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

Adolescent ; Fatal Outcome ; Female ; Humans ; Intussusception ; diagnosis ; etiology ; surgery ; Peutz-Jeghers Syndrome ; complications ; pathology ; surgery ; 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

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 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

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

Adenocarcinoma ; complications ; metabolism ; pathology ; Adult ; Carcinoembryonic Antigen ; metabolism ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Ki-67 Antigen ; metabolism ; Ovarian Neoplasms ; complications ; metabolism ; pathology ; Peutz-Jeghers Syndrome ; complications ; metabolism ; pathology ; Proliferating Cell Nuclear Antigen ; metabolism ; Sex Cord-Gonadal Stromal Tumors ; complications ; metabolism ; pathology ; Uterine Cervical Neoplasms ; complications ; metabolism ; pathology