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Peutz-Jeghers syndrome is characterized by the development of growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines), and a greatly increased risk of developing certain types of cancer.
Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause medical problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.
People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.
The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 births.
Mutations in the STK11 gene cause Peutz-Jeghers syndrome.
The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in one copy of this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. Researchers suggest that an additional gene mutation, either in the second copy of the STK11 gene or in another gene, can occur in certain cells during a person's lifetime. This combination of genetic changes may trigger the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome.
Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.
Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of Peutz-Jeghers syndrome in their family. These cases appear to result from new mutations in the STK11 gene.
'''Peutz-Jeghers''' is an autosomal dominant genetic disease. The three main criteria for diagnosis are: * Family history (medicine) * Mucocutaneous boundary on the lips * Polyp (medicine) in the gastrointestinal tract. These are benign polyps with a low potential for malignancy. Having 2 of the 3 listed criteria indicates a positive diagnosis. Definitive diagnosis requires a histological sample of a polyp. In 1998, a gene was found to be associated with the mutation. On Chromosome 19 (human), the gene known as [http://us.expasy.org/cgi-bin/niceprot.pl?Q15831 STK11/LKB1] is a possible tumor suppressor gene. The risks associated with this syndrome include increased chance of developing cancer in multiple sites especially in the gastrointestinal tract. Other areas include the pancreas, liver, lungs, breast, ovaries, and testicles. The average age of first diagnosis is 23, but the lesions can be identified at birth by an astute pediatrician. Prior to puberty, the mucocutaneous lesions can be found on the palms and soles. Often the first presentation is as a bowel obstruction from an intussusception; an intussusception is a telescoping of one loop of bowel into another segment. Most of the data regarding this disorder are from selected family lines and thus the risks endured by those families regarding outcomes may not translate completely to the patient without a familial history. Screening for cancers include Esophagogastroduodenoscopy, enteroclysis, colonoscopy, endoscopic ultrasound, testicular ultrasound.
Peutz-Jeghers Syndrome - Offers information on this rare disorder characterized by hamartomas and high risk for cancer. For patients, family, friends, and medical personnel.
Familial Gastrointestinal Cancer Registry - A family study centre at Mount Sinai Hospital, Toronto, for rare inherited colorectal cancer syndromes, including familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC), Peutz-Jeghers syndrome, juvenile polyposis, and other polyposis syndromes.