at various sites of the gastrointestinal (GI) tract, and are associated with an increased risk of colon cancer. They are relatively rare, and have mostly been characterized in the adult population, whereas little epidemiologic data have been reported in children., Aims: The aim of this study was to summarize the pediatric experience collected over a period of 11 years on polyposis syndromes in three major Israeli tertiary centers., Patients and Methods: Medical records of children below 18 years old and their families, diagnosed with polyposis syndromes between 1999 and 2010, were reviewed. The data included disease presentation, genetic profile, surveillance, and treatment., Results: Fifty patients with polyposis syndromes were identified. The most frequent syndrome was familial adenomatous polyposis (FAP) in 33 children (66%), of whom 25 children (75.7%) had a known mutation. The mean age at presentation was 10.6±3.9 years (range 4-17 years). Most children were examined because of a family history of a polyposis syndrome (42 children, 84%). Among symptomatic children (32 children), the most frequent complaint was rectal bleeding (42%), followed by abdominal pain (22%), intussusception (10%), and diarrhea (4%). The youngest symptomatic patient was 4 years old at presentation, with rectal bleeding.All patients underwent multiple colonoscopies and upper GI endoscopies according to specific guidelines. Thirteen children underwent colonic surgery (39%); nine children had FAP. Adenocarcinoma of the colon was diagnosed in a 12.5-year-old child., Conclusion: In this cohort study, FAP was the most common type of polyposis syndrome diagnosed in this pediatric population. Colon cancer was present at the onset of symptoms in a 12.5-year-old patient with FAP. We therefore recommend strict adherence to the hereditary GI cancer guidelines to prevent morbidity and mortality in FAP and other inherited polyposis syndromes.

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.

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.

Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder resulting from mutations in serine/threonine kinase 11 (STK11) and characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous pigmentation, and an increased risk for specific cancers. Little is known about the genetic implications of specific STK11 mutations with regard to their role in dysplastic and malignant transformation of GI polyps. Peripheral blood genomic DNA samples from 116 Chinese PJS patients from 52 unrelated families were investigated for STK11 mutations. Genotype-phenotype correlations were investigated. The mutation detection rate was 67.3% (51.9% point mutations, 15.4% large deletions). Fourteen out of the 25 point mutations identified were novel. Nearly one-third of all mutations, 8/27 (29.6%), were in exon 7, the shortest out of the nine exons. Strikingly, mutations affecting protein kinase domain XI, encoded in part by exon 7, correlated with a 90% (9/10) incidence of GI polyp dysplasia. In contrast, only two out of 17 (11.8%) nondomain XI mutations were linked to polyp dysplasia (P = 0.0001). The extent of the association between dysplasia and the development of GI-related cancers is currently unknown but our results highlight a novel STK11 genotype-phenotype association as the basis for future genetic counseling and basic research studies., (© 2014 WILEY PERIODICALS, INC.)

Objective: To investigate STK11 gene mutation in a pedigree with Peutz-Jeghers syndrome (PJS)., Methods: A pedigree of PJS was investigated. DNA was extracted from peripheral blood samples from affected and unaffected members of the pedigree and 100 unrelated healthy controls. PCR was performed to amplify all of the 9 coding exons of STK11 gene. PCR products were directly sequenced to detect mutation., Results: A missense mutation p.F354L (c.1062C>G) in exon 8 of the STK11 gene has been identified in all patients with PJS, but was not found in normal individuals from the pedigree and 100 unrelated controls., Conclusion: A missense mutation p.F354L of STK11 gene probably underlies the disease in this pedigree.

Peutz-Jeghers syndrome is an autosomal dominant inherited disease, belonging to the hamartomatous polyposis syndromes. It is characterized by multiple hamartomatous polyps of the gastrointestinal tract associated with oral and anal mucocutaneous pigmentations. We report the case of an adult patient diagnosed with an atypical form of Peutz-Jeghers syndrome, thereby emphasizing the different possible syndrome phenotypes and the difficulty of their diagnosis.

Patients with Peutz-Jeghers syndrome (PJS) have a risk of complicating malignant tumors, including cancer of the uterine cervix. Mutations in the STK11 gene have been identified as being responsible for PJS. However, the genotype-phenotype correlation in PJS is poorly understood, especially with respect to malignant tumors. Here, we report a detailed analysis of a case of a cervical tumor in a PJS patient showing a large genomic deletion in exon 1 of STK11 without human papillomavirus infection. Histological examination revealed a complex histology consisting of three components: lobular endocervical gland hyperplasia (LEGH), minimal deviation adenocarcinoma (MDA) and mucinous adenocarcinoma. Immunohistochemistry for STK11 was positive in the LEGH and MDA components, while that of the mucinous adenocarcinoma stained very faintly. These findings support a close relationship among LEGH, MDA and mucinous adenocarcinoma and imply that inactivation of STK11 may occur during progression from MDA to mucinous adenocarcinoma.

It was done 192 double-ballon enteroscopies in 141 patients at the period from March 2009 to March 2012. Epithelial benign tumors were detected in 10 (7.1%) patients with congenital polypoid syndromes. Endoscopic excision of polyps was done in 6 patients including 1 case with laparoscopic-assisted technique. Urgent open surgeries were performed before this in 4 patients with Peutz-Jeghers' syndrome and invaginated small bowel obstruction. The authors consider that double-ballon enteroscopy is highly informative diagnostic and treatment method in case of small bowel diseases. It allows to diagnose and to treat epithelial tumors on the early stage. Also it could help to avoid complications development and disability of patients.

The Peutz-Jeghers syndrome is inherited condition, characterized by hamartomatous gastrointestinal polyposis and with mucocutaneous pigmentation. We have experienced a case with typical clinical features, diagnosed before complication's development. In order to prevent cancer setting it is recommended to perform aggressive screening and high-technological procedures.

Objective: To report a case of rectal cancer in a patient with Peutz-Jeghers syndrome (PJS)., Clinical Presentation and Intervention: A 20-year-old woman with intermittent bloody stool of 4 months was admitted for examination. Gastroendoscopy revealed multiple polyps involving the stomach, small intestine, colon and a rectal adenocarcinoma. A diagnosis of PJS was made based on intestinal polyps with characteristic pathology and melanotic macules on the lips. After surgery and chemotherapy upon follow-up at 8 months, the patient did not have any signs of recurrence., Conclusion: This case showed that rectal carcinoma should be considered for young patients with PJS., (© 2013 S. Karger AG, Basel.)

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Peutz-Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. Crohn's disease is a chronic inflammatory bowel disease that typically manifests as regional enteritis with its incidence ranging from 3.1 to 14.6 cases per 100,000 person-years in North America. Herein, we report a case of a 30-year-old male patient who had both Peutz-Jeghers syndrome and Crohn's disease. We believe that this is the first case in Korea and the second report in the English literatures on Peutz-Jeghers syndrome coincidentally accompanied by Crohn's disease.

An overweight woman, aged 58 years, presented for follow up of hypertension, diabetes and dyslipidaemia. She was noted to have hyperpigmented brown macules on the inner surface of the lower lip and buccal mucosa (Figure 1). She stated that she had first noticed these lesions when aged in her 40s. Her mother died at age 58 years from gastric cancer with extensive metastases, and her brother died at age 45 years from colon cancer with spread to the liver and lungs.

The article provides an overview of hereditary polyposis syndromes of the digestive tract and genetic mechanisms in greater detail. A brief summary of the basic symptoms of the condition, including extra gastrointestinal signs, is given. Significant diagnostic procedures are listed. The therapy for these disease conditions is either operative or endoscopic.

Introduction: Surgical treatment is still necessary for intussusception management in a subgroup of patients, despite advances in enema reduction techniques. Early identification of these patients should improve outcomes., Methods: The medical records of patients treated for intussusception at our institution from 2006 to 2011 were reviewed. Univariate and multivariate analyses, including stepwise logistic regression, were performed., Results: Overall, 379 patients were treated for intussusception, and 101 (26%) patients required operative management, with 34 undergoing intestinal resection. The post-operative complication rate was 8%. On multivariate analysis, failure of initial reduction (OR 9.9,p=0.001 95% CI, 4.6-21.2), a lead point (OR 18.5,p=0.001 95% CI, 6.6-51.8) or free/interloop fluid (OR 3.3,p=0.001 95% CI, 1.6-6.7) or bowel wall thickening on ultrasound (OR 3.3,p=0.001 95% CI, 1.1-10.1), age <1 year at reduction (OR 2.7,p=0.004, 95% CI, 1.4-5.9), and abdominal symptoms>2 days (OR 2.9,p=0.003, 95% CI, 1.4-5.9) were significantly associated with a requirement for surgery. Similarly, a lead point (OR 14.5, p=0.005 95% CI, 2.3-90.9) or free/interloop fluid on ultrasound (OR 19.8, p=0.001 95% CI, 3.4-117) and fever (OR 7.2, p=0.023 95% CI, 1.1-46) were significantly associated with the need for intestinal resection., Conclusion: Abdominal symptoms>2 days, age<1 year, multiple ultrasound findings, and failure of initial enema reduction are significant predictors of operative treatment for intussusception. Patients with these findings should be considered for early surgical consultation or transfer to a hospital with pediatric surgical capabilities., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Epithelial misplacement can be present in small bowel polyps of patients with Peutz-Jeghers syndrome and can mimic invasive malignancy. For recognizing epithelial misplacement, which can also have dysplastic changes, it is helpful to demonstrate the associated lamina propria and the lack of desmoplastic response. Intramural mucinous cysts are frequently seen in the setting of epithelial misplacement.

Background and Aim: Hamartomatous polyposis syndromes (HPS) are a group of rare inherited autosomal dominant disorders. Small bowel polyposis is one of the manifestations of HPS. Double-balloon enteroscopy (DBE) with polypectomy may obviate repeated small bowel surgeries for polyp intussusception, obstruction, or bleeding. The efficacy and safety of DBE-assisted polypectomy in HPS patients with clinically significant small bowel polyposis were evaluated., Methods: All HPS patients who underwent DBE from January 2007 to April 2011 were identified using a prospectively maintained database. Data on patient demographics, pre-DBE radiological studies, polyp characteristics, procedural outcomes, and complications were abstracted., Results: Twenty-two patients underwent a total of 34 DBE procedures. Pre-DBE imaging included computed tomography enterography (n = 15), computed tomography enteroclysis (n = 5), small bowel follow-through (n = 1), and magnetic resonance enterography (n = 1). Any small bowel polyp ≥ 1 cm in size on radiological imaging was referred for DBE-assisted polypectomy. Antegrade and retrograde DBE were successful in reaching and resecting targeted polyps in 90% (18/20) and 71.4% (10/14) of procedures, respectively. The overall success rate for DBE-assisted polypectomy was 82.3% (95% confidence interval: 66.5-91.6%). The median size of resected polyps was 2 cm (range 1-5 cm) and all were hamartomas. Minor adverse events occurred in four (11.8%) procedures, including abdominal pain (n = 2), immediate post-polypectomy bleeding (n = 1), and self-limited hematochezia (n = 1)., Conclusions: DBE-assisted polypectomy was successful in over 80% of HPS patients with an acceptable margin of safety. To the knowledge of the authors, this is one of the largest single-center studies to report on the performance and safety of DBE-assisted polypectomy in HPS patients., (© 2012 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by mucocutaneous melanin pigmentation and gastrointestinal (GI) tract hamartomatous polyps and an increased risk of malignancy. In addition to polyposis, previous studies have reported increased risk of GI and extraGI malignancies in PJS patients, compared with that of the general population. The most common extraintestinal malignancies reported in previous studies are pancreatic, breast, ovarian and testicular cancers.We report the case of a 17-year-old boy who presented with generalized weakness, recurrent sharp abdominal pain and melena, had exploratory laparotomy and ileal resection for ileo-ileal intussusception. Pigmentation of the buccal mucosa was noted. An abdominal computed tomography scan (CT) revealed multiple polyps in small bowel loops. Gastroscopy revealed multiple dimunitive polyps in stomach and pedunculated polyp in duodenum. Colonoscopy revealed multiple colonic polyps. Pathological examination of the polyps confirmed hamartomas with smooth muscle arborization, compatible with Peutz-Jeghers polyps. CT scan guided left para-aortic lymph node biopsy revealed the characteristic features of extra-adrenal para-aortic paraganglioma. Although cases of various GI and extra GI malignancies in PJS patients has been reported, the present case appears to be the first in literature in which the PJS syndrome was associated with asymptomatic extraadrenal para-aortic paraganglioma. Patients with PJS should be treated by endoscopic or surgical resection and need whole-body screening.

The clinical signs of the Peutz-Jeghers syndrome are often overlooked in daily clinical practice. Early diagnosis is enormously relevant for the patient's outcome. Therefore, it is very important not only to think of the well-known manifestation of the gastrointestinal polyposis but also to consider the various other processes which can influence the prognosis remarkably as for instance ovarian and testicular tumors when a mutation of the serine-threonine kinase gene STK11 (chromosome 19p13.3) is present.

Acute mechanical intestinal obstruction is one of the most common modes of presentation in patients with Peutz-Jeghers syndrome (PJS). This report presents a case of PJS with malignant acute jejunal obstruction accompanied by synchronous foci of duodenal, jejunal, and ileal cancer originated from hamartomatous polyps. The follow-up endoscopic findings of the patient also revealed severe polyposis of the entire gastrointestinal tract, including the stomach and colon, in addition to the small intestine. Very few cases of multifocal synchronous small intestinal cancer in PJS patients have been reported in the previous literature.

We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor suppressor gene STK11. In addition to abnormal lip pigmentation on exam, further diagnostic workup with upper and lower gastrointestinal screening confirmed polyps consistent with Peutz-Jeghers syndrome. The purpose of this study is to present a full clinical description of a patient with a rare 19p13.3 chromosomal deletion and review the current literature of this newly emerging contiguous gene deletion syndrome. It also supports the screening for complications of Peutz-Jeghers syndrome in all patients with this deletion., (Copyright © 2012 Wiley Periodicals, Inc.)

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, autosomal dominant inherited disorder characterized by gastrointestinal hamartomatous polyps and pigmented mucocutaneous lesions. Intussusceptions and gastrointestinal tract bleeding are frequent complications of PJS caused by larger polyps, but acute pancreatitis and splenomegaly are very rare. Previously, surgical intervention was the only curative modality despite the associated complications. In recent years, double-balloon enteroscopy (DBE) has become the alternative method as the ideal treatment. We report the case of a 20-year-old woman diagnosed with PJS, as she suffered from 4-day nausea and vomiting with acute abdominal pain, and clinically manifested acute pancreatitis, splenomegaly and duodenojejunal intussusceptions secondary to a huge proximal jejunal polyp (10 cm × 2 cm). We removed the polyp via DBE and found that the acute pancreatitis, splenomegaly and duodenojejunal intussusceptions were simultaneously ameliorated 2 days after treatment. Currently, the patient has been symptom free for 3 months after polypectomy. Acute pancreatitis, splenomegaly and intussusceptions can synchronously occur in PJS patients, and polypectomy via DBE is the effective treatment alternative to surgical intervention for this disease, thereby obviating some complications associated with the latter., (© 2012 The Authors. Digestive Endoscopy © 2012 Japan Gastroenterological Endoscopy Society.)

Purpose of Review: The aim of this review is to describe the clinical, biochemical, radiographic, histological, and functional characteristics of large-cell calcifying Sertoli cell tumors of the testes (LCCSCTs). We describe the two main syndromes associated with these tumors: Peutz-Jeghers syndrome (PJS) caused mainly by mutations in the STK11 (aka LKB1) gene, which encodes a serine-threonine kinase, and Carney complex (CNC), which is most often caused by PRKAR1A mutations, the gene encoding regulatory subunit type 1 of protein kinase A., Recent Findings: Relatively few patients have been reported in the literature with LCCSCTs. In children they often present as prepubertal and/or peripubertal gynecomastia. Although these tumors are very rare, they occur with higher frequency among patients with PJS and CNC. Orchiectomy was often performed in the past; however, these tumors are overwhelmingly benign and, unless there are significant hormonal changes or pain and/or mass effects, there is no need for surgery. Tumors that lead to hyperestrogenemia may be treated efficiently with aromatase inhibitors; any change in appearance should prompt evaluation for malignancy., Summary: The detection of LCCSCTs may point to an underlying genetic multiple neoplasia syndrome such as PJS or CNC. Surgery is rarely indicated and aromatase inhibitors constitute an effective treatment for those cases that are associated with gynecomastia and/or advanced skeletal age.

Large cell calcifying sertoli cell tumor (LCCSCT) is an exceptionally rare neoplasm originating from sperm cord cells. The tumors have relatively low malignant potential and unlikely proceed to metastasis formation. The lesions may occur in an isolated form or in ca. 40% of cases may be associated with genetic abnormalities, by and large Peutz-Jeghers syndrome and Carney complex. At presentation, 20% of LCCSCT cases are bilateral and/or multifocal. Owning to characteristic skin lesions and particular hyperechoic ultrasound image of the tumor, preliminary diagnosis of the syndromic LCCSCT is possible in the preoperative period. Consequently, testicle organ-sparing procedure can be attempted, which is especially justified in bilateral lesions. Here, we report a case of a bilateral LCCSCT in a 20-year-old man with atypical Peutz-Jeghers syndrome due to amplification of the exon 1 of STK11 gene who was successfully treated with bilateral testicle-sparing tumorectomies.

Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant inherited disease. It is clinically characterized by the development of gastrointestinal hamartomas, mainly located in the small bowel. These hamartomas are prone to complications such as intussusceptions, abdominal complaints and anaemia. Furthermore, patients are at increased risk for developing small bowel cancer. Therefore, regular surveillance of the small bowel is indicated. However, the optimal strategy for surveillance has not been determined yet. This review gives an overview of the different techniques that have been described to examine the small bowel of PJS patients. First, a number of radiologic and endoscopic imaging modalities with diagnostic value are discussed. Secondly, recently developed advanced endoscopy techniques are described that can serve both as a diagnostic and therapeutic tool in the surveillance of the small bowel. Finally, a recommendation is given how to apply these individual techniques for small bowel surveillance in a step-up approach., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Introduction: Peutz-Jeghers syndrome (PJS) is a familial polyposis syndrome characterized by multiple hamartomatous polyps throughout the gastrointestinal tract. The aim of our study was to retrospectively determine the diagnostic value of MR enterography (MRE), performed in supine and prone position, in the detection of small bowel polyps in PJ patients., Materials and Methods: We retrospectively reviewed MRE examinations of 8 PJS patients who underwent MRE, pushed-double-ballon enteroscopy, laparoscopic endoscopy or surgery, within 3 months. Polietilenglicole was orally administered before the examination. True FISP and HASTE sequences were acquired in supine and prone position; 3D VIBE Gd-enhanced sequences in prone position only., Results: Concordance between MRE and endoscopy was 72.6% for polyps <15 mm, 93% for polyps >15 mm. In supine and prone position concordance with endoscopy for polyps <15 mm was 63% and 66.8%, respectively. In the detection of smaller polyps the difference between supine position only and supine plus prone position was statistically significant (P < 0.027)., Discussion: MRE performed by combining prone and supine position was accurate in the detection of PJS polyps, with 93% concordance with enteroscopy for larger and more risky polyps. MRE offers a promising and non invasive alternative to capsule endoscopy, suggesting the possibility of an effective yearly surveillance in PJ patients.

Background/aims: Peutz-Jeghers syndrome is a rare hereditary syndrome characterized by mucocutaneous pigmentation and hamartomatous polyps of the gastrointestinal tract, especially in the small intestine. Double-balloon endoscopy is a new endoscopic technique that enables both endoscopic visualization of the entire small bowel and therapeutic interventions in a single procedure. In this study, we evaluate the efficacy and safety of double-balloon endoscopy for both treatment and surveillance of patients with Peutz-Jeghers syndrome., Materials and Methods: We retrospectively evaluated 7 consecutive patients who were referred to Dokuz Eylül University, Gastroenterology Department, with the diagnosis of Peutz-Jeghers syndrome between 2007 and 2010., Results: Patients with Peutz-Jeghers syndrome (M/F: 5/2) underwent a total 31 double-balloon endoscopy procedures: 21 by the oral route, 9 by the anal route, and 1 intraoperatively. All of the patients had a history of laparotomy and small bowel resection due to complications such as invagination and ileus. In 7 patients, we found a total of 110 polyps ≥10 mm in diameter (10-100 mm) and polypectomies were performed in all of them. The only complication was a bleeding after polypectomy, which was controlled by sclerotherapy. In 1 patient, because of the intraabdominal adhesions due to past laparotomies, polypectomy was done by intraoperative endoscopy. In 2 of our patients, we made surveillance colonoscopies, found new polyps in the small intestine, and performed polypectomies., Conclusions: Double-balloon endoscopy is an effective and safe endoscopic technique, and represents a milestone for both treatment and surveillance of patients with Peutz-Jeghers syndrome. Polypectomies made in the small intestine might decrease the complication rate due to these polyps and the need for surgery.

Introduction: Peutz-Jeghers syndrome is a rare autosomal dominantly inherited disease characterized by mucocutaneous pigmentations and gastrointestinal polyps. The polyps are located predominantly in the small intestine and usually cause intussusceptions. Adult intussusception caused by Peutz-Jeghers syndrome occurs very rarely. The purpose of this study was to analyze the clinical characteristics, preoperative diagnosis, and surgical management of Peutz-Jeghers syndrome associated with acute intussusception in adult patients., Discussion: Consecutive patients with the postoperative diagnosis of acute intussusception caused by Peutz-Jeghers syndrome from 1995 to 2010 were reviewed retrospectively for this study. Data concerning clinical considerations, morphological examinations, and surgical procedure were analyzed. Different clinical manifestations were presented in patients with intussusception due to Peutz-Jeghers syndrome. Computed tomography associated or not with ultrasonography may be the most accurate examination for acute intussusceptions caused by Peutz-Jeghers syndrome. Surgical intervention is the first choice regimen in acute intussusceptions caused by Peutz-Jeghers syndrome. Prophylaxis and polypectomy of the entire small bowel is a worthy way in Peutz-Jeghers syndrome patients to reduce the frequency of laparotomies.