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. Furthermore, repeated operations may be needed in some patients, which may result in short bowel syndrome. Although early reports did not demonstrate a predisposition to cancer in patients with this syndrome, more recent studies have described an increased risk for both gastrointestinal and extra-gastrointestinal cancers. Women with the Peutz-Jeghers syndrome have the extremely high risk for breast and gynecologic cancer. Recently, Peutz-Jeghers syndrome susceptibility gene, encoding the serine threonine kinase STK11 (also called LKB1), was identified in families with Peutz-Jeghers syndrome. The identifications of germline mutations in families with Peutz-Jeghers syndrome could be a turning point in the management of Peutz-Jeghers syndrome.
Female ; Human ; Neoplasms/etiology ; Peutz-Jeghers Syndrome*/pathology ; Peutz-Jeghers Syndrome*/genetics ; Peutz-Jeghers Syndrome*/complications ; Phenotype ; Risk Factors

Adult ; Female ; Hamartoma ; complications ; pathology ; Humans ; Peutz-Jeghers Syndrome ; complications ; pathology ; Polyps ; complications ; pathology

Two unusual cases of small intestinal intussusception presenting as bowel obstruction are presented. They both had freckle-like pigmentation of the perioral area, palms and soles of the feet with intestinal polyps which acted as lead points in the intussusception. Peutz-Jeghers syndrome was diagnosed. This report highlights the high risk of cancer of the intestines and extra-intestinal sites associated with this interesting but rare condition.
Adolescent ; Adult ; Female ; Humans ; Ileal Diseases/*complications ; *Ileocecal Valve ; Intussusception/*etiology ; Male ; Peutz-Jeghers Syndrome/*complications

Adolescent ; Fatal Outcome ; Female ; Humans ; Intussusception ; diagnosis ; etiology ; surgery ; Peutz-Jeghers Syndrome ; complications ; pathology ; surgery ; Tomography, X-Ray Computed

The hamartomatous polyps in Peutz-Jeghers syndrome may have malignant potential. To differentiate between hamartomatous and adenomas polyps, vascular characterization can be assessed using noninvasive procedures, such as contrast-enhanced ultrasound (CEUS). The neo-angiogenic characteristics of colorectal adenomas and carcinomas are expressed as an anarchic vascular pattern observed on CEUS. Using CEUS in a patient with Peutz-Jeghers syndrome, we describe for the first time the vascularization of a hamartomatous colonic polyp that exhibits a hierarchy branching pattern.
Adult ; Colonic Polyps/etiology/*ultrasonography ; Contrast Media/diagnostic use ; Female ; Hamartoma/blood supply/etiology/*ultrasonography ; Humans ; Peutz-Jeghers Syndrome/complications/*ultrasonography ; Ultrasonography, Doppler, Color

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.
Adult ; Crohn Disease/complications/*diagnosis/pathology ; Endoscopy, Gastrointestinal ; Humans ; Intestinal Obstruction/etiology ; Intestinal Perforation/etiology ; Intestinal Polyps/pathology/surgery ; Male ; Peutz-Jeghers Syndrome/complications/*diagnosis/genetics ; Protein-Serine-Threonine Kinases/genetics

Peutz-Jeghers syndrome (PJS), which is characterized by multiple hamartomatous polyps of the gastrointestinal tract and mucocutaneous pigmentation, is a rare autosomal dominant disease. This syndrome is often represented as a surgical emergency with complications of the polyps such as intussusception, small bowel obstruction, bleeding, and volvulus. In particular, many studies have reported that patients with this syndrome have a high risk of gastrointestinal or extragastrointestinal malignancy including gastric, duodenal, jejunal, ileal, and colonic carcinoma as well as malignancies involving other organs such as the gallbladder, biliary tract, pancreas, tonsils, breast, and reproductive system. However, there are few reported cases of an association of this syndrome with extraintestinal malignancy. In addition to that, there is no reported case of this syndrome with malignant tumor or intraductal papillary mucinous tumor of pancreas in Korea. We experienced a case of PJS accompanying intraductal papillary mucinous carcinoma of the pancreas, therefore we report this case with literatures reviewed.
Adenocarcinoma, Mucinous/*diagnosis/pathology/secondary ; Carcinoma, Papillary/*diagnosis/pathology/secondary ; Humans ; Intussusception/surgery ; Jejunum/surgery ; Male ; Middle Aged ; Pancreatic Neoplasms/complications/*diagnosis/pathology ; Peutz-Jeghers Syndrome/complications/*diagnosis ; Tomography, X-Ray Computed

Peutz-Jeghers syndrome (PJS), which is characterized by multiple hamartomatous polyps of the gastrointestinal tract and mucocutaneous pigmentation, is a rare autosomal dominant disease. This syndrome is often represented as a surgical emergency with complications of the polyps such as intussusception, small bowel obstruction, bleeding, and volvulus. In particular, many studies have reported that patients with this syndrome have a high risk of gastrointestinal or extragastrointestinal malignancy including gastric, duodenal, jejunal, ileal, and colonic carcinoma as well as malignancies involving other organs such as the gallbladder, biliary tract, pancreas, tonsils, breast, and reproductive system. However, there are few reported cases of an association of this syndrome with extraintestinal malignancy. In addition to that, there is no reported case of this syndrome with malignant tumor or intraductal papillary mucinous tumor of pancreas in Korea. We experienced a case of PJS accompanying intraductal papillary mucinous carcinoma of the pancreas, therefore we report this case with literatures reviewed.
Adenocarcinoma, Mucinous/*diagnosis/pathology/secondary ; Carcinoma, Papillary/*diagnosis/pathology/secondary ; Humans ; Intussusception/surgery ; Jejunum/surgery ; Male ; Middle Aged ; Pancreatic Neoplasms/complications/*diagnosis/pathology ; Peutz-Jeghers Syndrome/complications/*diagnosis ; Tomography, X-Ray Computed

INTRODUCTIONPeutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed.

MATERIALS AND METHODSA search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry's pedigree records.

RESULTSSeven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed.

CONCLUSIONPatients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.

Adolescent ; Adult ; Child ; Cohort Studies ; Critical Pathways ; Disease Management ; Female ; Gastrointestinal Diseases ; complications ; epidemiology ; Humans ; Male ; Peutz-Jeghers Syndrome ; complications ; therapy ; Population Surveillance ; Prevalence ; Registries ; Singapore ; epidemiology ; Young Adult

We report here on the multiple genital tract neoplasms in a 41-yr-old Korean woman with Peutz-Jeghers Syndrome (PJS). The patient presented with lower abdominal pain. Her previous medical history was PJS and breast cancer. Pelvic ultrasound showed a multilocular cyst at the right adnexal region, diagnosed as bilateral ovarian mucinous borderline tumors. An ovarian sex cord tumor with annular tubules was incidentally diagnosed together with a minimal deviation adenocarcinoma of the uterine cervix and mucinous metaplasia of both the Fallopian tubal mucosa and the endometrium. Although the cases of multiple genital tract tumors with PJS has rarely been reported, the present case appears to be the first in Korea in which the PJS syndrome was complicated by multiple genital tract tumors and infiltrating carcinoma of the breast. The clinical significance of the multiple genital tract tumors and breast cancer associated with PJS is reviewed.
Uterine Cervical Neoplasms/complications/*pathology ; Sex Cord-Gonadal Stromal Tumors/complications/pathology ; Peutz-Jeghers Syndrome/complications/*pathology ; Ovarian Neoplasms/complications/*pathology ; Metaplasia ; Korea ; Humans ; Female ; Fallopian Tubes/pathology ; Endometrium/pathology ; Carcinoma, Ductal, Breast/complications/pathology ; Breast Neoplasms/complications/*pathology ; Adult ; Adenocarcinoma/complications/pathology