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

OBJECTIVETo propose the clinical classification of Peutz-Jeghers syndrome (PJS).

METHODS AND RESULTSRetrospective analysis of 52 patients with PJS admitted in Nanfang Hospital from 1980 to 2003 was conducted. Twenty-four patients were found to have family history of PJS, who had a mean age of 19 years. In the PJS patients, the incidence of gastric polyps was 64.4%, colorectal polyps 76%, and small bowel polyps 95%. The number of polyps was above 50 in 19 of the 31 patients with gastric polyps, in 18 of the 38 patients with colorectal polyps, and in 8 of the 19 patients with small bowel polyps. The pathology of the majority of the polyps (63/108) was characterized by hamartomas, and the incidence of malignancy was 13.5% in the PJS patients.

CONCLUSIONSPJS can be classified according to family history and location, pathology, and number of the polyps. As most patients with over 50 polyps require surgical intervention, 50 polyps is recommended as the criteria for PJS classification. Endoscopic surgery may suffice for management of patients with fewer polyps (<50), while in patients with more polyps or small bowel polyps, open surgery combined with intraoperative endoscopic surgery is recommended.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Intestinal Polyps ; pathology ; Male ; Peutz-Jeghers Syndrome ; classification ; pathology ; surgery ; Retrospective Studies

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

Peutz-Jeghers syndrome (PJS) is a very rare genetic disorder. PJS carries a high risk of developing gastrointestinal (GI) cancer or non-GI cancer with advancing years. However, major symptoms of PJS in childhood are obstruction, intussusception, and bleeding from hamartomatous intestinal polyps which in majority of cases are not related to cancer. Generally, first GI symptom develops by 20 years in one half of children diagnosed with PJS. Children under two years of age who had PJS polyp-related intestinal symptoms are rare, and there have been no published report on intestinal carcinoma development, adenomatous change or dysplasia of polyps in Korean children with PJS. Recently, the authors have experienced a case PJS with adenomatous polyp change in a 15-month-old boy who had STK11 gene mutation. Therefore, early evaluation could be necessary and considered in children with PJS.
Adenoma/*diagnosis/pathology ; Base Sequence ; Colonoscopy ; Heterozygote ; Humans ; Infant ; Male ; Peutz-Jeghers Syndrome/*diagnosis/genetics/pathology ; Polymorphism, Single Nucleotide ; Polyps/pathology ; Protein-Serine-Threonine Kinases/chemistry/genetics

Adenomatous Polyps ; pathology ; Colonic Polyps ; pathology ; Colorectal Neoplasms ; pathology ; Diagnosis, Differential ; Hamartoma Syndrome, Multiple ; pathology ; Humans ; Intestinal Polyposis ; pathology ; Intestinal Polyps ; pathology ; Peutz-Jeghers Syndrome ; pathology ; Rectal Diseases ; pathology

A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed by characteristic histopathological appearances of Peutz-Jeghers polyps. PJS is a rare hereditary condition characterised by unique hamartomatous polyps, perioral mucocutaneous pigmentations, and increased susceptibility to gastrointestinal and extraintestinal neoplasms. Patients usually present with recurrent abdominal pain due to intussusception caused by polyps. Other modes of presentations include rectal bleeding and melaena. We describe the imaging findings of PJS and provide a brief review of bowel polyposis syndromes. The latter are relatively rare disorders characterised by multiple polyps in the large or small intestine, with associated risk of malignancies and other extraintestinal manifestations. Awareness of the manifestations and early diagnosis of these syndromes is crucial to prevent further complications.
Abdominal Pain ; Adult ; Barium ; chemistry ; Diagnostic Imaging ; methods ; Female ; Humans ; Intussusception ; diagnosis ; diagnostic imaging ; pathology ; Jejunum ; diagnostic imaging ; pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Peutz-Jeghers Syndrome ; diagnosis ; diagnostic imaging ; pathology ; Polyps ; Tomography, X-Ray Computed ; Young Adult

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

Gastrointestinal polyposis (GIP) is a rare disease characterized by formation of the numerous polyps in the gastrointestinal tract and presenting several extraintestinal manifestations. Most of the diseases are transmitted in an autosomal dominant pattern. In Korea, the epidemiological study as well as the pathological analysis of the GIP is not well established. We therefore analysed 38 items of GIP using surgically resected specimens. The materials in this study were collected from the 12 institutions and case reports in Korean literature between 1980 and 1991. The clinicopathologic findings were reevaluated by several members of the study group for gastrointestinal pathology. The results are as follows: (1) A total of 112 cases were included in this study: 83 cases were collected from 12 institutions and 29 cases were collected from Korean literature. The cases were classified as familial adenomatous polyposis (FAP), 59 cases; Gardner's syndrome, 3 cases; juvenile polyposis, 12 cases; Peutz-Jeghers syndrome, 35 cases; multiple colonic adenomas, 3 cases. (2) Among 59 cases of FAP, the range of age at operation was 14 to 61 years, and a family history was positive in 25 cases. The number of polyps in colorectum was 100~8,000. Of the 37 cases in which the examination of polyp density was available, 16 cases (43%) showed the highest density in the rectum and the sigmoid colon. The carcinomatous change within polyp(s) was present in 18 cases (31%), and associated advanced single or multiple colonic carcinomas existed in 37 cases (63%). Twenty-six (45%) tumors out of total 58 carcinomas were in the rectum. Twenty-five patients were evaluated for the upper gastrointestinal lesions, and 11 patients (44%) had pathologic lesions; multiple fundic gland polyps in 3 cases (12%), gastric and duodenal adenomas in 2 cases (8%), gastric adenomas in 2 cases (8%), duodenal adenomas in 2 cases (8%), gastric carcinoma and adenoma in 1 case (4%), gastric carcinoma in 1 case (4%). (3) Among 3 cases of Gardner's syndrome, the range of age at operation was 25 to 31 years, a family history was identified in 2 cases. One case was associated with an advanced colonic carcinoma and carcinomatous change within polyp. Extra gastrointestinal lesions were sebaceous cyst, epidermal cyst, osteoma and desmoid tumor. (4) Among 12 juvenile polyposis, the range of age at operation was 8 to 51 years and 5 patients had a family history. The carcinomatous change within polyp was found in 2 cases (17%) and associated advanced colonic carcinoma was in 4 cases (33%). The associated different type of polyps was tubular adenomas in 9 cases (75%), hyperplastic polyps in 4 cases (33%) and villous adenomas in 2 cases (17%). (5) Among 35 Peutz-Jeghers syndrome, the range of age at first operation was 6 to 42 years, family history was positive in 11 cases. The carcinomatous change within polyp was found in 1 case (3%), and associated advanced colonic carcinoma in 1 case (3%). The epithelial misplacement was observed in 4 cases (11%), and tubular or villous adenomatous feature in 4 cases (11%). In summary, the most frequent GIP for the surgical resection in Korea is FAP and the FAP is associated with high incidence of coexisting advanced and intramucosal carcinomas. Hamartomatous polyposis syndromes, such as juvenile polyposis and Peutz-Jeghers syndrome are another frequent disease for the surgical resection and are also associated with an increased risk of cancer.
Adenoma ; Adenoma, Villous ; Adenomatous Polyposis Coli ; Colon ; Colon, Sigmoid ; Epidermal Cyst ; Fibromatosis, Aggressive ; Gardner Syndrome ; Gastrointestinal Tract ; Humans ; Incidence ; Korea ; Osteoma ; Pathology ; Peutz-Jeghers Syndrome ; Polyps ; Rare Diseases ; Rectum