Peutz-Jeghers Syndrome

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What is Peutz-Jeghers syndrome?

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.

How common is Peutz-Jeghers syndrome?

The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 births.

What genes are related to Peutz-Jeghers syndrome?

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.

How do people inherit Peutz-Jeghers syndrome?

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.

Source: National Institutes of Health

Studies from University of Amsterdam, Department of Pathology have provided new data on nasal polyp genetics

"Recently, a molecular-genetic association between nasal polyposis and PJS has been reported. To further explore the occurrence and pathogenesis of PJS-related nasal polyposis. 51 patients with PJS, 84 unaffected family members and 36 spouses from 18 families with PJS were questioned for the presence of nasal polyposis. 12 PJS-related nasal polyps, 1 carcinoma of the nasal cavity and 28 sporadic nasal polyps were analysed for loss of (wild type) STK11/LKB1, eosinophilia, squamous metaplasia, dysplasia and expression of cyclo-oxygenase 2 and p53. Nasal polyps occurred in 8 of 51 patients with PJS, and were not reported by non-affected family members (p <0.001). Germline STK11/LKB1 mutations were identified in all patients with PJS and nasal polyposis. Loss of heterozygosity was found in four of eight PJS-related nasal polyps, but not in sporadic nasal polyps (p=0.002). PJS-related nasal polyps showed less eosinophilia than sporadic nasal polyps (p <0.001). Expression of cyclo-oxygenase 2 was found in 11 of 12 PJS-related nasal polyps and 19 of 28 sporadic nasal polyps (p >0.05). Overexpression of p53 was not found. Nasal polyposis occurs in a significant number of Dutch patients with PJS, one of whom developed a carcinoma in the nasal cavity," wrote Leng W.W. de and colleagues, University of Amsterdam, Department of Pathology.

The researchers concluded: "The loss of heterozygosity, and the absence of eosinophilia suggest a distinct pathogenesis compared with sporadic nasal polyposis."

de and colleagues published their study in the Journal of Clinical Pathology (Nasal polyposis in Peutz-Jeghers syndrome: a distinct histopathological and molecular genetic entity. Journal of Clinical Pathology, 2007;60(4):392-6).

For additional information, contact W.W. de Leng, University of Amsterdam, Dept. of Pathology, Academic Medical Center, Amsterdam, Netherlands.

The publisher of the Journal of Clinical Pathology can be contacted at: B M J Publishing Group, British Med Association House, Tavistock Square, London WC1H 9JR, England.

Keywords: Netherlands, Amsterdam, Nasal Polyp Genetics, Clinical Pathology, Gastroenterology, Genetics, Nasal Polyps.

This article was prepared by Gastroenterology Week editors from staff and other reports. Copyright 2007, Gastroenterology Week via NewsRx.com.