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Purpose: In this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11., Methods: Based on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from relevant departments at Danish hospitals, we identified patients and collected clinical and genetic information., Results: We identified 43 patients of which 14 were deceased. The prevalence was estimated to be ∼1 in 195,000 individuals. The median age at first symptom was 27.5 with invagination of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients., Conclusion: This is the first comprehensive study of patients with Peutz-Jeghers syndrome in the Danish population identified from nationwide registers and databases. We have demonstrated that the expressivity of Peutz-Jeghers syndrome varies greatly among the patients, even within the same families, underlining the great phenotypic spectrum. Patients with PJS should be offered surveillance from childhood in order to prevent morbidity and reduce mortality.

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.

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.

Purpose: Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS) are hereditary polyposis syndromes with a high risk for benign small-bowel polyps and cancer. The aim of this study was to assess the prevalence of small-bowel polyps beyond the duodenum in patients with FAP and PJS and to examine the clinical value and the optimal interval of capsule endoscopy (CE) for the surveillance of small-bowel polyps in patients with FAP., Methods: Between 2002 and 2009, standard gastroscopy, duodenoscopy, and CE were performed on 19 consecutive patients with hereditary polyposis syndromes (FAP n=15; PJS n=4). The number, size, and location of polyps detected by CE were assessed. Five FAP patients had repeated CEs in intervals of 2-7 years., Results: In 13 of the 15 (87%) FAP patients, small-bowel polyps were detected by CE ranging from estimated <5 mm to >10 mm in size. Thereof, in four patients, medium-sized (5-10 mm) or large-sized (>10 mm) polyps were seen-all of them located in the proximal jejunum. In three FAP patients with repeated CEs, the latest CE displayed medium- and large-sized polyps in the proximal jejunum, whereas previous CEs had detected only small-sized (<5 mm) polyps. In three of the four PJS patients, large-sized small-bowel polyps were visualized by CE which could then be removed by double-balloon enteroscopy (DBE) or surgical resection., Conclusion: CE is an effective and safe method for small-bowel surveillance in FAP and PJS.

A solitary duodenal hamartomatous polyp is rare and it is considered to be either a variant of Peutz-Jeghers syndrome (PJS) or a separate entity. Patients do not have cutaneous manifestations and have only one hamartomatous polyp. The presentation is nonspecific and it resembles common conditions, such as a peptic ulcer disease. Most are incidentally diagnosed during endoscopy for other indications. Malignant transformation has been reported. This report describes the case of a 46-year-old man who presented with chronic intermittent abdominal pain. The initial endoscopy showed an abnormal twisting of the duodenum with a dilated duodenum. He was later diagnosed to have a solitary duodenal hamartomatous polyp with malignant transformation, which was treated by surgery. A review of the literature on the pertinent cases of this type of lesion is also presented.

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.

Background and Aims: Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disease characterized by hamartomatous polyps of the alimentary tract, hyperpigmentation of the skin, and family history of PJS. Rarely, solitary Peutz-Jeghers polyps (PJP) arise in patients without other features of PJS., Patients and Methods: We reviewed eight patients since 1979 with solitary PJP, six men and two women., Results: The average age at diagnosis was higher (56+/-13 years) than that of PJS patients in the literature. Polyps were found in the sigmoid colon ( n=4), cecum ( n=1), stomach ( n=1), and duodenum ( n=2). The colonic polyps were diagnosed and removed endoscopically. Indications for colonoscopy included routine screening ( n=4) or rectal bleeding ( n=1). The duodenal and gastric polyps were diagnosed and removed during gastroduodenoscopic examinations, which were performed for nonspecific dyspepsia ( n=2) or gastrointestinal bleeding ( n=1). The median size was 20 mm (range 2 mm-25 mm). Patients were followed for a median of 11.5 years (range 3-22) without another PJP or cancer. Three patients died of causes unrelated to PJP. Five patients are alive and polyp free., Conclusion: Solitary PJP do not carry a risk of gastrointestinal cancer and are not an indication for specific high-risk screening.

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction, and bleeding. Recently an increased risk of malignancies has also been reported. This study was initiated to determine the clinical features of Peutz-Jeghers syndrome in Korean patients, with special attention to the development of malignancies. Thirty patients with Peutz-Jeghers syndrome were investigated; their median age was 23.5 years, and symptoms appeared at a median age of 12.5 years. Family history was positive in one-half of cases, and mucocutaneous pigmentation was observed in almost all patients (93%). The jejunoileum was the most frequent site of the polyps, and there were generally 10-100 polyps. Multiple laparotomies were performed in a substantial portion of the patients, due mainly to polyp-induced bowel obstruction, and the surgical interventions were begun at a relatively young age (average 21.4 years). Four cases of small-bowel cancer and one case of breast cancer were detected in probands, at a relatively young age (mean 36 years). Cancers of the small bowel, stomach, colon, breast and cervix were diagnosed in the first relatives of the probands. Close follow-up from an early age should thus be performed in patients with Peutz-Jeghers syndrome as they are at high risk of surgical emergency and development of malignancy.

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.