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Peutz Jeghers syndrome


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
More Names
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Your Question

I have many dark colored spots on my lips, inside my cheek, and on my gum. These spots developed while I was in my thirties. Although I do not have gastrointestinal symptoms and my family history is negative, my dermatologist has suggested the possibility of Peutz-Jeghers syndrome (PJS). I am concerned about the high incidence of cancer in PJS patients and would like to know if definitive testing is available.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. T hese polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers.[1] Most cases of PJS can be attributed to mutations in the STK11 gene.[2]
Last updated: 3/4/2010

What are the signs and symptoms of Peutz-Jeghers syndrome (PJS)?

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.[2][3]

Children with Peutz-Jeghers syndrome often develop small, dark blue to dark brown spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus.[2][4] These spots may also occur on the hands and feet. They commonly 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.[2]

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.[2][3]

Last updated: 3/4/2010

What causes Peutz-Jeghers syndrome (PJS)?

Peutz-Jeghers syndrome (PJS) is caused by mutations in the STK11 gene. 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.[2]

Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.[2]

Last updated: 3/4/2010

Is Peutz-Jeghers syndrome (PJS) inherited?

Peutz-Jeghers syndrome (PJS) 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 PJS in their family. These cases appear to result from new mutations in the STK11 gene.[2]
Last updated: 3/4/2010

How is Peutz-Jeghers syndrome (PJS) diagnosed?

The diagnosis of Peutz-Jeghers syndrome is based on clinical findings. In individuals with a clinical diagnosis of PJS, molecular genetic testing of the STK11(LKB1) gene reveals disease-causing mutations in approximately 100% of individuals who have a positive family history and approximately 90% of individuals who have no family history of PJS. Such testing is available clinically.[4]
 
GeneTests lists labs conducting clinical testing for PJS. Click here to access this list. Please note: Because many of the labs listed through GeneTests do not accept direct patient contact, we strongly recomend that you work with a genetics professional or other health care provider.
Last updated: 3/4/2010

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References